FkSyklhfe;kvarjkZ"Vªh;QsMjs'ku 1986^^MCY;w- ,p- vks- ls lac) & 1996**

FkSyklhfe;k varjkZ"Vªh; QsMjs'ku& izdk'ku la[;k 13

MkW- ,aMªksyk ,YQFksjks ¼ch-,llh-] ,e-,llh-] ih,p-Mh] ,ech,½

vkSj MkW- ekbdy ,axkSfLVfuvksfVl ¼,eMh] Mh lh ,p½ ds }kjk

gheksXyksfcu&laca/kh chekfj;k¡gheksXyksfcuksiSFkht+

cqdysV rhu (3)fldy

lsy fodkj ds ckjs esa

FkSyklhfe;k ds ckjs esa FkSyklhfe;k ds ckjs esa

'kSf e{ zdZkd ; kd

ISBN: 978-9963-623-47-1

© 2007 Team up Creations Ltd.14 Othonos str, 1016 Nicosia - Cyprus

loZkf/dkj lqjf{krA

bl izdk'ku ds fdlh Hkh va'k dk izfrfyfidj.k] ,sls ;a=k esa HkMkj.k] ftlls bls iqu% izkIr fd;k tk ldrk gks

;k LFkkukarj.k] fdlh Hkh :i esa ;k fdlh Hkh fof/ ls] bysDVªkWfud] ;kaf=kd] iQksVks&izfrfyfi]

fjdk£Max ;k fdlh vkSj <ax ls] izdk'kd dh iwoZ vuqefr ds fcuk ugha fd;k tk ldrkA

fnYyh] Hkkjr esa fizfUVMA

This booklet titled "About Sickle Cell Disorders" authored by Dr. Androulla Eleftheriou and Dr. Michael Angastiniotis is a publication of Thalassaemia International Federation. To create public awareness and increase understanding about sickle cell disorders, this book has been translated in Hindi by Dr. V. K. Khanna who is a senior consultant pediatrician and incharge of Preeti Tuli Thalassemia Unit at Sir Ganga Ram Hospital, New Delhi, India. The printing of this book has been facilitated by Thalassemics India, A-9, Nizamuddin West, New Delhi, India.

MkW- ,aMªksyk ,YiQFksjks vkSj MkW- ekbdy ,axkSfLVfuvksfVl ds }kjk fyf[kr ;g

cqDysV ¶fldy lsy fodkj ds ckjs esa FkSyklhfe;k varjkZ"Vªh; iQsMjs'ku dk

izdk'ku gSA tkx:Drk rFkk fldy lsy fodkj ds ckjs esa tkudkjh c<+kus ds fy,

;g cqDysV MkW- oh- ds- [kUuk] izHkkjh] izhfr rqyh FkSyklhfe;k ;qfuV] lj xaxk jke

vLirky ds }kjk fgUnh esa vuqokfnr dh xbZ gSA bl cqDysV dh fizfUVx

FkSyklsfeDl bfUM;k] ,&9] fut+keqíhu if'pe] ubZ fnYyh }kjk lqxe dh xbZ gSA

01fldy lsy

ifjp; (chekjh dh tkudkjh)

jDr (laiw.kZ jDr) gheksXyksfcu

vuqoaf'kdrk (Inheritance) (tUe ds lkFk gh vkus okyh chekjh) fldy lsy ds laokgdks (carriers) ds ckjs esa

dksbZ O;fDr laokgd gS ;k ugha] bldk irk dSls pysxk\

yscksjsVjh tkap

fldy lsy chekjh dh igpku (diagnosis) dSls dh tkrh gS\ fldy lsy chekjh dk irk yxkus ds fy, vkerkSj ij bLrseky fd, tkus okys rjhds

D;k fdlh vtUes cPps dh xHkkZ'k; esa tk¡p dh tk ldrh gS\

vU; rjhds

vU; gheksXyksfcu&laca/h chekfj;k¡ fdu txgksa ij ikbZ tkrhs gSa\

i"B 04

i"B 04 i"B 05

i"B 06i"B 08

i"B 10 i"B 10

i"B 15

i"B 16 i"B 17

i"B 17 i"B 18

i"B 19

i"B 19

i"B 20

i"B 21 i"B 23

i"B 24

i"B 25

vU; :ikra jk as d s lkFk HbS dh o'a kkuxq r ikz fIr d s jkxs &lca èa kh (clinical) ifj.kke

fldy lsy chekjh D;k gSfldy lsy chekjh ds izcaèku (management) ds lacaèk esa fodklgkbMªkWDlh;wfj;k vfLFk&eTtk izR;kjksi.k (Bone marrow transplant)

thu&fpfdRlk

xHkZ lekIr djuk

fldy lsy vkSj

fo"k; lwph

;g cqdysV ds ckjs esa cqfu;knh tkudkjh nsrh gSA

vki laokgd gSa ;k jksxh gSa ;k fldy lsy chekjh ds ckjs esa T;knk tkudkjh pkgrs gSa rks

vkidks ;g cqdysV t:j i<+uh pkfg,A bl cqdysV ds ys[kdksa uas bl chekjh] bl chekjh

dk ek&a cki l scPpk ase astUe d slkFk gh vkuk (vuoq fa'kd izkfIr)] bldh jksdFkke vkSj bykt

ds ckjs esa ewY;oku tkudkfj;ka nsus dh iwjh dksf'k'k dh gSA

vxj vki bl cqdysV esa crk, x, fdlh igyw ds ckjs esa T;knk tkudkjh pkgrs gSa rks

gekjh lykg gS fd vki vius MkWDVj ;k jk"Vªh; LokLF; izkf/dj.k (national health

authority) ls feysaA bl cqdysV ds ys[kd Hkh izlUurkiwoZd vkids lokyksa ds ;FkklaHko

tokc nsus dh iwjh dksf'k'k djsaxsA

(la[;k rhu)fldy lsy chekjh (SCD)

02

vè;{kdklans'k

fldy lsy

bu rhuksa cqdysVksa (bl cqdysV lfgr) dk mís'; chVk

vYiQk&FkSyklhfe;k (cqdysV&nks) vkSj fldy lsy chekjh (cqdysV&rhu) ds ckjs esa

tkuus ds bPNqd O;fDr;ksa dks ljy Hkk"kk esa egRoiw.kZ tkudkfj;ka nsuk gSA bu cqdysVksa dks

rS;kj djus esa viuk cs'kdherh ;ksxnku nsus ds fy, FkSyklhfe;k varjkZ"Vªh; iQsMjs'ku

(Thalassaemia International Federation) vius oSKkfud lykgdkj iSuy ds lnL;ksa

MkW- ,aMªksyk ,YiQFksjks vkSj MkW- ekbdy ,axksfLVfuvksfVl ds cgqr vkHkkjh gSA

iSuksl ,atyst+ksl

vè;{k] Vh vkbZ ,iQ

&FkSyklhfe;k (cqdysV ,d)

eq>s vk'kk gS fd yksxksa dks tkudkjh nsus vkSj tkx:dcukus okyh ;g cqdysV gheksXyksfcu ls tqM+h chekfj;ksa] budh jksdFkke vkSj bykt ds ckjs esa iwjh nqfu;k dks

dh VhvkbZ,Q dh dksf'k'kksa esa cgqr ennxkj lkfcr gksxhAtkx:d djus

FkSyklhfe;k varjkZ"Vªh;QsMjs'ku

ds ckjsa esa

,drk gekjk lacy gSgekjk vkn'kZ okD;

nqfu;k Hkj esa QSys FkSyklhfe;k ds gj jksxh dks leku :i ls vPNs Lrj dh LokLF; lqfo/kk miyC/k djkuk

gekjk y{;

03fldy lsy

¶FkSyklhfe;k varjkZ"Vªh; iQsMjs'ku (TIF) dh LFkkiuk lalkj ds gj ihfM+r ns'k esa

FkSyklhfe;k dh izHkkoh jksdFkke vkSj blds mfpr funku ,oa izca/u ds fy, jk"Vªh;

fua;=k.k dk;ZØeksa dks c<+kok nsus ds mís'; ls ess dh xbZ FkhA vkt TIF ¶vaczsyk

iQsMjs'ku gS] ftlesa 'kkfey gSa vkSj nqfu;k Hkj ds

yk[kksa jksfx;ksa dh ns[kHkky djrk gSA

FkSyklhfe;k varjkZ"Vªh; iQsMjs'ku fo'o LokLF; laxBu (WHO) ds lkFk vkSipkfjd rkSj

ij 1996 ls tqM+k gqvk gS vkSj ;g 60 ls vf/d ns'kksa ds bl {ks=k ls tqM+s oSKkfudksa ,oa

esfMdy izksiQs'kuyksa vkSj varjkZ"Vªh; ,oa ;wjksih; LokLF; fudk;ksa (health bodies),

iQkekZL;wfVdy daifu;ksa ,oa ,tsafl;ksa rFkk chekjh ls lacaf/r jksfx;ksa ds vU; laxBuksa ds

lkFk feydj dke djrk gSA

TIF dk f'k{kk&laca/h dk;ZØe blds lcls vf/d egRoiw.kZ vkSj liQy xfrfof/;ksa esa ls

,d gSA blesa LFkkuh;] jk"Vªh;] {ks=kh; vkSj varjkZ"Vªh; dk;Z'kkyk,¡] dkWUÚsal ,oa lsfeukj

vk;ksftr djus ds lkFk&lkFk LokLF; izksiQs'kuyksa] jksfx;ksa@muds ekrk&firk vkSj

ck¡Vs tkus okys ips±] if=kdk,¡ vkSj fdrkcsa rS;kj djuk]

mudk izdk'ku ,oa vuqokn 'kkfey gSaA

1987

60 ns'kksa ds 98 jk"Vªh; FkSyklhfe;k la?k

vke yksxksa

ds fy, 60 ls vf/d ns'kksa esa eqÝr

fldy lsy04

gheksXyksfcu&laca/kh chekfj;k¡ gheksXyksfcuksiSFkht+

fldy lsychekfj;ksads ckjs esa

ifjp;%

gheksXyksfcu ls tqM+h [kjkfc;ksa dk yky&jDr

dksf'kdkvksa (red blood cells) ij cqjk vlj

iM+rk gSA ;s yky&jDr dksf'kdk,a euq"; ds jDr

(blood) dk egRoiw.kZ fgLlk gksrh gaSA jDr ,d

cgrq gh egRoiw .k Z rjy inkFkZ (liquid) g S tk s'kjhj

d s vxa k as vkjS Årdk as (tissues) rd vkWDlhtu

(O )] gkeksZu] izksVhu] olk vkSj dkcksZgkbMªsV~l tSls t:jh rRo igqapkrk gS vkjS 2

dkcuZ MkbvkDW lkbM (Co )] ;fwj;k ,o a;fwjd ,flM tlS scds kj inkFkk ±sdk sokil y stkrk gAS2

[kwu ¼laiw.kZ jDr½%o;Ldk sa e]as ¶eTtk (marrow) uke d s ,d

fo'k"sk mQrd e as curk g]S tk s gfî;ó k as d s dsUnzh; fgLl s

(bone marrow) e asgkrs k gAS [kuw d snk segRoi.w k Z fgLl s

gkrs sg aS%&

(i) IykTek& ;g ,d ihyk ikuh tlS k inkFk Z g]S tk s

dyq jDr dk 55 ifzr'kr gkrs k g aSvkjS ble asikuh] yo.k

,o aegRoi.w k ZikzVs hu ik, tkr sgAaS

(ii) nlw j sfgLl se asrhu idz kj dh vR;ra NkVs h&NkVs h [kjck asdkfs'kdk, a (cells) gkrs h g Stk sekuo&'kjhj

dk fuek.Z k djrh gAS ; sg%S &

liQsn jDr dksf'kdk,¡ (white blood cells/WBC) ;k Y;wdkslkbV~l

IysVysV~l (platelets) ;k FkzksEckslkbV~l vkSj

yky jDr dksf'kdk,¡ (red blood cells/RBC) ;k ,fjFkzkslkbV~l

jDr

vfLFk eTtk

jDr dh ljapuk

fyEQkslkbVU;wVªksfQy

yky jDr dksf'kdk¡,

IysVysV~l

eksukslkbV IykTek

fldy lsyuksV% bl cqdysV esa blds ckn vYiQk] chVk] xkek] MsYVk 'kCnksa dks buds lacaf/r

ladsfrd fpÉksa dks Øe'k% a, b, g vkSj d esa fy[kk tk,xkA 05

euq"; ds jDr ([kwu) esa 45]00]000&50]00]000 yky&jDr dksf'kdk,¡ ?kwerh jgrh gSa vkSj buesa ls izR;sd esa gheksXyksfcu ds 300 fefy;u v.kq ik, tkrs gSaA gheksXyksfcu ls yky jDr dksf'kdk,¡ dks vkWDlhtu ykus&ys tkus dh {kerk feyrh gSA tks jDr esa mldk lcls egRoiw.kZ dk;Z gSA (ekuo tho&lajpuk dh dksf'kdkvksa vkSj vaxks dh of¼ vkSj dk;Z djus dss fy, vkWDlhtu vko';d gS) gheksXyksfcu v.kq ds Hkh nks izeq[k fgLls gksrs gS%&

(i) vkSj (ii)

(i) NksVh&NksVh bdkbZ;ksa ls cuk izksVhu gS] ftls vYiQk (a) vkSj xSj&vYiQk] tSlas chVk (b)] xkek (g)] MsYVk (d) Ja[kykvkas (chains) ds uke ls tkuk tkrk gSA vYiQk (a) Ja[kyk,¡ chVk (b) Ja[kykvksa ds lkFk feydj gheksXyksfcu , (HbA) cukrh gaS] tks o;Ldksa esa T;knkrj ikbZ tkrh gS vkSj Hkzw.k (fetus) esa ik, tkus okys gheksXyksfcu dk 10 izfr'kr rd gksrh gSA vYiQk (a) Ja[kyk,¡ nwljh Ja[kykvksa ds lkFk feydj Hkh xHkZ/kj.k vkSj Hkzw.k&thou ls tUe ysus rd ekuo thou dh fofHkUu voLFkkvksa esa ik;k tkus okyk gheksXyksfcu cukrh gSaA

(molecules)

Xyksfcu ghe

Xyksfcu

izR;sd jDr dksf'kdk ,d [kkl dk;Z djrh gS vkSj buesa ls izR;sd vius [kkl rjhds ls ekuo dks LoLFk j[kus esa enn djrh gS] ftlesa baiQsD'ku ls cpkuk (liQsn jDr dksf'kdk,¡) fdlh jDr ufydk (vessel) ds {kfrxzLr gksus ij [kwu dk cguk de djuk ( ) rFkk mQrdk asvkjS egRoi.w k Zvxa k asrd vkDW lhtu igp¡q kuk (yky jDr dkfs'kdk,)¡ 'kkfey gAaS

euq";ksa esa dbZ chekfj;k¡ jDr esa vkbZ fodkj ds dkj.k gksrh gSa vkSj jDr ds izHkkfor fgLlksa ds vuqlkj bUgsa vyx&vyx oxks± (liQsn jDr dksf'kdkvksa ls lacaf/r chekfj;k¡] IysVysV~l ls lacaf/r chekfj;k¡ vkSj yky jDr dksf'kdkvksa ls lacaf/r chekfj;k¡) esa j[kk tkrk gSA yky jDr dksf'kdkvksa ls lacaf/r chekfj;ksa esa vU; chekfj;ksa ds vykok eka&cki ls izkIr gheksXyksfcuksiSFkh ;k gheksXyksfcu&laca/h chekjh] ftuesa lcls T;knk [krjukd FkSyklhfe;k (vYiQk&a vkSj chVk&b) vkSj fldy lsy chekjh gS rFkk bUgsa bu ukeksa ls blfy, tkuk tkrk gS] D;ksafd ;s chekfj;k¡ yky&jDr dksf'kdkvksa ds gheksXyksfcu (,d fo'ks"k izdkj ds izksVhu)esa gksus okys fodkj ds dkj.k gksrh gaSA

IysVysV~l

gheksXyksfcu

gheksXyksfcu

ghe

ghe

vkWDlhtu

vkWDlhtu

vkWDlhtu

vkWDlhtu

Xyksfcu

yz zya2 ya1 a2 a1 q1 e gG gA yb db

1116

z2 e2 z2 g2 e2a2 a2 g2 a2b2 a2d2

Hb Gower 1 Hb Portland Hb Gower 2 HbF HbA HbA2

AdultFetusEmbryo

vkd`fr 2-11 a- b- u- 16 rFkk 11 ij dzekuqlkj ,df=kr gks tkrs gSaA foLr`r

bUVªksul dks xgjk jax] 5* rFkk 3* uksu&dksfMxa {ks=k dks gSp rFkk ,DlksUl dks [kkyh j[kk x;k gSA

rFkk Xyksfcu u- a- rFkk b-Xyksfcu thuksa es ØksekslksEl

fldy lsy06

(ii) oky sfgLl se as (iron, ) gkrs k g]S tk sdkfs'kdkvk asd sc<u+ svkjS mud slkekU; :i l s dk; Z djr s jgu s d s fy, vko';d rRo gAS vk;ju e asvkDW lhtu dk s vklkuh l s izkIr djus vkSj [kksus dh {kerk gkrs h g]S ftll sghekXsykfscu d sv.k qdk svkDW lhtu yku&s y stku sdh {kerk feyrh g SvkjS 'kjhj d smQrdk as,o avxa k asrd vkDW lhtu dk svklkuh l sigp¡q k;k tk ldrk gAS o;Ldk asd s'kjhj e as yxHkx 4 xkze vk;ju gkrs k g]S ftld s 75 ifzr'kr Hkkx dk bLres ky yky jDr dkfs'kdkvk asd sghekXsykfscu v.kvq k asds la'ys"k.k e asgkrs k gAS

iz;ksx'kkyk (laboratory) esa gksus okyh lkekU; (routine) [kwu&tk¡p esa ik, tkus okys gheksXyksfcu dk Lrj fdlh O;fDr ds vk;ju ds Lrj dh tkudkjh nsrk gSA

ghe vk;ju ykSg

vuoq kfa 'kdrk (Inheritance) % ek&a cki l s chekjh dk

cPpk as e as vkuk

gheksXyksfcu&laca/h chekjh eka&cki ls feyus okyh chekjh gS] tks tho&foKku essads uke ls

izpfyr fl¼akr ds vuqlkj ekrk&firk ls cPpksa dks izkIr gksrh gSa] ;kfu ekrk&firk ds lHkh [kkl y{k.k cPpksaa dks thu] tks vuqokaf'kdrk dh ,d tSfod bdkbZ gS vkSj iwjs ekuo&thou ds nkSjku of¼ ,oa fodkl dks fua;f=kr djus ds fy, vko';d tkudkfj;k¡ nsrh gS] ds ekè;e ls izkIr gksrs gSaA eka&cki ls feyus okyh bu chekfj;ksa ds fy, ekrk&firk nksuksa dk thu ftEesnkj gksrk gSa] tks uj ,oa eknk cPpksa dks leku :i ls (autosomal) izHkkfor dj ldrk gSA

& ;g ,d jklk;fud inkFk Z g]S ftl s vDlj l{a kis e as Mh,u, dgk tkrk gAS Mh,u, thu dk egRoi.w k Z fgLlk gkrs k gAS ekuo&tho lja puk d s db Z efq'dy dk; Z dju s d s fy, bldh cgrq cMh+ l[a ;k e ast:jr gkrs h gAS Mh,u, d scM s+<js ij dkfs'kdk e aslkFk&lkFk tMq s+thu Øksekst+kse d suke l stku stkr sgAaS Øksekst+kse d s23 tkMs s+gkrs sg]aS ftue asl svkèk sekrk l svkjS vk/ sfirk l sikzIr gkrs sgAaS

¶esaMsfy;u fjlsflo vkWVkslksey iSVuZ vkWQ bUgsfjVsUl

fM&vkDW lhjhckUs;fwDyd vEy (DNA)

o;Ld gheksXyksfcu ds ekeys esa mnkgj.k ds fy,] blds izeq[k ?kVdksa a ,oa b Ja[kykvksa dk mRiknu vkSj la'ys"k.k dk dke fo'ks"k Øksekst+ksEl ij fLFkr thuksa }kjk fu;af=kr fd, tkrs gSaA Øksekst+kse u- 16 ij pkj (4) a&Xyksfcu thu vkSj Øksekst+kse u- 11 ij nks (2) xSj&a&Xyksfcu (tSlsa b, g vkSj d) leku la[;k esa Øe'k% a vkSj b J`a[kykvksa ds cjkcj&cjkcj ek=kk esa mRiknu ds fy, ftEesnkj gksrs gSaA a&Ja[kaykvksa ds mRiknu (ftls

5' 3'

gkbZMªkstutksM+

'kwxj&QkslQsVjhM+

vk/kkj

nksgjk Mh-,u-,- gsfyDl

5' 3'

1gf

d e

s+ 3-

u

,e¼n

sy

ykM ¾

4,

m½

Mh,u,3'

5'

5'

3'

fldy lsy

aHbH jksx fldy lsy ,usfe;k (jDrkYirk) (HbSS)

a&FkSyklhfe;k gkbZMªkIl fiQVSfyl HbS/b &FkSyklhfe;k (¾Hb ckV~Z dk gkbZMªkWIl fiQVSfyl) HbSC chekjha&Ja[kyk :ikarj HbSD chekjh

vU; de ik, tkus okys fldfyax fodkj

HbS/EHbS/O Arab

b&FkSyklhfe;k

xaHkhj b&FkSyklhfe;k

eè;e b&FkSyklhfe;k

HbE/b&FkSyklhfe;kvU; de gksus okyh FkSyklhfe;k

&FkSyklhfe;k fldy lsy fodkj

gheksXyksfcu&laca/h izeq[k chekfj;k¡ gS%

a&J[kayk laca/h chekjh b&J[kayk laca/h chekjh

07

oSKkfud 'kCnkoyh esa dksfMax ds uke ls tkuk tkrk gS) fy, ftEens kj thu e as fdlh rjg dk nk"sk (deh) bu J[a kykvk as d s mRiknu e as deh yk ldrk g S vkjS bll sa&FkSyklhfe;k dk loa kgd gkus s dh fLFkfr cu ldrh gAS vxj ;g nk"sk vf/d thuk as ij vlj Mkyrh g Srk s a&J[a kyk d s mRiknu e as vkjS deh vk tkrh g S vkjS bl dkj.k O;fDr FkyS klhfe;k l s xHa khj :i l s iHz kkfor gk s ldrk gAS blh idz kj] b&J[kya kvk as (b&Xykfscu thu) dh thu dkfsMxa e as nk"sk b&J[a kykvk as d s mRiknu e as deh yk ldrk g S;k mRiknu ijw h rjg cna gk s ldrk gAS dkbs Z O;fDr

b&FkSyklhfe;k dk loa kgd g SvFkok eè;e ;k xHa khj FkyS klhfe;k l sihfMr+ jkxs h g]S bldk irk djuk bl ckr ij fuHkjZ djrk g Sfd b&J[kya k d smRiknu e asdeh fdl Lrj rd vkb ZgAS

,ls s FkyS klhfe;k] ftue asXykfscu dk mRiknu iHz kkfor gkrs k g]S d s Bhd myV dNq ,ls h fLFkfr;k ¡gkrs h g]aS ftue asthu e asnk"sk d sifj.kkeLo:i xyr idz kj d sikzVs hu dk mRiknu gkrs k g]S ftUg asvlkekU; ;k lja pukRed ghekXsykfscu :ikra j (structural haemoglobin variants) dgk tkrk g]S vkjS ftudh cukoV vkjS dk; Z lkekU; ghekXsykfscu (HbA) dh cukoV vkjS dk; Z l s vyx gkrs s gAaS mudh vuoq kfa'kd ikzfIr (ekrk&firk l s feyuk) vkjS funku l s lca fa/r ifj.kke dk mYy[s k cdq yVs l~ 1] 2 vkjS 3 e as fd;k x;k gSA

d s

(carrier / trait)

Øksekst+ksEl

fldy lsy08

ekrk&firk ds vuqokaf'kd (tUe ds lkFk gh ekrk&firk ls cPpksa dks feyuk) y{k.kksa ds vuqlkj fdl izdkj cPpksa dks gheksXyksfcu :ikarj S(HbS) izkIr gksrk gS] bldh ppkZ bl cqdysV esa dh xbZ gSA :ikarj (variants) HbE, HbC, HbD vkSj HbO vjc ds ckjs esa Hkh crk;k x;k gSA vU; nks cqdysVksa (1 vkSj 2) esa Øe'k% b-vkSj -FkSyklhfe;k rFkk buds la;ksx esa vU; :ikarjksa dh ppkZ dh xbZ gSA

;fn ekrk&firk nksuksa esa leku (common) o;Ld gheksXyksfcu gks] rks ftruh ckj og cPpk iSnk gksus dh mEehn djsaxs] mruh ckj muds cPps dks ;s leku gheksXyksfcu izkIr gksus dh 4 esa ls 4 (;kfu 100%) dh laHkkouk jgsxhA muds cPpksa }kjk vkuqokaf'kd :i ls fdlh vlkekU; (unusual) vkSj vLokHkkfod (abnormal) gheksXyksfcu izkIr djus dksbZ laHkkouk ugha gksxhA

;fn ekrk&firk esa ls dksbZ ,d :ikarj fldy gheksXyksfcu (la{ksi esa] HbS) dk laokgd gks vkSj nwljk lkekU; gheksXyksfcu (HbA) dk laokgd gks] rks bu ekrk&firk }kjk iSnk cPps esa HbS :ikarj dh vkuqokaf'kd izkfIr tUe ls feyus dh laHkkouk nks esa ,d (;kfu 50%) gkrs h g]S ;kfu og viu s ekrk&firk e asl s ,d dh rjg HbS dk loa kgd gkxs k@gkxs hA HbS :ikarj ds laokgd O;fDr dks fuEufyf[kr vU; uke Hkh fn, tkrs gSa%&

fldy lsy xq.k dk laokgd (Sickle cell trait)

fldy lsy dk gsVjkstkbxl O;fDr (Heterozygous)

fldy lsy dk laokgd (Sickle cell carrier)

gheksXyksfcu S ds laokgd chekjh ls xzflr ugha gksrs gSaA muesa dksbZ 'kkjhfjd ;k ekufld y{k.k ugha gksrs vkSj mUgsa fo'ks"k [kku&iku (diet)] MkWDVjh lykg ;k bykt dh t:jr ugha gksrhA

mudh yky jDr dksf'kdkvksa dk vkdkj lkekU;r% xSj&laokgd (non-carrier) O;fDr;ksa dh yky jDr dksf'kdkvksa ftruk gh gksrk gS] D;ksafd gheksXyksfcu dh ek=kk esa dksbZ deh ugha vkrhA dHkh&dHkh NksVs vkdkj dh yky jDr dksf'kdk,¡ HbS ds mu laokgdksa esa ns[kh tkrh gS] ftUgsa HbS ds lkFk&lkFk a-FkSyklhfe;k dh Hkh vkuqokaf'kd izkfIr gqbZ gSA bu nksuksa dk ,d lkFk gksuk dbZ {ks=kksa ds yksxksa esa vke gSA vU;Fkk] ekbØksLdksi ls

a

1)HbA / HbA

2)HbS / HbA

(1)

(2)

(3)

fldy lsy y{k.k ds laokgd ds ckjs esa

fldy lsy

fldy lsy

tk¡ph xbZ laokgd yky jDr dksf'kdkvksa vkSj lkekU; yky jDr dksf'kdkvksa esa iQdZ ugha fd;k tk ldrkA

dHkh&dHkh cny s g,q vkdkj (poikilocytosis) vkjS udqq hy s fljk asokyh dkfs'kdk, ¡ fn[kkb Z nrs h g]aS yfsdu fo'k"skrk&lpw d (typical) fldy vkdkj dh dkfs'kdk,]¡ tk s gkes kts kbxkVs voLFkk e as bl chekjh dk fo'k"sk y{k.k gkrs k g]aS loa kgdk ase asvDlj ugh afn[kkb Znrs h gAaS

laokgd voLFkk le; ds lkFk chekjh esa ugha cny ldrh (tSlk fd b vkSj a- FkSyklhfe;k ds ekeys esa Hkh ugh gksrk gS)A okLro esa] tc rd bldh [kkl tk¡p u dh tk,] rc rd T;knkrj yksxksa dks bldk irk Hkh ugha yxrkA gheksXyksfcu S dk laokgd gksuk LokLF;] thou dh vf/drk ;k xq.koÙkk (quality) ij dksbZ izHkko ugha MkyrkA ,slk cgqr de gksrk gS tc dksbZ laokgd vkWDlhtu dh xaHkhj deh dh voLFkk esa gksrk gS] vkSj mls nnZ vkSj [kwu dh ufy;ksa esa :dkoV eglwl gksrh gSA

laokgd xHkZorh efgykvksa ds ckjs esa D;k jk; gS\

vU; xHkZorh efgykvksa dh rjg] HbS dh laokgd efgykvksa esa Hkh vk;ju dh deh gks ldrh gS vkSj mUgsa vfrfjDr vk;ju ysus dh t:jr iM+ ldrh gSA cPps ds tUe ds ckn [kwu dh deh (anaemia) esa lqèkkj gks tkrk gSA laokgd xHkZorh efgykvksa esa xSj&laokgd efgykvk as dh ryq uk e asi's kkc d slØa e.k (infection) dh T;knk lHa kkouk jgrh gAS

D;k dksbZ ,slk mipkj gS] ftlls O;fDr dks laokgdrk ls NqVdkjk fey tk,\

ugha] fldy lsy ds lkFk iSnk gq, O;fDr dks thou Hkj blds lkFk jguk gksxkA

D;k fldy lsy ds y{k.k ckn esa fdlh Hkh mez esa ,d O;fDr ls nwljs O;fDr esa iQSy ldrs gSa\

fldy lsy ds y{k.k okrkoj.k] [kwu p<+kus ;k laØe.k ds fdUgha nwljs lkèkuksa }kjk ,d O;fDr ls nwljs O;fDr esa ugha tk ldrsA

D;k fldy lsy ds laokgd jDrnku dj ldrs gSa\

;fn fldy lsy ds laokgd ds gheksXyksfcu dk Lrj jDrnku djus ds jk"Vªh; ekunaM ij [kjk mrjrk gks] rks og jDrnku dj ldrk gSA

09

fldy lsy10

T;knkrj ekeyksa esa] vklku vkSj [kkl (specific) yscksjsVjh&tk¡p }kjk irk yxk;k tk ldrk gS fd fdlh O;fDr esa fldy lsy ;k gheksXyksfcu&laca/h fdlh nwljh chekjh ds xq.k gSa ;k ughaA tkapksa ds igys vkSj ckn] vuqokaf'kdrk ds laca/ esa fo'ks"kKksa ls ijke'kZ (tSls&Hkjkslsean tkudkfj;ka vkSj ekxZn'kZu miyC/ djkuk) djus ij jksdFkke ds fuEufyf[kr egRoiw.kZ igyqvksa ds ckjs esa tkudkjh izkIr gksxhA

tk¡p dgka djkbZ tkuh pkfg,\

tk¡p ds ifj.kkeksa ls D;k irk gksrk gS\

laokgd gksus dk D;k eryc gksrk gS\

vxj ifr&iRuh nksuksa laokgd gksa] rks dkSu&dkSu ls fodYi miyC/ gSa\

fldy lsy fodkj dh izÑfr vkSj mipkj

fldy lys vkjS ghekXsykfscu&lca /a h vU; chekfj;k as d s fy, ycs kjs Vs jh tkp¡ ea s lk/kj.k (routine) [kuw &tkp¡ dh tkrh g]S ftls dEIyhV CyM dkmVa d s uke l s tkuk tkrk gAS bl tkp¡ ls ;g irk yxk;k tkrk gS fd yky jDr dkfs'kdkvka s ea s ghekXs ykfscu dh ek=kk fdruh gS vkjS yky jDr dkfs'kdkvka s dk vkdkj ,oa okYW ;ew fdruh g]S ftUga s Øe'k% ehu dkiW lZ D;yw j ghekXs ykfscu (MCH) ,oa ehu dkiW lZ D;yw j okYW ;ew (MCV) ds uke ls tkuk tkrk gAS b&FkyS klhfe;k x.q k ds loa kgd O;fDr;ka s ds foijhr fldy lys ds loa kgd O;fDr;ka s ea s MCV ,o a MCH lkekU; gk sldrh gAS

fdlh O;fDr ea s bl chekjh ds x.q k dh ektS nw xh ds ckjs ea s tkuus ds fy, fd, tkus okyh dNq tkp¡ ka s ea s ls ,d ycs kjs Vs jh ifzØ;k g]S ftls ghekXs ykfscu byDs Vkªis Qkjs fsll ds uke ls tkuk tkrk gAS bl ifzØ;k ls o;Ld ghekXs ykfscu ds Øe'k% iez [q k vkjS NkVs s ?kVdk]as ghekXs ykfscu&, (HbA) vkjS ghekXs ykfscu& ,2 (HbA2) dh ek=kk dk irk pyrk gAS o;Ld yky jDr dkfs'kdkvka s ea s ektS nw vU; ghekXs ykfscu tlS s Hk.wz k (fetal) ghekXs ykfscu (HbF) vkjS ghekXs ykfscu&,l (HbS) dk irk Hkh byDs Vkªis Qkjs fsll }kjk yxk;k tk ldrk gAS fldy lys loa kgdka s ds ekeys ea s HbA2 dk Lrj lkekU; gkrs k g]S yfsdu HbS Hkkx (fraction) dyq ghekXs ykfscu dk 40 ifzr'kr rd gkrs k gAS

bl chekjh dh igpku (diagnosis) djus ds vU; rjhdksa esa vkblks&bysfDVªd iQksdflax (IEF) d s uke l s tkuh tku s okyh ,d vU; fofèk] vkjS gkb Z i'sz kj fyfDoM Økes VS kxs kziQh

dkbs Z O;fDr fldy lys dk loa kgd gS ;k ugh]a ;g tkuus ds fy, ycs kjs Vs jh tkp¡

* Bio-Rad HPLC for example is considered by many as Gold Standard for Hb determaination

dkbs Z O;fDr loa kgd g S ;k ugh]a bldk irk dlS s pyxs k\

fldy lsy

(HPLC) uke dk ,d nwljk rjhdk 'kkfey gSA ;g nwljh fofèk ,d eagxh yscksjsVjh VsDykukWth gS] ysfdu viuh mPp laosnu'khyrk ,oa fof'k"Vrk vkSj [kkldj] rst xfr ls nSfud ifj.kke nsus ds dkj.k vktdy bls gheksXyksfcu ls lacafèkr chekfj;ksa dk irk yxkus dh lcls egÙoiw.kZ rduhd ekuk tkrk gSA ,slh iz;ksx'kkyk,¡] tks fo'ks"k rduhd ls ySl ugha gSa] ls izkIr uewus] tSls IEF ;k HPLC jk"Vªh; lanHkZ (reference) yscksjsVjh dks Hksts tk ldrs gSa] tgk¡ vklkuh ls igpku esa ugh vkus okys ekeys dks fuiVk;k tk ldrk gS vkSj ,slh fof'k"V tk¡pksa dk bLrseky fd;k tk ldrk gSA

;fn mijksDr tk¡pksa dk dksbZ Li"V urhtk ugha fudyrk gS vkSj [kkldj] vxj vU; :ikarj ;k FkSyklhfe;k Hkh lkFk&lkFk gks rFkk yscksjsVjh oSKkfud lgh igpku dh iqf"V ugha dj ikrs gSa] rks nwljh vkSj vfèkd fof'k"V tk¡psa miyCèk gSaA

;g tsusfVd tk¡psa gSa] ;kfu bu tk¡pksa esa O;fDr gh ugha] cfYd mlds ifjokj ds vU; lnL;ksa ds tsusfVd inkFkZ vkSj muds jDr ds DNA dk ijh{k.k fd;k tkrk gS] rkfd fuf'pr igpku dh tk ldsA

;fn ekrk&firk nksuksa fldy lsy ds laokgd (HbS) gaS] rks os ftruh ckj cPpk iSnk

djsaxs] mruh ckj cPps dk fldy lsy xq.k dk laokgd gksus dh laHkkouk nks esa ls ,d

( 50%) gksxh vkSj cPps ds iwjh rjg ls vizHkkfor gksus dh laHkkouk pkj esa ls

,d ( 25%) gksxh ;kfu lkekU; gheksXyksfcu (HbA) dh oa'kkuqxr izkfIr

(inherit) djrs gSa] rFkk muds cPps }kjk fldy lsy fcekjh (HbSS) dh oa'kkuqxr

izkfIr dh laHkkouk pkj esa ,d ( 25%) gksxh] vU;Fkk bls fldy lsy fcekjh ;k

fldy lsy fcekjh ds fy, gksekstkbxl dgk tkrk gSA

vU; laHkkoukvksa ds varxZr fuEufyf[kr lfEeJ.k (combinations) 'kkfey gSa &

;fn ekrk&firk esa ls ,d fldy lsy laokgd gSa vkSj nwljs dks fldy lsy ,uhfe;k

(HbS/HbSS) gS] rks ftruh ckj og cPps iSnk djsaxs &

cPps }kjk fldy lsy xq.k (HbS) dh oa'kkuqxr izkfIr (sickle cell carrier trait) dh

laHkkouk pkj esa ls nks (;kfu 50%) gkxs h vkjS fldy lys ,uhfe;k (HbSS) dh lHa kkouk

pkj e asl snk s (;kfu 50%) gkxs hA

*

3. HbS/HbS

vkÑfr A

4. HbS/HbSS

;kfu

;kfu

;kfu

11

fldy lsy12

lkekU;b&FkSyklhfe;k

vkÑfr

HbS

ekrk&firk nksuksa fldy lsy laokgd

laHkkouk,a%

25 izfr'kr SCD chekjh (HbSS)

ls xzflr 50 izfr'kr

fldy lsy laokgd25 izfr'krlkekU;

A

ss s

S S S S

fldy lsy

5. HbS/ -FkSyklhfe;k

vkÑfr 1

6. HbS/HbC chekjh

7. HbS/HbD iatkc

b

;fn ekrk&firk esa ls dksbZ ,d fldy lsy (HbS) laokgd gS vkSj nwljk -

FkSyklhfe;k laokgd gS] rks os tc Hkh cPpk iSnk djsaxs] muds cPps }kjk lkekU;

gheksXyksfcu (HbA) dh oa'kkuqxr izkfIr dh laHkkouk pkj esa ls ,d ( 25%)]

fldy lsy ds xq.k dh oa'kkuqxr izkfIr (HbS, sickle cell trait) dh laHkkouk pkj esa

ls ,d ( 25%), b&FkSyklhfe;k ds xq.k dh oa'kkuqxr izkfIr (b-thalassemia

trait) dh laHkkouk pkj esa ls ,d ( ) vkSj fldy lsy b&FkSyklhfe;k

,uhfe;k (HbS/b-Thal) dh oa'kkuqxr izkfIr dh laHkkouk pkj esa ls ,d ( 25%)

gksxhA

;fn ekrk&firk esa ls dksbZ ,d fldy lsy laokgd gS vkSj nwljk ,d vU;

gheksXyksfcu :ikarj] gheksXyksfcu C (HbC) dk laokgd gS] rks og tc Hkh cPps iSnk

djsaxs] muds cPps esa fuEufyf[kr laHkkouk gksxh% &

muds cPps }kjk lkekU; gheksXyksfcu (HbA) dh oa'kkuqxr izkfIr dh laHkkouk pkj esa

l s ,d ( 25%) ;k ghekXsykfscu C d s x.q k (HbC/haemoglobin C trait) dh

o'a kkuxq r ikzfIr dh lHa kkouk pkj e asl s,d ( 25%) ;k fldy lys x.q k (HbS/sickle

cell trait) dh oa'kkuqxr izkfIr dh laHkkouk pkj esa ls ,d ( 25%) vkSj fldy

gheksXyksfcu C fcekjh (HbS/C) dh laHkkouk pkj esa ls ,d ( 25%) gksxhA

;fn ekrk&firk esa ls ,d fldy lsy laokgd (HbS) gS vkSj nwljk gheksXyksfcu D

iatkc laokgd gS rks os ftruh ckj cPps iSnk djsaxs] muds cPps esa fuEufyf[kr

laHkkouk gksxh%&

muds cPps }kjk lkekU; gheksXyksfcu (HbA) dh oa'kkuqxr çkfIr dh laHkkouk pkj esa

ls ,d ( 25%)] gheksXyksfcu D iatkc (;g gkfu jfgr gS) ds xq.k

(HbD/haemoglobin D Punjab trait) dh oa'kkuqxr izkfIr dh laHkkouk pkj esa ls

,d ( 25%), gheksXyksfcu S (gkfu jfgr) ds xq.k (HbS/sickle cell trait) dh

laHkkouk pkj esa ls ,d ( 25%) gksxh vkSj pkj esa ls ,d ( 25%) laHkkouk

;g gS fd cPpk ekrk&firk esa ls ,d ls gheksXyksfcu D iatkc vkSj nwljs ls

gheksXyksfcu S dh oa'kkuqxr izkfIr dj ldrk gSA bl cPps esa gheksXyksfcu S/D dh

[kjkch gksxhA

b

;kfu

;kfu

;kfu

;kfu

;kfu

;kfu

;kfu

;kfu

;kfu

;kfu

;kfu ;kfu

25%

13

lkekU;b&FkSyklhfe;k

vkÑfr 1

HbS

HbS

vkSjb&FkSyklhfe;k

laHkkouk,a%

25 izfr'kr HbS/bls xzflr

25 izfr'krb&FkSyklhfe;k

laokgd

25 izfr'krHbS

laokgd 25 izfr'krlkekU;

s

S S

fldy lsy14

fldy lsy

8. HbS/HbE

9. HbS/HbO vjc

vU; :ikra jk as d s lkFk HbS dh o'a kkuxq r ikzfIr d s unS kfud ifj.kke

;fn ekrk&firk esa ls ,d gheksXyksfcu S dk vkSj nwljk gheksXyksfcu E dk laokgd gksrk gS] rks izR;sd xHkkZoLFkk esa pkj laHkkouk,¡ jgrh gSa &

bl ckr dh pkj esa ls ,d ( 25%) laHkkouk jgrh gS fd cPpk fcYdqy Hkh laokgd ugh gks] pkj esa ls ,d ( 25%) laHkkouk cPps dk gheksXyksfcu E (gkfu jfgr) dk laokgd gksus dh] pkj esa ls ,d ( 25%) laHkkouk gheksXyksfcu S(gkfu jfgr) dk laokgd gksus dh jgrh gS vkSj pkj esa ls ,d ( 25%) laHkkouk ;g jgrh g S fd cPpk ekrk&firk e as l s ,d l s ghekXsykfscu E vkjS nlw j s l s ghekXsykfscu S dh o'a kkuxq r ikzfIr dj ldrk gAS bl cPp se asghekXsykfscu S/E dh [kjkch gkxs hA

tc ekrk&firk esa ls ,d gheksXyksfcu S dk laokgd gksrk gS vkSj nwljk gheksXyksfcu O vjc dk laokgd gksrk gS] rks izR;sd xHkkZoLFkk esa pkj laHkkouk,¡ jgrh gSa &

cPps }kjk lkekU; gheksXyksfcu (HbA) dh oa'kkuqxr izkfIr dh laHkkouk pkj esa ls ,d ( 25%)] gheksXyksfcu O vjc ds xq.k (gkfu jfgr) dh oa'kkuqxr izkfIr dh laHkkouk pkj esa ls ,d ( 25%)] fldy lsy ds xq.k (gkfu jfgr) dh oa'kkuqxr izkfIr dh laHkkouk pkj esa ls ,d ( 25%) gks ldrh gS] vkSj pkj esa ls ,d (25%) laHkkouk ;g jgrh gS fd cPpk ekrk&firk esa ls ,d ls gheksXyksfcu O vjc dh vkSj nwljs ls gheksXyksfcu S dh oa'kkuqxr izkfIr dj ldrk gSA ;g gheksXyksfcu S /

O vjc dh [kjkch gksxhA

HbS / HbC, HbS / HbD iatkc] HbS/HbE vkSj HbS/HbO vjc fodkj fldy lsy lacaèkh [kjkfc;ka gSaA os cgqr de gksrs gSa vkSj lkekU;r% gYds izdkj ds fldy lsy fodkj gksrs gSaA gkyk¡fd dqN esa fofHkUu Lrjksa dh [kwu dh deh fodflr gks ldrh gS vkSj le;&le; ij tksM+ksa ;k 'kjhj ds vU; vaxksa esa xaHkhj nnZ gks ldrk gSA dqN dks xaHkhj LokLF; leL;kvksa dk Hkh lkeuk djuk iM+ ldrk gS vkSj ckj&ckj vLirky esa HkrhZ gksus dh t:jr iM+ ldrh gSA bu fodkjksa ls ihfM+r yksxksa dks tk¡p vkSj lykg ysus ds fy, fu;fer :i ls fldy lsy Dyhfud tkuk pkfg,A

;kfu ;kfu

;kfu ;kfu

;kfu ;kfu

;kfu ;kfu

15

fldy lsy16

orZeku esa] igys gh bldk vanktk yxkuk eqf'dy gS fd fdlh [kkl tksM+s ds cPpksa esa gYdk] eè;e ;k xaHkhj HbS/HbC, HbS/HbO iatkc] HbS/HbE ;k HbS/O [kjkch gSA gkyk¡fd xHkkZoLFkk ds izkjaHk esa bu [kjkfc;ksa dk irk djus ds fy, fdlh f'k'kq dh tk¡p djuk laHko gSA ^tksf[ke iw.kZ tksM+ksa** dks vius fy, miyCèk fodYiksa ij ppkZ djus ds fy, gheksXyksfcu chekfj;ksa ds fo'ks"kK lykgdkj (counselor) ls feyuk pkfg,A mUgsa ,slk xHkkZoLFkk vkjaHk gksus l sigy sgh djuk pkfg, ;k xHkkoZ LFkk vkjHa k gkrs sgh] ftruh tYnh lHa ko gk sld]s djuk pkfg,A

bl voLFkk e asjkxs h d s jDr dk yxHkx lia .w k Z ghekXsykfscu HbS gkrs k gAS bl :ikra j l s ;Dq r yky jDr dkfs'kdkvk asdk vkdkj mHkk;ory (bi-concave) ls cny dj v¼Zpaækdkj ;k g¡fl;s (sickel) ds vkdkj dk gks tkrk gS] ysfdu yksp (flexibility) ds ekeys esa cgqr vfèkd l[r gks tkrk gSA bldk eryc ;g gS fd og lkekU; gheksXyksfcu (HbA) ls ;qDr yky jDr dksf'kdkvksa dh rjg viuk vkdkj ugha cny ldrs gSa vkSj bl dkj.k budk NksVh jDr ufy;ksa ds jkLrs fudyuk eqf'dy gks tkrk gSA vkWDlhtu dh deh dh gkyr esa ;k laØe.k ls cq[kkj (infection) ds ekeys esa ;k ty dh deh gks tkus dh gkyr (dehydration) esa yksp dh vuqifLFkfr xaHkhj :i èkkj.k dj ldrh gS vkSj bu ifjfLFkfr;ksa esa fldy yky jDr dksf'kdkvksa dh la[;k cgqr T;knk c<+ tkrh gS] ftlls jDr ds ekxZ esa :dkoV gks tkrh gS- blds ifj.kkeLo:i jksxh dks 'kjhj ds ml Hkkx esa nnZ eglwl gksrk gS] ftl Hkkx dks jDr izkIr ugha gks jgk gksrk gSA bl rjg dh ?kVuk,¡ bruh xaHkhj Hkh gks ldrh gS fd ;s tksM+ksa] Iyhgk (spleen)] fdMuh (kidney) vkSj ;gk¡ rd dh fnekx tSls Årdksa dks Hkh uqdlku igqapk ldrh gSaA blds vykok pwafd ;s ifjofrZr yky jDr dksf'kdk,¡ (fldy lsYl) lkekU; dksf'kdkvksa ftruh yach vofèk rd ifjpkyu (circulation) esa thfor ugha jg ldrh gSa vkSj bl izdkj yxkrkj u"V gksrh jgrh gSa] ftlls jksxh dks dqN gn rd [kwu dh deh dk vuqHko gksrk gS] tks [kkl ifjfLFkfr;k as e as xHa khj gk s ldrh g S vkjS [kuw

ekrk&firk esa ls ,d ls FkSyklhfe;k y{k.k vkSj nwljs ls HbS dh oa'kkuqxr izkfIr ds ifj.kkeLo:i gheksXyksfcu fodkj (HbS/B) gksxk] ftldk uSnkfud ifj.kke fldy lsy

chekjh] tks b-FkSyklhfe;k estj@bUVjfefM;k ls cgqr vyx gS] ds leku gksxk vkSj blfy, bldk izcaèku Hkh mlh izdkj fd;k tkrk gS] ftl izdkj fldy lsy chekjh dk

fd;k tkrk gSA b&FkSyklhfe;k dh xaHkhjrk Bhd mlh izdkj de&T;knk gksrh jgrh gS] ftl izdkj fldy lsy chekjh esa gksrh gSA

b-

fldy lsy chekjh ;k [kqu dh deh D;k gS\

fldy lsy

fldy lsy

p<+kus dh t:jr iM+ ldrh gSA yEch vof/ dh [kjkch dh jksdFkke vkSj blls iSnk gksus okyh eqf'dyksa ds izcaèku ls lacafèkr fo'ks"k dsaæksa esa fldy lsy ,uhfe;k dk mipkj djkus dh t:jr iM+rh gSA blesa izfrj{k.k (immunization) vkSj fu;fer :i ls isaflfyu (penicillin) ysdj laØe.kksa dh jksdFkke djuk 'kkfey gSA bldk eryc nnZ dk bykt djus ls Hkh gS] tks bruk rhoz gks ldrk gS fd vLirky esa mipkj ysus dh t:jr iM+ ldrh gSA bu eqf'dyksa esa ls dqN dh izHkkoh jksdFkke ds fy, t:jh gS fd jksxh ij cpiu dh 'k:q vkr l sgh utj j[kh tk,A tfVyrkvk as (complications)dh jkds Fkke vkjS bld sfodflr gkus sl sjkds u sd sfy, iHz kkfor cPp sdk slefqpr fpfdRlk miyCèk djku sd sfy, uotkr cPp sdh tkp¡ (screening)

djku s dh lykg nh tkrh g]S rkfd ,ls s fdlh cPp s dh chekjh dh igpku tUe l s gh dh tk ldAs

fldy lsy chekjh yksxksa dks dbZ izdkj ls izHkkfor djrh gSA ,d gh ifjokj ds dqN yksxksa ij bldk de vlj iM+rk gS] tcfd nwljs xaHkhj :i ls izHkkfor gksrs gSaA blds dkj.k ges'kk Li"V ugha gks ikrs gSa] ysfdu fldy lsy chekjh dh xaHkhjrk dbZ ckrksa ls tqM+h gSA mnkgj.k ds fy, Hkwz.kh; gheksXyksfcu F(HbF), tks dbZ yksxksa esa o;Ld gksus rd curk jgrk gS] dk Lrj egÙoiw.kZ gSA lkekU;r% ghekXyksfcu dk Lrj thou ds igys lky ds var rd fxjdj yxHkx 1% jg tkrk gS vkSj iwjh o;Ld voLFkk rd blh Lrj ij cuk jgrk gS] ysfdu fldy lsy jDrkYirk (sickle cell anaemia) ls ihfM+r cPpksa esa lkekU; Lrjksa ls vfèkd ek=kk esa ghekXyksfcu F dk mRiknu yacs le; rd gksrk jgrk gS rFkk 7% ls vfèkd Lrj gksus ij fldfyax dh leL;k dks de le>k tkrk gS vkSj ,sls yksxksa esa fldy lsy chekjh (sickle cell disease) ls lacafèkr leL;k,a de gksrh gSaA HbF dk Lrj dqN [kkl nokbZ;ksa dk bLrseky djds c<+k;k tk ldrk gSA vHkh ;g jDr dksf'kdkvksa esa fldfyax dks de djus dk lcls vPNk rjhdk gSA Hkwz.kh; (fetal)

gheksXyksfcu dk lcls cM+k iQk;nk gS fd ;g fldy ugha djrk vkSj bldh ekStwnxh jDr dksf'kdkvksa dks fldfyax ls cpkrh gSA

Hkwz.kh; gheksXyksfcu dk mRiknu c<+kus ds fy, dbZ nokbZ;k¡ gSa_ buesa ls gkbMªkWDlh;wfj;k dk ifj.kke lcl s vk'kktud g S vkjS oreZ ku e as MkDW Vjk as }kjk ;gh nok yus s dh lykg nh tk jgh gAS bl ckr d s dkiQh lk{; (evidence) g aSfd gkbMkªDs lh ;fwj;k fldfyxa leL;kvk as (crisis) vkSj [kuw p<k+u sdh t:jrk ase asdeh ykrh gAS gkbMkªDs lh;fwj;k fldfyxa lys chekjh d slHkh jkfsx;k asd sfy, lgh ugh aHkh gk sldrh gAS ble asvfLFk&eTtk (bone marrow) dh lfØ;rk (activity)e asdeh yku s dh {kerk g]S ftll s lØa e.k dk [krjk c< + tkrk gAS bl nok dk bLres ky mu jkfsx;k as d s fy, ugha

gksus ds dkj.k fldy lsy ,uhfe;k

fldy lsy chekjh ds izcaèku ds lacaèk esa fodkl

gkbMªkWDlh;wfj;k (hydroxyurea)

17

HLA

D B C A

fd;k tkuk pkfg,] ftuds xHkZorh gksus dh laHkkouk gks ;k ftUgsa mipkj ds funsZ'kksa dk ikyu djus esa dfBukbZ gksA

lrdZ fujarj dk;Zokgh (follow-up) dh t:jr gksrh gS vkSj blds fy, fu;fer :i ls Dyhfud tkuk gksrk gSA ;g tku ysuk t:jh gS fd gkbMªksDlh;wfj;k flfdy lsy chekjh dk LFkk;h bykt ugha gSA fldfyax leL;k dh jksdFkke ;k bls de djus dk ;g ,d vljdkjd mipkj gS] ysfdu bldk vlj rHkh rd jgrk gS] tc rd O;fDr nok ysrk jgrk gSA

fiQygky fldy lsy chekjh dk ;g ,d ek=k LFkk;h bykt gSA BMT esa fdlh leku (matched) fj'rsnkj ;k nkrk dh lkekU; vfLFk&eTtk ysdj fldy lsy chekjh ls ihfM+r O;fDr esa yxk fn;k tkrk gSA ;g rHkh fd;k tkrk gS] tc og fldy yky jDr dksf'kdk,¡ iSnk dj jgh viuh vfLFk&eTtk dks gVkus ds fy, 'kfDr'kkyh nokb;ksa dk mipkj ys pqds gksrs gSaA gkykafd fldy lsy chekjh ds dbZ jksfx;ksa ds fy, bl mipkj dk liQyrkiwoZd bLrseky fd;k x;k gS] fiQj Hkh dbZ leL;k,¡ gSaA bl mipkj dk lcls T;knk ykHk rc gksrk gS] tc Hkfo"; esa laHkkfor fdlh izdkj dh leL;k ds iSnk gksus ls igys gh fdlh leku (matched) HkkbZ ;k cgu dk bLrseky djds ;g mipkj fd;k tk,A pw¡fd fldy lsy chekjh dh rhozrk ifjorZu'khy gks ldrh gS] blfy, bl ckr dk irk fd, cxSj fd fdls ykHk gksxk vkSj fdlesa xaHkhj leL;k,¡ iSnk gks tk,¡xh] BMT tSls vR;ar tksf[ke okys mipkj dks lgh Bgjkuk eqf'dy gksrk gS] D;ksafd blesa dqN dh ekSr Hkh gks ldrh gS vkSj dqN yacs le; rd jgus okyh leL;kvksa ds lkFk gh thfor jg ldrs gSaaA ,d tk¡p] tks efLr"d esa jDr ds cgko dh eki djrh gS (transcranial doppler), ,sls jksfx;ksa dh igpku dj ldrk gS] ftuesa vk?kkr (stroke) gksus dk [krjk gks vkSj blfy, ,sls jksxh bl mipkj ds fy, lgh mEehnokj gks ldrs gSaA izR;sd vyx&vyx ekeys esa] izR;kjksi.k (transplantation) ls gksus okys ykHk vkSj [krjs ij fopkj dj ysuk pkfg,A

vfLFk&eTtk iRz;kjkis .k (Bone marrow transplant) (BMT)

fldy lsy18

HLA-VkbZfixa

fldy lsy

pw¡fd b-FkSyklhfe;k ds ekeys esa leku vfLFk&eTtk (bone

marrow) okys fj'rsnkj dks <wa<uk vDlj eqf'dy gksrk gS vkSj blfy, bl fofèk dk bLrseky dqN jksfx;ksa ij gh fd;k tk ldrk gSA bl mipkj dh liQyrk vkSj leL;kvksa ls eqDr thou dh njsa ,d tSlh ugha gksrh vkSj ;g u dsoy jksfx;ksa dh BMT ls igys dh voLFkk ij] cfYd BMT dsaæ

dh xq.koÙkk vkSj fo'ks"kKrk ij Hkh fuHkZj djrh gSA

Hkfo"; esa] ;g laHkkouk gS fd [kjkc thu dks thu&fpfdRlk ds }kjk lkekU; thu ls cnyk tk

ldrk gSA gky ds o"kks± esa] bl {ks=k ds 'kksèk (research) esa egÙoiw.kZ mUufr gqbZ gS] ysfdu vafre

:i ls jksx&eqfDr (cure) ds fy, bldk bLrseky euq"; ij djus dh fn'kk esa vHkh dkiQh dke

djuk ckdh gSA bu fodklksa ds ckjs esa vkSj irk yxkus ds fy, vius lykgdkj (counselor) ;k

MkWDVj ls ckr djsaA

fldy lsy chekjh ds lkFk iSnk gq, cPpksa esa dksbZ Li"V y{k.k ugha fn[kkbZ nsrs gSaA vxj ml ns'k

esa] tgk¡ jksxh dk ifjokj jgrk gS] uotkrksa dh tk¡p (neo-natal screening) & dk;ZØe miyCèk

gks] rks f'k'kq dh chekjh dh igpku dh tk ldrh gSA [kkldj] bldh rc vkSj vf/d t:jr

gks tkrh gS] tc ekrk&firk dh tk¡p ugha dh xbZ gks] dksbZ tUe ls igys tk¡p ugha dh xbZ gks]

vkSj ifjokj esa dksbZ vU; izHkkfor cPpk u gksA

fldy lsy chekjh dks cgqr izkjafHkd voLFkk esa igpku djuk laHko gSA ,slk fldy lsy

chekjh ds y{k.k dh igpku djus fd igys crkbZ xbZ vklku] ysfdu [kkl yscksjsVjh tk¡pksa tSls

bysDVªksiQksjsfll] IEF vkSj HPLC ds ekè;e ls fd;k tk ldrk gSA

thu&fpfdRlk (Gene Therapy)

19

fldy lsy chekjh dh igpku (diagnosis) dSls dh tkrh gS\

Økl eSfpax tk¡p

vfLFk eTtk dk mipkj

nkrk izkIrdrkZ

T H

BMT dh izdzh;k

fldy lsy20

fldy lsy chekjh dk irk yxkus ds fy, vkerkSj ij bLrseky fd, tkus okys rjhds

(i)jDr&foKku lacaèkh rkfydk,¡ &

(ii)jDr fiQYe (blood film) vkSj yky jDr dksf'kdk (RBC) vkÑfr foKku (morphology)

&

(iii)gheksXyksfcu bysDVªksiQksjsfll&

(iv)vuqokaf'kd tk¡p (genetic tests)&

yky jDr dksf'kdk dkmaVj (red blood cell counter)

}kjk] tks ,d bysDVªkWfud midj.k gS] yky jDr dksf'kdkvksa ds vkdkj vkSj okWY;we (volume) rFkk muesa ekStwn gheksXyksfcu dh ek=kk dks ekirk gSA

fldy lsy chekjh ds jksfx;ksa esa vkerkSj ij ikbZ tkus okyh dqN jDr&foKku lacaèkh rkfydk,¡ uhps nh xbZ gSa &

jsat] (vkSlr&Mean)Hb g/dl 4.1-13 (8)MCV fL 70-90 (87)MCHC g/dl 27-41 (33)

ekbØksLdksi ls ns[kus ij vfèkdka'k yky jDr dksf'kdkvksa dk vkdkj vlkekU; fn[kkbZ nsrk gS% eq[; :i ls fldy&vkdkj dh yky jDr dksf'kdk,¡ (lkjh dksf'kdkvksa dk yxHkx 10 izfr'kr) vkSj vyx&vyx vkdkj (marked poikilocytosis) ,oa fofHkUu vkdkj (anisocytosis) dsA

;g ,d ,slh izfØ;k] tks gheksXyksfcu v.kq ;kfu gheksXyksfcu&A (HbA)] gheksXyksfcu&A2 (HbA2) vkSj ghekXyksfcu&F (HbF) cukus okyh fofHkUu izksVhuksa dks vyx djrh gSA vxj gheksXyksfcu s dk Lrj lkekU; ls vfèkd gksrk gS] tks 20&90 izfr'kr ds chp gks ldrk gS] rks ;g fldy lsy chekjh dh igpku n'kkZrk gSA gheksXyksfcu&A2] tks vDlj lkekU; o;Ld gheksXyksfcu dk 3 izfr'kr rd gksrk gS] dh jsat 1-5 ls 3-6 izfr'kr rd vkSj HbF dh jsat 5 ls 10 izfr'kr (dHkh&dHkkj 40 izfr'kr rd) rd gks ldrh gSA bu ekiksa esa varj bl ij fuHkZj djrk gS fd dgha HbS/S rks ugha gS ;k lkFk&lkFk (combinations) b vkSj a-FkSyklhfe;k Hkh rks ugha gSaA

;g DNA tk¡pksa dk bLrseky djrs gq, igpku dh iqf"V djus vkSj@;k T;knk fof'k"V tkudkjh gkfly djus ds fo'ks"k rjhds gSaA mnkgj.k ds fy,] ,slh tk¡pksa ls chekjh dh voLFkk (conditon) iSnk djus okys mRifjorZuksa (mutations) dh igpku dh tkrh gS vkSj igpku dh iqf"V djus ds vykok] chekjh dh xaHkhjrk dks n'kkZus okyh tkudkjh Hkh izkIr gksrh gSA

fldy lsy

fldy lsy chekjh dks c<+us ls jksdus vkSj fdlh xaHkhj leL;k ds 'kh?kz mipkj ds fy, bl

chekjh dh 'kq:vkrh vkSj fcYdqy lgh&lgh igpku dh iqf"V cgqr egÙoiw.kZ gSA

dksbZ vtUek cPpk vuqokaf'kd (genetic) n'kk esa gS ;k ugha]bldk irk djus ds fy, tk¡p djus

ds dbZ rjhds gSaA bu tk¡pksa dks tUe&iwoZ igpku (pre-natal diagnosis-PND) dgk tkrk gSA

bu tk¡pksa ls ;g irk py tkrk gS fd vkids cPps dks vkils vkSj vkids lkFkh ls fdl izdkj

ds gheksXyksfcu dh vkuqokaf'kd izkfIr gqbZ gSA xHkZorh gksus ls igys bu fodYiksa ij fopkj dj

ysuk vPNk gS] blls vki tk¡pksa ds ckjs esa igys gh gj laHko tkudkjh izkIr dj ldsaxsA

,ehfu;kslsaVsfVl xHkZ dky ds 15 lIrkg ds ckn xHkkZoLFkk dh nwljh frekgh esa dh tkrh gSA vYVªklkmaM ds fn'kk&funsZ'k dk bLrseky djrs gq, dksbZ izf'kf{kr izlwfr fo'ks"kK (obstetrician) ekrk ds isV esa ,d iryh lwbZ Mkydj FkksM+k lk ,efu;ksfVd nzo] ftlesa Hkzw.k dh dksf'kdk,¡ (fetal cells) gksrh gSa] ckgj fudyrk gSA blds ckn] yscksjsVjh esa bldk ijh{k.k djds ;g irk fd;k tkrk gS fd Hkzw.k fldy lsy chekjh ls izHkkfor gS ;k ughaA

bl tkap dh otg ls ekrk ;k Hkzw.k dks gksus okys tksf[ke egRoiw.kZ ugha gSa- blls xHkZikr (miscarriage) dk FkksM+k tkssf[ke jgrk gS- tks 1%200&1%400(0-5» ls de) ekeyksa esa gh gksrk gS- gkykafd izlwfr fo'ks"kK ds lkFk ppkZ djds bl tkap ds lHkh igyqvksa dks le>k tk ldrk gSA

vYVªklkmaM dk bLrseky djrs gq, Hkzw.k ds vEcfydy dkWMZ (umbilical cord) esa] isV ds jkLrs ls ,d ckjhd lwbZ Mkyh tkrh gS] ftlds ekè;e ls [kwu dh ,d NksVh ek=kk yh tkrh gSA Hkzw.k ds jDr (fetal blood) dks vyx djds yscksjsVjh esa bldk ijh{k.k fd;k tkrk gS- T;knkrj ekeyksa esa dq'ky gkFkksa }kjk igys iz;kl esa gh 100 izfr'kr 'kq¼ Hkwz.k dksf'kdk,¡ izkIr gks tkrh gSaaA 'kq¼ Hkzw.k jDr izkIr djus esa foiQyrk ds dkj.kksa vkSj bl izfdz;k ds nkSjku vU; laHkkfor tksf[keksa ds ckjs esa tUe ls igys dh tkap esa [kkl ;ksX;rk j[kuss okys izlwfr fo'ks"kK gh foLrkj ls le>k ldrs gSa- dkWMksZlsaVsfll xHkkZoLFkk ds 18

(i) ,ehfu;kslsaVsfVl (Amniocentesis)

(ii) dkMW klZs Vas fsll (Hk.wz k d sjDr dk ueuw k yus k) (cordocentesis)

21

D;k fdlh vtUe s cPp s dh xHkk'Z k; e as tkp¡ dh tk ldrh g\S

,fEu;kslsaVsfVldkWMksZlsaVsfll

fldy lsy22

lIrkg ckn fd;k tkrk gS- blesa xHkZikr (miscarriage) (1&2»)] jDr&L=kko (bleeding)] laØe.k vkSj ,eksfu;ksfVd nzo dk fjlko tSls tksf[ke 'kkfey gksrs gS- ekWfyD;wyj rjhdksa ls le; jgrs [kkl igpku us yxHkx iwjh rjg dkWMksZlsaVsfll dh txg ys yh gSA dkWMksZlsaVsfll dh lykg vktdy dsoy mu xHkZorh efgykvksa dks nh tkrh gSa] ftUgksaus nsj ls fjiksZV dh gksA

lh oh ,l Hkzw.k esa gheksXyksfcu laca/h chekfj;ksa dk irk yxkus dk ,d rjhdk gS- ;g ,fefu;kslsaVsfll ls igys xHkkZ/kj.k ds yxHkx 10&11 gÝrs esa fd;k tk ldrk gS- blesa izlwfr fo'ks"kK vYVªklkamM dh lgk;rk ls ¶dkWfjvksfud foykbZ ;kfu Hkzw.k ds leku gh thu&laca/h tkudkjh j[kus okyh dksf'kdk,¡ ] tks ckn esa IyslsaVk dk :i ys ysrh gSa] dk FkksM+k lk uewuk ckgj fudky ysrh gSA

;s dksf'kdk,¡ ek¡ ds isV ds jkLrs (transabdomial) ,d iryh lqbZ ;k ;ksfu ds jkLrs (transcervical) ,d iryk dSFksVj Mkydj ckgj fudkyh tkrh gSaA blds ckn dksf'kdkvksa dk fo'ys"k.k (analysis) djds irk (diagnosis) yxk;k tkrk gSA igys crkbZ xbZ izfdz;kvksa ds eqdkcys blesa xHkZikr (miscarriage) dk FkksM+k (2» rd vkSj vxj izlwfr fo'ks"kK vuqHkoh gks] rks blls Hkh cgqr de) tksf[ke jgrk gS vkSj blls Hkh FkksM+k de tksf[ke jDr&Ïko ;k ladze.k dk jgrk gSA blds vykok cgqr FkksM+k tksf[ke vax dk :i fcxM+us (limb abnormalities) dk jgrk gS] gkyakfd vxj lh oh ,l 10 lIrkg ckn fd;k tkrk gS rks bldh laHkkouk yxHkx ugha ds cjkcj gks tkrh gSA

tUe ls igys chekjh dk irk yxkus ds vU; rjhdksa dh gh rjg] bl izfdzzz;k dk bLrseky djrs gq, izlwfr fo'ks"kK }kjk tksM+ks dks laHkkfor tksf[keksa vkSj iQk;nksa dh tkudkjh nh tkrh gSA

,fefu;kslsaVsfll vkSj lh oh ,l nksuksa Mh ,u , (DNA) ij vk/kfjr gSa] ftUgsa vkuqokaf'kd tk¡p ds :i esa Hkh tkuk tkrk gS vkSj blesa ekrk&firk esa ekStwn ifjoZru (mutation) dh igpku dh tkrh gSaA bl rjg dh tk¡p esa ekrk&firk ls vkuqokaf'kd :i ls feyh chekfj;ksa dk irk yxkus

(iii) dkfWjvkfsud foyl liaS fyxa (lh oh ,l) (chorionic villus sampling)

mijksDr rjhdksa ls uewus izkIr djus ds ckn Hkzw.k dh igpku dSls dh tkrh gSA

lh oh ,l

fldy lsy 23

ds fy, lcls lVhd lk/uksa dk bLrseky gksrk gSA gkykafd] tSlk fd fdlh Hkh tk¡p ds lkFk gks ldrk gS] blesa FkksM+h laHkkouk yscksjsVjh esa gqbZ Hkwy (error) dh Hkh jgrh gS] ysfdu ,slk cgqr de gh gksrk gSA

lh oh ,l ds ekeys esa] elyu iz;ksx'kkyk&foKkfud dkWfjvksfud foykbZ dh dksf'kdkvksa ds Mh,u, esa ikbZ tkus okyh gheksXyksfcu thuksa dk vè;;u ;g tkuus ds fy, djrs gSa fd cPps dh thu vizHkkfor gS vkSj og LoLFk jgsxk vkSj dgha og fldy lsy dk laokgd rks ugha gksxk ;k dgha mldh gheksxyksfcu thuksa ij vlj rks ugha gksxk vkSj og fldy lsy chekjh+ ls ihfM+r rks ugha gks tk,xkA

vxj tk¡p ls ;g irk pyrk gS fd cPpk izHkkfor gS] rks ekrk&firk ;g leHkQrs gq, fd mlds fy, thou Hkj mipkj dh t:jr gksxh] xHkZ dks tkjh j[kus dk iQSlyk ys ldrs gSa ;k igys dh xbZ ppkZ ds vuqlkj xHkZ dks lekIr djus dk iQSlyk ys ldrs gSaA gkykafd vxj xHkZ dks lekIr djus dk iQSlyk fy;k x;k gks] rks xHkZkoLFkk dh fLFkfr dks ns[krs gq, ,slk nks rjhdksa ls fd;k tk ldrk gSA

vxj efgyk 14 lIrkg ls de dh xHkZorh gks] rks 'kq:vkr esa xHkZikr djk;k tk ldrk gS] tksM+s dks bl laca/ esa lHkh tkudkfj;ka nh tkuh pkfg, vkSj mudh vka'kdkvksa vkSj fparkvksa dks mfpr ijke'kZ nsdj nwj djuk pkfg,A mUgsa izlwfr fo'ks"kK vkSj@;k lykgdkj }kjk ;g crk;k tkuk pkfg, fd xHkZ [kRe djus ls muds fiQj cPpk iSnk djus dh laHkkouk esa dksbZ deh ugha vk,xh vkSj vxj dksbZ tksf[keiw.kZ tksM+k nksckjk xHkZ /kj.k djrk gS] rks izHkkfor cPpk iSnk djus dh laHkkouk mruh gh gksxhA

blds vykok] vxj tksM+k (ifr&iRuh) tkuuk pkgs] rks lkiQ rkSj ls ;g crk;k tkuk pkfg, fd vxyh ckj xHkZorh gksus ij xHkZ esa iy jgk cPpk fldy lsy chekjh ls izHkkfor gS ;k ugha] ;g tkuus ds fy, tUe ls igys nksckjk tk¡p dh t:jr gksxh vkSj blds fy, fcYdqy ogh izfØ;k,a¡ viukbZ tk,axh rFkk iQk;ns ,oa tksf[ke Hkh leku gksxsaA

14 lIrkg ls vf/d dh xHkZorh efgyk ds xHkZ dks [kRe dsus ds fy, gkeksZu (izksLVXySafMu) nsdj xHkZorh efgyk esa izlo (delivery) dh fLFkfr iSnk dh tkrh gSA ;g izlo dbZ ?kaVksa rd py ldrk gS] tks izkjaHk esa xHkZ lekIr djus dh rqyuk esa] efgyk dks T;knk ekufld rdyhiQ

xHkZ lekIr djuk

izkajfHkd voLFkk esa xHkZ lekIr djuk

nsj ls xHkZ lekIr djuk

fldy lsy24

nsrk gSA xHkZ lekIr djus esa gqbZ nsjh ls efgyk ds nksckjk xHkZorh gksus dh laHkkouk ij dksbZ vlj ugha iM+rk] rFkk lHkh tkudkfj;ka vkSj blls lacaf/r lokyksa ds tokc izlwfr fo'ks"kK ls yh tk ldrh gSaA

tUe ls igys gksus okyh jksx dh igpku vkSj xHkZ lekIr djus ds rjhds gj tksf[keiw.kZ tksM+s ;k dqN leqnk;ksa dks vius /kfeZd ,oa lkaLdfrd pyuksa ds dkj.k Lohdk;Z ugha Hkh gks ldrs gSA

cnfdLerh ls] tUe&iwoZ igpku vkSj xHkZ dks lekIr fd, fcuk dsoy laokgdksa dh igpku vkSj LØhfuax ds lgkjs bldh liQy vkSj izHkkoh jksdFkke ugha dh tk ldrhA

n[ky vkSj euksoSKkfud ncko dks de djus vkSj dqN leqnk;ksa ,oa [kkl tksM+ks ds chp bUgsa Lohdk;Z cukus ds fy, dqN vU; rjhds fodflr fd, x, gSa] tcfd dqN rjhdksa ij vHkh 'kks/ py jgk gSA mnkjg.k ds fy,] ek¡ ds jDr esa ?kweus okyh (circulating)

Hkzw.k&dksf'kdkvksa dk fo'ys"k.k ,d ,slh tk¡p gS] ftlij fiNys n'kd esa] egRoiw.kZ 'kks/ djus ij è;ku dsfnzar fd;k x;k gSA gkykafd bldh viuh lhek,¡ gSa] vkSj vkt dh rkjh[k esa] ;g Hkjkslsean tUe&iwoZ tk¡p dh txg ugha ys ldrk gSA

izh&bEIykaVs'ku tsusfVd Mk;Xuksfll (ih-th-Mh-) (pre-implantation genetic diagnosis) ,d ubZ rduhd gS] ftlesa VsLV V~;wc (in-vitro) esa fu"kspu (fertilisation) vkSj Mh ,u , izkS|ksfxdh (technology) dk bLrseky fd;k tkrk gSA blesa 'kq:vkrh Hkzw.k (early embryo) ls dqN dksf'kdk,¡ vFkok laokgd ekrk ls fy, x, gheksXyksfcu&lacaèkh chekfj;ksa ls eqDr vaMk.kq ysdj yscksjsVjh esa fu"ksfpr (fertilize) fd;k tkrk gS vkSj fiQj xHkkZ'k; esa vkjksfir dj fn;k tkrk gSA

PGD mu O;fDrvksa esa T;knk Lohdk;Z gks ldrk gS] tks xHkZ lekIr djus ds f[kykiQ gSa vkSj bl izdkj bldk O;kid bLrseky fd;k tk ldrk gSA ;g rduhd vHkh Hkh eagxh gS vkSj blesa csgrj izkS|ksfxdh dh t:jr iM+rh gS] ysfdu yksx vc bls cgqr vfèkd Lohdkj dj jgs gSa vkSj bldk bLrseky dj jgs gSaA xHkkZ'k; esa tk¡p fd, x, Hkzw.k dks vkjksfir djus ls ges'kk xHkZ ugha Bgjrk (dsoy yxHkx 20-30% esa) vkSj dbZ yksx 2 ;k 3 Hkzw.k vkjksfir djuk ilan djrs gSa] ftlds ifj.kkeLo:i dbZ xHkZ Bgj tkrs gSaA

vU; rjhds%

fldy lsy

,slk ekuk tkrk gS fd fldy lsy gheksXyksfcu :ikarj dh 'kq:vkr vizQhdk esa gqbZ] tgk¡ ;g lcls T;knk ik;k tkrk gS] tcfd Hkkjr dks ,d vfrfjDr ewy&LFkku le>k tkrk gSA bu {ks=kksa ls yksxksa ds ,d ns'k ls nwljs ns'k tkus&vkus (migration) ds dkj.k ;g thu lalkj ds yxHkx lHkh {ks=kksa esa igq¡p x;k gSA

,slk ekuk tkrk gS vkSj ghekXyksfcu lacaèkh dqN izeq[k chekfj;ksa ds lacaèk esa oSKkfud :i ls fn[kk;k x;k gS fd lalkj ds bu {ks=kksa] tgk¡ gheksXyksfcu thu ewy :i ls ikbZ xbZ vkSj tks eysfj;k ds fo'ks"k {ks=k (endemic) Fks] esa ekuo thou&lajpuk dh thu ftls tho foKku dh Hkk"kk esa thu&lacaèkh lek;kstu (adjustment) ;k ,d mRifjorZu (mutation) dgk tkrk gS& esa ifjorZu vk;kA bl cnyko ds dkj.k yky jDr dksf'kdkvksa ds okrkoj.k (environment)

esa egÙoiw.kZ ifjorZu gq,] ftlus eysfj;k ds ijthfo;ksa (Parasites) dks c<+us vkSj iuius ls jksd fn;k vkSj bl izdkj bu yksxksa dks] muds eqdkcys ftuesa ;g thu&lacaèkh ifjorZu ugha gqvk] ftUnk jgus dk iQk;nk fey x;kA bl izdkj] FkSyklhfe;k y{k.kksa (a vkSj b) ds laokgdksa vkSj vU; gheksXyksfcu lacaèkh chekfj;ksa] tSls & fldy lsy ds laokgdksa esa] LoLFk O;fDr;ksa ds eqdkcys eysfj;k ls viuk cPkko djus dh csgrj {kerk FkhA bl izdkj] lalkj ds eysfj;k ds fo'ks"k {ks=kksa esa lky&nj&lky laokgdksa dh la[;k esa dkiQh of¼ gks xbZ] D;ksafd eysfj;k laØe.k ds dkj.k LoLFk O;fDr;ksa dh cM+h la[;k esa eR;q gks xbZA

yksxksa ds ,d ns'k ls nwljs ns'k tkus vkSj vyx&vyx tkfr;ksa ds chp fookg ds dkj.k FkSyklhfe;k vkSj fldy lsy mÙkjh ;wjksi vkSj vU; ns'kksa] tgk¡ igys FkSyklhfe;k ugha Fkh] lfgr nqfu;k ds yxHkx lHkh ns'kksa esa iQSy pqdh gSA

25

fldy lsy vkSj gheksXyksfcu lacaèkh vU; chekfj;k¡ fdu txgksa ij ikbZ tkrh gSa\

fu;a=k.k dk;ZØe LFkkfir gksus ls

igys eysfj;k ls izHkkfor ns'k

eysfj;k

gheksXyksfcu&lacaèkh chekfj;ksa dk

fo'oO;kih uD'kk

"Guidlines to the clinicalManagement of Thalassaemia"2000

fldy lsy26

gky dh egkekjh lacaèkh tkudkfj;ksa ds eqrkfcd fo'o&tula[;k dk yxHkx 7 izfr'kr izHkkfor gheksXyksfcu dk laokgd gS vkSj izfro"kZ 3]00]000 ls 5]00]000 izHkkfor cPps tUe ys jgs gSaA buesa yxHkx 80 izfr'kr fldy lsy chekjh ls ihfM+r gSa vkSj vfèkdka'k fodkl'khy ns'kksa] [kkldj vizQhdk esa jgrs gSaA vkt Hkh] fodkl'khy ns'kksa esa iSnk gq, izHkkfor cPpksa dh chekjh dk irk ugha yx ikus ;k xyr igpku (mis-diagnosis) ds dkj.k t:jr ds fglkc ls mipkj ugha fey ikus ;k fcYdqy gh mipkj ugha fey ikus ds dkj.k eR;q gks jgh gS ("World Bank 2006, report of a joint WHO - March of Dimes meeting 2006)

fo'o LokLF; laxBu vkSj TIF tSls jksfx;ksa ds laxBu izHkkfor cPpksa dh izfro"kZ gksus okyh tUe&nj esa deh ykus vkSj nqfu;kHkj ds gheksXyksfcu&lacaèkh jksfx;ksa ds thou dh j{kk vkSj xq.koÙkk esa lqèkkj ykus ds mís'; ls izHkkodkjh jk"Vªh; fu;a=k.k dk;ZØeksa dks c<+kok nsus ds dk;Z esa jk"Vªh; LokLF; izkfèkdj.kksa dk lg;ksx nsus ds fy, feytqy dj dk;Z djrs gSaA

FkSyslhfe;k varjkZ"Vªh; QsMjs'ku

ds izdk'ku

fldy lsy 27

1. "Blood Safety Kit" (1999)

2. "Guidelines to the clinical Management of Thalassaemia" 2000

3. "Compliance to Iron Chelation therapy with Desferrioxamine" 2000 - reprinted 2005

4. "About Thalassaemia" -2003

5. "Prevention of Thalassaemias and other Haemoglobinopathies"Volume I (2003)

6. "Prevention of Thalassaemias and other Haemoglobinopathies"Volume II (2005)

7. "Patients' Rights" 2007

8. "A guide to the establishment and promotion of non-government patients/parents' organization" 2007

9. Update version of the book "Guidelines to the Clinical Management of thalassaemia" May 2007

10. Children's dialogue : "Thalassaemia and Me" 2007

11. Booklet One: About b -thalassaemia 2007

12. Booklet Two: About a -thalassaemia 2007

13. Booklet Three: "About Sickle Cell Disease" 2007

14. TIF's Educational Folder 2007

[ In English]

[ Translated into 6 languages ]

[ Translated into 4 languages ]

[ Translated into 11 languages ]

[ Translated into 2 languages ]

[ Translated into English ]

[ In English ]

[ In English ]

[ In English ]

[ In English ]

VhvkbZ,Qls lEidZdSls djsa

fldy lsy28

Thalassaemia International Faderation

P.O. Box 28807, 2083 Nicosia, Cyprus

Tel.: 00357

Fax: 00357

E-mail:

Web-site:

22319129/ 22319134

22314552

thalassaemia@cytanet.com.cy

www.thalassaemia.org.cy

Published by the:

Thalassaemia

International Faderation

No. 13

ISBN: 978-9963-623-47-1

izdk'kd%

FkSyklhfe;k varjkZ"Vªh; QsMjs'ku la[;k% 13vkbZ,lch,u% 978&9963&623&47&1