Cases in Hematopathology

8/12/2019 Cases in Hematopathology

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CASEDISCUSSIONS

IN

HAEMATOPATHOLOGY

KGayathriIAPP.Pune.May4th2014


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Infant4months,withprogressiveanemiaandjaundice.

Received BloodTransfusionfrommother(70ml)at7daysageforHb7.5g/dl.

Case:1

gaya3k


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Thereisamorphologiccluetodiagnosis. What wouldyoudotoestablishdiagnosis?


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BABY KEERTHI PRIYA OSMOTIC FRAGILITY H -

064\03

0102030

405060708090

100

0 1 2 3 4 5 6 7 8

gm\L NaCl

%

OFLYSIS

T pre incu.

C pre incu

Tpost incu

Cpost incu

FragilitycurveshowssignificantshiftindicatingearlyRBClysisingradedsolutionsofbufferedsaline.

Willthisgivethediagnosis?


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Md. RAFI OSMOTIC FRAGILITY H 563 \ O3

0102030405060708090

100

0 1 2 3 4 5 6 7 8 9 10

gm /L NaC l

%oflysis T pre incu.

C pre incu

Tpost incu

Cpost incu

Red cell lysis at pH 7.4, 20C in g/L NaCl

Starts at : C 5.0 T 8.0Complete at: C 3.0 T 6.0MOF : C 4.5 T 7.0

Comments :Fragility Curve shows increase red cell fragility.


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Whatdoesthistelluswithregardtodiagnosis?

Whatimportantmessagecanwesharewithlaypersons,basedonthisfinding?


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M d. RA FI OSMOT IC FR AGILITY H 563 \ O3

0

102030405060708090

100

0 1 2 3 4 5 6 7 8 9 10

g m /L N aC l

%oflysis T p re incu.

C p re incu

Tp ost incu

Cp ost incu

Osmotic Fragility

FragilitycurveshowssignificantshiftindicatingearlyRBClysisingradedsolutionsofbufferedsaline.


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BABY KEERTHI PRIYA OSMOTIC FRAGILITY H

064\03

0102030

405060708090

100

0 1 2 3 4 5 6 7 8

gm\L NaCl

%

OFLYSIS

T pre incu.

C pre incu

Tpost incu

Cpost incu

Md. RAFI OSMOTIC FRAGILITY H 563 \ O3

0102030405060708090100

0 1 2 3 4 5 6 7 8 9 10

g m /L N aC l

%oflysis T pre incu.

C pre incu

Tpost incu

Cpost incu


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Whatdoesthistelluswithregardtodiagnosis?

Sample standing next to the cell counter


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Samplestandingnexttothecellcounter


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Whatimportantmessagecanwesharewithlaypersons,basedonthisfinding?


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Girl12years,detectedwithtransfusion

dependantanemiasincetheageof4years.

Onexaminationshortandsmallorage;no

lymphadenopathyororganomegaly.

Case:2

a a3k


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Case02Girl12years(si).BMB

Receivedbloodtransfusionssincetheageof4years Onexamination:

shortinstatureandsmallforherage nopalpablelymphnodes

noorganomegaly

hyperpigmentationperioral

Alertandintelligent

Clinicaldiagnosis?


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Hb5.6g/dl;TLC3600/cumm;Platelets80000/cumm

Peripheralsmear:

RBCS:NN&macrocytic

WBCs:Relativelymphocytosis

Platelets:Decreased.Nogiantforms

Reticulocytecount:


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Whatareyourobservations?Whatnext?


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Thereisamorphologicdiagnosis.Isthereanymoreinformationthatcanmakeadifferenceinthemanagement?


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Dicentric Telomere

Chromosomal aberrations seen in

in the current case & comparison with literature


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25%riskofFAin

everychild


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Whymustweestablishtheetiologicdiagnosis?

WhatistherecommendedmanagementforFA?

Whatisourrolebeyondestablishingdiagnosis?


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Cancers

Transformation>30%

Hematologicalmalignancies.

OthercancersOralcavity,breastandgynecologic tumors

ScreeningFamily

Chromosomefragility. HLAtyping


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Girl9years,admittedwithintermittentfever

of1year.Onexaminationwithpallorandmildicterus;

hepatosplenomegaly.Hb4.7g/dl;TLC2300/

cumm;Platelets20000/cumm.

Case:3

gaya3k


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Case03Girl9years(jy).BMA

IntermittentfeverXabout4months

Onexamination:

sicklooking

pallor

mildicterushepatosplenomegaly

Hb4.7g/dl;TLC2300/cumm;Plt20000/cumm


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Ismorphologicdiagnosisadequateforthemanagementofthischild?

HLH Di ti G id li


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HLHDiagnosticGuidelines

InternationalHLHstudygroup2004

Either1or2offollowing

1) MoleculardiagnosisconsistentwithHLH

2) Diagnosticcriteriafulfilled(5outof8)

Diagnosticcriteria:

ClinicalFever,Splenomegaly Lab

Cytopenia(Minimum

Bicytopenia) TriglyceridesorFibrinogen

MorphologicevidenceofHaemophagocytosisinBMA,

Lymphnode,Liver,Splenicpulp

NewCriteria

Ferrin, SolubleCD25,NKcellacvity


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Courseofillness

Receivedimmunosuppresiontherapy

Respondedinitially (steroids+cyclosporin)

Succumbedhoweverafter4months

Planearlytransplantinabsenceofresponse

Case:4


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Boy8years,withjointpains,fever.

Onexaminationsmallbuilt,palewithmild

icterus

gaya3k


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Simple techniquesCan yield remarkableresults


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Hb type Fa Mo Sib Pro

F 20.6 - 1.0 25.4

A0 2.5 48.5 48.1 2.6

A2 1.8 3.1 3.4 2.0

S 74.8 43.3 42.6 69.6

C/o painful joints.

Extended Family screen:


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y

Hb type 13M 32M 15F 9M

F - - - -

A0 89.0 88.2 88.1 51.7

A2 3.1 2.9 3.0 4.0

S - - - 39.1

-------------------------------------------

Relevant history:

Family with H/o consanguinity

With 8yrM - Sickle Homozygous

Sibs of both parents & progeny,

screened


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WhymustweevaluatefurtheronceSicklecellsareseen?

Whatisourrolebeyondestablishingdiagnosis?


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Parentsof6y.Fwithjaundiceandjointpains,

detectedwithsicklecells


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Roleincommunityawarenessandprevention

Boy5years,withcomplaintofpassingbloodinCase:5


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y y , p p g

urinesincedaypriortopresentation.Also

yelloweyessincethen,withpainabdomen

andvomiting.Hadsimilarepisodeatage3andreceivedbloodtransfusion.Remainedwell

betweentheseepisodes

gaya3k


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Whatdoesthemorphologysuggest?

C 05 B 5 ( ) PS


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Case05Boy5years(ma).PS

C/Opassingbloodinurinedayprior

Yellownessofeyes

Painabdomenandvomiting

Similarepisodeatage3years

Receivedbloodtransfusion Remainedwellintheinterval

Clinicaldiagnosis?

Peripheral blood


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Peripheralblood

Hb7.0g/dl;HCT16.4%;RBC2.45mill/cumm;MCV

67fl;MCH28.5pg;MCHC42.5g/dl;RDW16.2%

TLC20100/cumm;Plt3.87lac/cumm


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Whatnext?Whatinvestigations?


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M5yrtreatedforfebrileillness

brought witholiguriaandhigh

coloredurine.

G6PDScreening:Enzymeassay

NoDeficiencynoted

PlasmaHb:39mg/l

UrineHaemosiderin: Negative

UrineHb:Positive

(28mg/l)

Comments:

Haematologicprofileisconsistentwith

Intravascular Hemolysis.

Other parameters


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Otherparameters

Reticulocytecount(corrected):15%

Sicklingtest:negative

DAT:negative;IAT:negative

SerumLDH:3825U/L

HbHPLC:HbF HbA2.5HbA079.1% G6PDenzymeassay:432u/10.12redcells

Whatnext?


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Whatiscriticalinestablishingdiagnosis?

Follow up


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Followup

RepeatHb(weeks):11.4g/dl

G6PDenzymeassay:142U/10.12redcells

Evaluationduringstableperiod

IfnotdiagnosedwithG6PDdeficiencyplanotherenzymeassaysPK

Casper is here to guide you


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Casperisheretoguideyou

Sample collection principles :


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* Vacutainer collection / Prepared vials(Children)

* Choice of Anticoagulant : Hemogram K3 EDTA

Coagulation parameters - Citrate


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Peripheral Smear Examination

Probably contributes more to the diagnosis of

Haematologic disorders, than any other single

laboratory parameter (Wintrobe)

What is the value of an investigation ??


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Life itself .

Cases in Hematopathology

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