Post on 08-Apr-2018
8/7/2019 Dr. Bushra Moiz
1/25
diagnosis of-thalassemia minor in
diagnosis of-thalassemia minor in
Dr Bushra MoizConsultant Hematologist & Assistant Professor
us ra.mo z a u.e u
8/7/2019 Dr. Bushra Moiz
2/25
HbA2, is globally the commonest chain.
Annals of hematology. 2002 Jul;81(7):386-8.
It was irst iscovere in 1958 in lac
community of Gulla James Island
8/7/2019 Dr. Bushra Moiz
3/25
that results from modification of globin
arginine at codon 16Hemoglobin. 2003 May;27(2):105-10.
Normal= GCCCTGTGGGGCAAAGTGAAC
Normal= GCCCTGTGGGGCAAAGTGAAC
NCBI Reference Sequence: NM_000519.3
NCBI Reference Sequence: NM_000519.3
8/7/2019 Dr. Bushra Moiz
4/25
HbA2 is in the detection of co-existing -
such individual might present with normal
thalassemia minor
HbA2+HbA2 >4.0% = beta thalassemia minor
Int J Lab Hematol. 2009 Jun;31(3):315-9.
8/7/2019 Dr. Bushra Moiz
5/25
Al aline electrop oresis
Iso-electric focusing Micro-column chromatography
Clin Chem Acta. 2001 Nov;313(1-2):187-94.
8/7/2019 Dr. Bushra Moiz
6/25
evaluate the prevalence of HbA2 and the-
Pakistani population.
The secondary objective was to determine
re erence ranges or iagnosis o t is variantby HPLC.
8/7/2019 Dr. Bushra Moiz
7/25
Place of study: clinical lab, AKUH
Demographic data : IT ema o og ca parame ers: ou er
HPLC: Variant -thalassemia short program
o- a a ora or es, ercu es, , Statistical analysis: SPSS version 16
8/7/2019 Dr. Bushra Moiz
8/25
S-window eaks RT=4.5
of 4.0%
.Beta thalassemia trait
8/7/2019 Dr. Bushra Moiz
9/25
Results
8/7/2019 Dr. Bushra Moiz
10/25
Various hemoglobinopathies seen
in 2006 (n=10186)
= .
.
HbA2'=27.4%
thal major=22.7%
.
HbA2'=27.4%
thal major=22.7%
HbS=2%
HbQ=1.1%
HbS=2%
HbQ=1.1%
HbD=1.0%HbD=1.0%
8/7/2019 Dr. Bushra Moiz
11/25
= -
Gender=90 males/79 females/23U
ge mean range = . . -
Age
8/7/2019 Dr. Bushra Moiz
12/25
= .
HbA2 1-2% = 63 (32.6%)
> = .
8/7/2019 Dr. Bushra Moiz
13/25
Analysis of 192 samples with HbA2 and
identification of 64 missed cases of -thalassemia minor during 2006
Retention
HbA2
Total
Cases
n (%)
Time
Range(min)
Mean
HbA2*
Range (%)Mean
SD
Cases with
HbA2 >3.5%
n (%)
Cases with
HbA2+HbA2>4.0%
n (%)
Possibly
missed -thal
n (%)
2% 6 (3.1) 4.56 0.06
. - .
3.67 1.05 3 (50) 6 (100) 3 (50)
All192(100)
4.32-4.62 1.0-7.041 105 64
. . . .
* Difference in HbA2 levels in three groups is statistically not significant
8/7/2019 Dr. Bushra Moiz
14/25
Simple heterozygous= 87 (45.3%)
HbA2 % 0.740.21 HbA2% 2.340.39
HbA2+HbA2% 3.080.37
= .
HbA2% 1.060.57
. . HbA2+HbA2% 5.152.40
omozygous=0
8/7/2019 Dr. Bushra Moiz
15/25
=
Hb g/dl 8.462.87. .
MCH pg 19.77
5.05
ou e e erozygous=
Hb g/dl 8.463.05
MCV fl 66.4213.01 MCH pg 21.244.71
8/7/2019 Dr. Bushra Moiz
16/25
Evaluable patients
N=140
Anemia
N=125; M=69Normal hemoglobin
N=15; M=7
Moderate SevereMild
N=12; M=6
M/F=4/0
N=56; M=24
M/F=25/38
N=64; M=39
M/F=43/25
HbA2>3.5% HbA2 >3.5% HbA2>3.5%
=
M I >13
N=4
= =
M I >13
N=13
M I >13
N=32
HbA213
N=2
HbA213
N=18
8/7/2019 Dr. Bushra Moiz
17/25
. ,
which is lower than that reported in other
Annals of hematology. 2002 Jul;81(7):386-8.
A mean retention time o 4.59 0.05 or
HbA2 cases was observed in the study which
is a so supporte y ot ers
. - .
8/7/2019 Dr. Bushra Moiz
18/25
-
peaks of less than 1%.
Male presented significantly earlier thanema es wit respect to age
8/7/2019 Dr. Bushra Moiz
19/25
1.0- 2.9%for simple heterozygotes
American journal of clinical pathology. 2005 May;123(5):657-61.
In contrast, HbA2 level for double
heterozygotes was 2.0-7.0%
8/7/2019 Dr. Bushra Moiz
20/25
heterozygotes for HbA2 and -thalassemia.
8/7/2019 Dr. Bushra Moiz
21/25
the diagnosis of beta thalassemia in Pakistan
Molecular studies were not done CBC were not available for all cases
Iron rofile was not known
8/7/2019 Dr. Bushra Moiz
22/25
Pakistani population but since a considerable
levels in simple and double heterozygotes, we
these hemoglobinopathies.
8/7/2019 Dr. Bushra Moiz
23/25
required
HbA2 needs to be characterized atmolecular level or con irmation
8/7/2019 Dr. Bushra Moiz
24/25
-
Tec nologists an pat ologists s oul e
aware of this
HbA2 should be added to HbA2 to
determine -thalassemia status
8/7/2019 Dr. Bushra Moiz
25/25
Thank you