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OCCURRENCE OF HAEMOGLOBINOPATHIES AND THALASSAEMIA IN NORTH

EAST INDIA -A HOSPITAL BASED STUDY

Article · October 2013

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Monalisha Saikia Borah Dr MAUCHUMI SAIKIA Pathak

Asian Institute of Management & Technology, Guwahati Tezpur Medical College and Hospital
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Research Article ISSN 2320-2912
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OCCURRENCE OF HAEMOGLOBINOPATHIES AND THALASSAEMIA IN
NORTH EAST INDIA - A HOSPITAL BASED STUDY

*MONALISHA SAIKIA BORAH1, DR.MAUCHUMI SAIKIA PATHAK2 and

DR.PRASANTA KUMAR BHATTACHARYA3
1Senior Research Fellow, Department of Biochemistry, Gauhati Medical College &
Hospital, India.
2Professor, Department of Biochemistry, Gauhati Medical College & Hospital, India.
3Professor, Department of Medicine, Gauhati Medical College & Hospital, India.

Abstract:
Haemoglobinopathies and thalassaemia are the most common haematological genetic
diseases. Prevalence of Haemoglobin E is most common in South East Asia, and in India
it is commonly found in the North East region. The prevalence of beta thalassaemia is
also found in North East India. The diagnosis of these monogenic genetic
haematological diseases is very important to decrease the rate of its occurrence. This
study is a hospital based study undertaken to find out the occurrence of these Hb
variants. In this study, out of total 464 cases, 313 cases were positive for
Haemoglobinopathies and thalassaemias among the suspected anaemic cases. So with
an occurrence rate of around 67.46% these are a serious health problem and require
proper counseling and awareness programmes.
397

Key words: Anaemia, Haemoglobinopathies, Genetic counseling, North East India,

Thalassaemia.
Page

*For Correspondence: monalisa.saikia7@gmail.com

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INTRODUCTION countries including India5 and the
Haemoglobin (Hb) is produced by genes distribution of specific disorders varies
that control the expression of geographically and by community6. The
Haemoglobin protein. Defects in these World Health Organisation (WHO)
genes produce abnormal haemoglobins estimates that about 5% of the world
and anaemia, which are inherited by the population is carrier for haemoglobin
next generation. The Hb inherited disorders. Each year about 300,000
disorders are classified into 2 classes- infants worldwide are born with
Haemoglobinopathies and thalassaemia syndromes (30%) or sickle
Thalassaemia. Haemoglobinopathies, cell anaemia (70%) 7.
which are hereditary disorders of
haemoglobin, are characterized by the The Indian peninsula is a vast reservoir
production of structurally variant of abnormal haemoglobins as well as
haemoglobin due to abnormalities in the thalassaemias. The Hb variants and
formation of the globin moiety of the thalassaemia, so far detected in India
haemoglobin molecule1 such as Hb S, C, include HbD, E, H, J, K, L, M, Q, S, and
D, E etc. The structural alterations in the hereditary persistence of foetal
Haemoglobinopathies are mostly due to haemoglobin (HPFH)8. HbS is widely
substitution of amino acid2. distributed all over India. Among the
Haemoglobinopathies are prevalent tea plantation workers of Assam, the
worldwide with variable geographic HbS is reported9. The Sikhs living in the
distribution3. In South East Asia and in Punjab is affected with HbD. It is also
the Indian subcontinent, this is one of found in Negroes and Europeans. HbD
the most common disorders of blood in heterozygous and double
posing a major genetic and public health heterozygous state (HbE-HbD) was
problem4. detected in an Ahom family, affiliated to
398

Tai- Kadai linguistic group of Assam10.

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The hereditary disorder of haemoglobin Hb E (βE globin gene) is predominantly

poses a massive health problem in many found in South East Asia. In India HbE

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is mostly confined to the Northeastern scenario of its occurrence rate in North
part. The cumulative gene frequency of east India.
Haemoglobinopathies in India is 0.042
11. MATERIALS AND METHODS:
Ethical clearance was taken from the
Among the variant haemoglobins, HbE Institutional Ethics Committee for this
(α2β2 26glu-lys) is the most common one study. In the present study, blood
found in Asian population affecting samples from suspected anaemic
about 30 million inhabitants of subjects attending/admitted to the
Southeast Asia12. In India, HbE is mostly tertiary care hospital of North East India
confined in the population of within a period of 14 months were
Northeastern part of the country13,14,15. collected in EDTA vials after obtaining
HbE was suggested as a marker for the written informed consent. Their
Mongoloid element in Northeast Indian necessary information was recorded in a
populations16. In recent times studies proforma through personal interview
have shown an increasing prevalence of with the respective persons whose
HbE (0.159) in Eastern Uttar Pradesh17 blood samples were collected. The
and also in the adjoining areas18,19. In subjects were from different states like
Orissa, prevalence of HbE has been Assam, Arunachal Pradesh and
reported in Dhelki Kharia tribe (0.033) Meghalaya of the North East region of
and the whole Kharia community India. Subjects who were given blood
(0.015) of Sundargarh district 20,21. About transfusion within a period of 3 months
3% of the world’s population carries the were excluded from the study group.
β thalassaemias genes22.
To carry out the study, Haematological
The objective of this hospital based indices were measured using automated
399

study is to find out the occurrence of haematology analyzer (SYSMEX pocH-

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these Hb variants among the suspected 100i). Further characterization of the

anaemic cases, thus giving an overall samples along with quantification of the

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different Hb components, i.e. HbAo, RESULTS AND DISCUSSIONS:
HbA2, HbF etc were done by D10 TM A total of 464 samples were screened for
Haemoglobin Testing System (BioRad). the Hb Variants. Out of which 313
It is a fully automated analyzer samples (67.46%) were either having
consisting of a single module that beta thalassaemia minor, beta
provides an integrated method for thalassaemia major, Hb S trait, Hb S
sample preparation, separation and disease, Hb E heterozygous, HbE
determination of specific haemoglobins homozygous or Compound
in whole blood. The separation is based heterozygous for HbE– beta
on the principles of high performance thalassaemia. The rest 151 samples
liquid chromatography (HPLC). (32.54%) did not have any
haemoglobinoathies or thalassaemia
(Figure:1).

Figure 1: Pie diagram showing the percentage of occurrence of Haemoglobinopathies

and thalassaemias.

% of occurrence of Hb Variants

No
haemoglobinopat
hies or
thalassaemias
32.54% Haemoglobinopat
hies and
thalassaemias
67.46%
400
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According to published literatures, high
frequencies of HbE were reported
earlier from Assam (0.20-0.60) and also a
high prevalence (0.61) was observed in
the three populations of West Bengal
(0.12-0.61)23. Prevalence of HbE is
widely variable among the different
ethnic groups of Northeast region of
India24. In some of the ethnic groups of
the region, the gene frequency for βE
globin gene is as high as 0.625.
The prevalence of HbE among various
ethnic groups of Assam are: Brahmin
(0.049), Kalita (0.12), Muslim (0.101),
Chutiya (0.298), Rajbongshi (0.304),
Kachari (0.506), Bodo Kachari (0.593)
The present study revealed that the
occurrence rate of Hb variants in North
east region among the suspected
anaemic cases is 67.83% which implies
that more than 50% of the subjects
studied were diagnosed with
Haemoglobinopathies or thalassaemias.
Among the subjects, most of the carriers
were even unaware of their disease
status and leading a normal life as the
carrier states does not cause serious
clinical manifestations. But problems
arise when these healthy carriers marry
a partner who is also a carrier of these
monogenic diseases and later give birth
to babies which are homozygous.
26.

Studies conducted among few tribes of As they remain unaware and

Arunachal Pradesh indicate gene undiagnosed and due to lack of
frequency of HbE in the range of 0.183 awareness they never go for prenatal
to 0.242 27. The Khasi and the Garo tribe diagnosis or any genetic counseling thus
of Meghalaya has a HbE gene frequency leading to birth of babies with
of 0.225 and 0.496 respectively 28. The thalassaemia major or compound
gene frequency for the βE globin gene in heterozygous sates (like compound
the different ethnic groups of Tripura is heterozygous for HbE- β thalassaemia)
substantially high29. The gene frequency which require frequent blood
401

of HbE among the mixed Naga group of transfusions. Patients with beta
Nagaland was found to be 0.03530. thalassaemia major need regular blood
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transfusion (once or twice monthly)

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which again leads to iron overload. So North east India may help in curbing its
iron chelating agent is required. occurrence and in solving this serious
health problem.
The treatment of thalassaemia is a
lifelong treatment and if not treated
For maximum information regarding
leads to death of the patient. Bone
the genetic disorder and the available
marrow transplantation is costly but is
options, the couples or individuals can
successful in most of the cases, however
go for genetic counseling. This
compatible donors are not always
preliminary study revealed that
found. Availability of treatment and
Haemoglobinopathies and
diagnosis may lead to increase life
Thalassaemias is a major health problem
expectancy but adds to the cost per
among the people of North east India
patient, which can have serious financial
and effective prevention approaches to
implications for families.
thalassaemia must be adopted by the
Government with carrier screening
CONCLUSION: programmes.
Diagnosis of these single gene
autosomal hereditary diseases is very Acknowledgement: The authors are
important to reduce its occurrence rate. thankful to Department of
Proper awareness programmes, prenatal Biotechnology (DBT), Ministry of
screening in couples with risk and Science & Technology, Government of
neonatal screening in risk areas like in India, for the financial support.
402
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