Spectrum of Hemoglobinopathies and Thalassemias Diagnosed on Hplc in A Tertiary Teaching Hospital of Northern India
Introduction: Hemoglobinopathies constitute an increasing global health burden. They are the most common genetic disorders in the World. As per WHO, the incidence is highest in the Middle East and Indian subcontinent. Various hemoglobin variants including HbF and HbA2 can be screened using a si...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Pvt. Ltd.
2016-07-01
|
| Series: | National Journal of Laboratory Medicine |
| Subjects: | |
| Online Access: | http://www.njlm.net/articles/PDF/2149/19972_F(P)_PF1(VsuGH)_PFA(GH)_PF2(VsuGH).pdf |
| Summary: | Introduction: Hemoglobinopathies constitute an increasing
global health burden. They are the most common genetic
disorders in the World. As per WHO, the incidence is
highest in the Middle East and Indian subcontinent. Various
hemoglobin variants including HbF and HbA2 can be
screened using a single, highly excellent method with the
use of high performance liquid chromatography (HPLC).
Aim: The present study was carried out to diagnose
hemoglobinopathies and thalassemias by the use of HPLC
in a tertiary care teaching hospital of Northern India.
Materials and Methods: A prospective study of 22 months
duration was conducted including 100 patients screened
for the presence of thalassaemia or any other hemoglobin
structural variants. All cases of microcytic hypochromic
anemia (MCV <80 fl, MCH <27 pg) not responding to
conventional treatment and with clinical suspicion of
hemoglobinopathy were included in the present study.
Patient witha history of recent blood transfusion of less
than 3 months duration were excluded from the study.
Results: A total of 100 cases (57 males and 43 females)
were included in the present study. The age group of patients
ranged from 2 months to 40 years. Complete blood count,
Red blood cell indices and peripheral blood examination
were done in all the cases. Out of the 100 cases, 51 (51%)
cases displayed abnormal hemoglobin fractions on HPLC
of which. 42 (42%) cases were diagnosed as thalassemia
trait, 4 cases (4%) as beta thalassemia major (HbF more
than 75%), 2 cases as HbE (2%) and, 3 cases as HPFH
(3%). 49 cases had a normal HPLC pattern.
Conclusion: HPLC is a rapid, accurate and useful
method for diagnosing hemoglobinopathies. It serves
as an important tool in diagnosing beta thalassemia
traits especially in developing countries like India, where,
the resources for detection of hemoglobinopathies are
limited. Early diagnosis may help in proper and specific
management. |
|---|---|
| ISSN: | 2277-8551 2455-6882 |