Hemoglobin Disorders in South India

Vani Chandrashekar,Mamta Soni

doi:10.5402/2011/748939

Vani Chandrashekar, Mamta Soni

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https://doi.org/10.5402/2011/748939

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Journal: ISRN hematology	Publication Date: Jun 28, 2011
Citations: 42	License type: CC BY 3.0

Affiliation: Apollo Hospitals

Abstract

Cation exchange-high performance liquid chromatography (CE-HPLC) is increasingly being used as a first line of investigation for hemoglobinopathies and thalassemias. Together with a complete blood count, the CE-HPLC is effective in categorizing hemoglobinopathies as traits, homozygous disorders and compound heterozygous disorders. We carried out a one year study in Apollo Hospitals, Chennai (Tamil Nadu, South India) during which 543 abnormal chromatogram patterns were seen. The commonest disorder we encountered was β-thalassemia trait (37.9%), followed by HbE trait (23.2%), homozygous HbE disease (18.9%), HbS trait (5.3%), HbE β-thalassemia (4.6%), HbS β-thalassemia (2.5%), β-thalassemia major (2.3%), HbH (1.6%), homozygous HbS (1.4%), HbD trait (0.7%). The average value of HbA2 in β-thalassemia minor was 5.4%. β-thalassemia major had an average HbF of 88% and in HbH the mean A2 was 1.4%. Among the HbE disorders the HbA2 + HbE was 30.1% in the heterozygous state, 90.8% in the homozygous state and 54.8% in HbE β-thalassemia. In the sickle cell disorders, HbS varied from 30.9% in the trait to 79.9% in the homozygous state to 65.6% in HbS β-thalassemia.

Highlights

Hemoglobinopathies result from a structural defect in the globin gene, whereas the thalassemias are due to a quantitative defect in the globin chain production
The commonest disorder was β-thalassemia trait (37.9%), followed by HbE trait (23.2%), homozygous HbE (18.9%), HbS trait (5.3%), HbE β-thalassemia (4.6%), HbS β-thalassemia (2.5%), β-thalassemia major (2.3%), HbH (1.6%), homozygous HbS (1.4%), and HbD trait (0.7%). This compares with other studies [8, 9] (Table 12) where β-thalassemia trait is the commonest disorder
Our study had a high proportion of HbE disorders due to the many patients from north eastern regions of India who frequent our hospital for treatment

Summary

Introduction

Hemoglobinopathies result from a structural defect in the globin gene, whereas the thalassemias are due to a quantitative defect in the globin chain production. HbS, HbE, and HbD are prevalent in India [1]. The prevalence of sickle cell disorders was found to vary from 2.4% to 5.6% among the tribes of Orissa in eastern India [2]. An elevated HbA2 with an average value of about 5%, along with microcytic hypochromic indices, is characteristic of β-thalassemia trait [5]. In β-thalassemia major, in addition to a markedly microcytic hypochromic blood picture, there are elevated HbA2 and elevated HbF ranging from 10 to 90% [5]. Homozygous HbE patients have approximately 90% HbE+A2 with minor elevation of HbF [6]. Less than 50% of abnormal hemoglobin is seen in HbD traits [7]. A2 study is a one-year study, carried out in Apollo Hospitals, Chennai, a tertiary care hospital in South India, and includes all patients who had a clinical or familial suspicion of hemoglobinopathy and a hemoglobinopathy work up was ordered for diagnostic purposes

Materials and Methods

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