Study of Hemoglobinopathies at a Referral Laboratory in a Western District of West Bengal among the Antenatal Women and Premarital Men and Women: A 2 Years Study

Abstract

Introduction: Thalassemia and related hemoglobinopathies are a major preventable hematological disorder, affecting most parts of the Indian subcontinent. Prevention of these disorders lies in screening of at-risk population. This study was undertaken to assess the disease burden amongst predefined at-risk population in western districts of West Bengal. Material and methods: A total of 903 cases of antenatal mothers and premarital men and women in the age range of 18-40 years referred for Hemoglobin High Performance Liquid Chromatography were studied during a two year period. Blood samples were collected and tested in an automated hematology analyzer for hematological assessment and HPLC for hemoglobin pattern. Suitable statistical methods were used for analysis of the data. Results: Among the study population, 86.32% were normal and 13.69% showed abnormal hemoglobin fractions. β Thalassemia trait was the most common abnormal hemoglobin comprising 8.34% of the cases. Heterozygous for sickle cell disease (2.22%) was the second most common abnormality, followed by HbE Heterozygous (1.56%). Conclusion: The present cross-sectional study closely follows the thalassemic gene burden in similar studies done in this area previously. With increasing awareness and with this simple screening procedure, it may be possible to eradicate or at least lessen the present community burden of thalassemia in foreseeable future.

Screening for hemoglobinopathies in a socially disadvantaged population from a rural district of West Bengal, India

“…This was in contrast to many other studies from this region of the country by Mohanty et al, Mandal et al and Chattopadhyay et al where in a community with high prevalence of beta thalassemia trait and HbE traits, HbE beta thalassaemia comes out as the commonest compound heterozygous thalassemia. 5,13,18 HbS beta thalassemia, a clinically significant thalassemia was detected in 0.025% (n=27) cases in the present study was much lower than by other previous study from the locality that had shown a prevalence of 0.15%. 13 As evident from Table 2, in spite of high prevalence of different traits especially beta thalassemia trait and HbE trait, the detection rate of different homozygous and compound heterozygous thalassaemias are much lower in the present study in comparison to many other previous studies.…”

“…Chattopadhyay et al from the same locality found high detection rate of Hb S (2.22%). 18 Kaur et al reported prevalence of sickle gene to be 0-18% in north eastern India and Colah RB et al reported an incidence of HbS trait of <5% in West Bengal. 19,20 But a recent study by Ray et al from Kolkata in a study in school going children from tribal populations of almost all districts of West Bengal reported HbS in only 0.4% of the study population; they postulated that the widely varying prevalence of alpha deletion (83%) and exceptionally low prevalence of HbS (0.4%) may be a consequence of epistasis.…”

“…13 As evident from Table 2, in spite of high prevalence of different traits especially beta thalassemia trait and HbE trait, the detection rate of different homozygous and compound heterozygous thalassaemias are much lower in the present study in comparison to many other previous studies. 6,13,18 This may be a direct effect of increasing the number of thalassemia detection camps in recent years and good level of counselling of the target population by health care personnel. Preventive programmes carried out based on detection of heterozygous states and counselling to avoid marriage between carriers and/or foetal diagnosis have been very effective in reducing birth of a thalassaemic child.…”