Screening for thalassemia and other hemoglobinopathies in a tertiary care hospital of West Bengal: Implications for population screening

Abstract

Hemoglobinopathies are common genetic disorders of hemoglobin, which can be prevented by population screening and offering genetic counseling. In absence of population-based screening for hemoglobinopathies, the hospital-based diagnosis register provide idea about the extent of problem in the community. The present study was undertaken to find out the burden of hemoglobinopathies and spectrum of this disorders among the population who were screened in the hospital-based screening program. A record-basedanalysis of subjects who underwent screening for hemoglobinopathies in Burdwan Medical College and Hospital over a period of 3 years and 4 months revealed that overall 29.3% of subjects were positive for hemoglobinopathies. Beta thalassemia heterozygous was the most commonhemoglobinopathy in this region closely followed by hemoglobin E heterozygous. In view of high prevalence of hemoglobinopathies in this region, a routine premarital screening program is needed for identification and prevention of high-risk marriages.

Variant Hemoglobin Spectrum By Cation Exchange High Performance Liquid Chromatography: A Study 0f 2035 Subjects

“…Sachdev et al [26] , Jain et al [30] and Mukhopadhyay et al [29] found 12.57%, 29.3 % and 14.5% abnormal hemoglobin fractions respectively. Sachdev et al [26] , Rao et al [27] , Dolai et al [28] and Mukhopadhyay et al [29] found beta thalassemia trait cases to be 8.9 %,18.1 %,10.38 % and 5.6 % respectively.…”

Spectrum of Types of Thalassemias and Hemoglobinopathies: Study in a Tertiary Level Children Hospital in Bangladesh

“…It was also detected to be the most common type of thalassemia in a similar study in Bangladesh by Uddin et al 3 Studies of pattern of hemoglobinopathies in West Bengal in India also found Hb Eβ thalassemia to be the most common type of thalassemia. [4][5][6] Hemoglobin E β thalassemia shows a varied presentation from a mild type of thalassemia to severe type like beta thalassemia major. 7,8 β thalassemia major was the second most common type of thalassemia seen.…”

“…3 while it was found in 1.07%, 0.2% and 3.67% in three studies in Eastern India. [4][5][6] HbS gene is mainly seen in Central India like Maharashtra, Madhya Pradesh and Gujarat while it is rare in other states of India. 9 Hb S gene is characterized by replacement of glutamine to valine at position 6 of beta globin chain.…”

“…10 δβthalassemia was presumably diagnosed in 1case only ( 0.02%) while Uddin et al reported in 3 cases (0.5%) but interestingly it was not reported in three large study of hemoglobin pattern in Eastern India. [4][5][6] β thalassemia trait was seen in 863 cases (17.94%) and its frequency was rather high as most of the cases referred had low Hb or abnormal RBC indices and specially samples were sent to rule out β thalassemia trait from iron deficiency. Nearly 1.5% of the world's population are carriers of β trait.…”

“…11 High frequency of β trait was also detected by Jain et al and Chaudhury et al in their study as their samples were also referred cases with abnormal hemogram. 4,6 In β trait Hb may be lower than normal with elevation of RBC count and low MCV and MCH and a HbA 2 level typically between 4-6%. The blood film shows microcytosis, anisocytosis, poikilocytosis and hypochromia.…”