Profile of β‐thalassemia in eastern India and its prenatal diagnosis

Abstract

The population of this region is conscious and willing to accept prenatal diagnosis as a means of control of thalassemia.

Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India

“…Couples presented earlier for prenatal diagnosis, whereas in previous Indian studies they presented around the 14th-16th week Gajra et al, 2002;Bandopadhyay et al, 2004). The UK NHS thalassemia program aims to complete 60% of procedures before the 12th week in order to reduce couple anxiety.…”

Value of Mean Corpuscular Volume and Mean Corpuscular Haemoglobin in Screening for β-Thalassaemia Trait

“…In our study subjects we did not have data on the mutational profile and therefore used three different cut-offs for HbA 2 concentration that corresponded to varying likelihood of ␤ -thalassaemia. However, two published studies [17,18] suggest that the two commonest mutations in populations similar to the study population would be the IVSI-1 and the 619-bp deletion with allele frequencies ranging from 25 to 87%. Thus, we expected a majority of the ␤ -thalassaemia carriers in our study to carry the ␤ 0 -mutations.…”

Prevalence of β-Thalassemia and Hemoglobin E in Two Migrant Populations of Manipur, North East India

“…Thalassemia mutation selection in malarial regions is undebatable (Old, 2003). It is also reported to be present in the North-Eastern parts of India along with HBE (Bandyopadhyay et al, 2004;Balgir, 2005). However, data are limited (Saraswathy et al, 2009c) on the prevalence and molecular characterization of thalassemia at the community level as other studies on thalassemia prevalence are hospital based (Verawalla et al, 1991;Verawalla, 1992;Garewal et al, 1994;Verma et al, 1997;Vaz et al, 2000).…”