HAPLOTYPE ANALYSIS OF BANGLADESHI β-THALASSAEMIA PATIENTS: A PILOT STUDY

Abstract

β-thalassaemia is one of the major genetic disorders in Bangladeshi
population. Nevertheless, systematic study on the genetic basis of this disease in
Bangladeshi population is very limited. The major aim of this study was to
identify and characterize the β-globin gene cluster haplotype in Bangladeshi
β-thalassaemia patients. For this, β-thalassaemia patients diagnosed on
haematological observations were tested at the genetic level for different β-globin
cluster haplotypes. Twenty-eight β-globin gene clusters of fourteen confirmed
β-thalassaemia patients were analyzed using PCR amplification and Restriction
Fragment Length Polymorphism (RFLP). Type VII haplotype was found to be the
most common β-globin gene cluster haplotype in the studied population. Two of
the patients had Type VII haplotype in homozygous form. Only one patient had
atypical haplotype in one locus. The study reports β-globin cluster haplotype of
fourteen Bangladeshi patients for the first time. However, it should be noted that
small size precludes the possibility of determining the detailed distribution of
different haplotypes and their association with different β-thalassaemia
mutations.