Mutation Pattern in Beta Thalassaemia Trait Population: A Basis for Prenatal Diagnosis

Bilquis Banu,Golam Sarwardi,Md Selimuzzaman,Salma Sadiya,Waqar Ahmed Khan

doi:10.3329/bmrcb.v44i2.38688

Bilquis Banu, Golam Sarwardi + Show 3 more

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https://doi.org/10.3329/bmrcb.v44i2.38688

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Abstract

A total of 100 Bangladeshi beta thalassaemia carrier subjects were analysed by allele specific primers using Amplification Refractory Mutation System – Polymerase Chain Reaction. Among these, four common mutations were found in 90 cases (90.0%), five less common mutations in 9 cases (9.0%) and a rare mutation in 1 case (1.0%). Among the four common mutations, IVS1-5 (G-C) was the most common beta thalassaemia mutation and found in 63.0% cases, followed by Cd 30 (G-C) in 18.0%, Fr 8/9 (+G) in 5.0% and Fr 41/42 (-TTCT) in 4.0% respectively. Among the five less common mutations, Cd16 (-C) was found in 3.0%, -90 (C-T) and IVS1-130 (G-C) were seen in 2.0% each and remaining Cd15 (-T) and Cd15 (G-A) were detected in 1.0% each. The rare mutation was -29 (A-G), observed in one case (1.0%). With the application of this knowledge, it will help us for prenatal diagnosis and genetic counselling in Bangladesh for prevention of the disease.

Highlights

Thalassaemia is a common and debilitating autosomal recessive haemoglobin disorder affecting many populations in the world including Bangladesh
For further confirmation of beta thalassaemia trait, complete blood count (CBC) was done in all cases by automated haematology analyzer (Mythic-18, France) to evaluate the values of red blood cell (RBC) parameters and carrier status was confirmed by High Performance Liquid Chromatography (HPLC) (D-10TM Dual Program, Bio-Rad Laboratories, Hercules, CA, United States)
Two millilitre of blood was taken in EDTA vial from each case for CBC and HPLC and additional 2 ml of blood was taken in another EDTA vial for DNA analysis after taking verbal consent

Summary

Introduction

Thalassaemia is a common and debilitating autosomal recessive haemoglobin disorder affecting many populations in the world including Bangladesh. In Bangladesh, two types of thalassaemia are common. One of them is beta thalassaemia major and the other one is HbE beta thalassaemia, with overall prevalence of beta thalassaemia trait 4.1% and HbE trait 6.1%. It is estimated that more than seven thousand children are born with thalassaemia each year in the country.[1] Thalassaemia causes severe blood dependent anaemia and to correct the anaemia, blood transfusion is given every month or more frequently. Frequent blood transfusion causes deposition of iron in the body which is toxic and causes damage to organs like liver, heart, pancreas leading to their failure. Majority of the thalassaemic patients cannot afford adequate treatment and die at an early age

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