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

  • Bilquis Banu BICH, Dhaka Shishu Hospital, Dhaka
  • Waqar Ahmed Khan Bangladesh Institute of Child Health and Dhaka Shishu Hospital, Dhaka.
  • Md. Selimuzzaman Bangladesh Institute of Child Health and Dhaka Shishu Hospital, Dhaka.
  • Golam Sarwardi Dhaka Shishu Hospital, Dhaka.
  • Salma Sadiya Bangladesh Institute of Child Health and Dhaka Shishu Hospital, Dhaka.
Keywords: Beta thalassaemia carrier, ARMS-PCR, Bangladeshi mutation, Prenatal diagnosis

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.

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Author Biographies

Bilquis Banu, BICH, Dhaka Shishu Hospital, Dhaka
Professor & Head, Department of Clinical Pathology
Waqar Ahmed Khan, Bangladesh Institute of Child Health and Dhaka Shishu Hospital, Dhaka.
Chief Coordinator, Department of Biochemistry and Molecular Biology
Md. Selimuzzaman, Bangladesh Institute of Child Health and Dhaka Shishu Hospital, Dhaka.
Professor & Head, Department of Paediatric Haematology Thalassaemia and Oncology
Golam Sarwardi, Dhaka Shishu Hospital, Dhaka.
Ex-Principal Scientific Officer, Department of Biochemistry and Molecular Biology
Salma Sadiya, Bangladesh Institute of Child Health and Dhaka Shishu Hospital, Dhaka.
Assistant Professor, Department of Biochemistry and Molecular Biology
Published
2018-11-22
How to Cite
Banu, B., Khan, W., Selimuzzaman, M., Sarwardi, G., & Sadiya, S. (2018). Mutation Pattern in Beta Thalassaemia Trait Population: A Basis for Prenatal Diagnosis. Bangladesh Medical Research Council Bulletin, 44(2), 65-70. https://doi.org/10.3329/bmrcb.v44i2.38688
Section
Research Papers