Mutation analysis of the HBB gene in selected Bangladeshi beta-thalassemic individuals: presence of rare mutations.
OBJECTIVE
Bangladesh has a large number of thalassemic patients. However, no extensive analysis of the mutations in the HBB gene of thalassemic patients has been previously carried out. We have conducted a systematic research to reveal thalassemia mutations in the Bangladeshi population. In this preliminary analysis of 587 bp of the HBB gene in selected thalassemic individuals, some rare mutations in world perspective have been found to be significantly high in the Bangladeshi population, together with the common mutations for thalassemia.


RESULTS
A 587-bp segment of the HBB gene from 32 chromosomes of 16 beta-thalassemic individuals was analyzed for molecular characterization of the disease. Splice junction mutation IVS-I-5 was found to be the most common. The analysis also revealed some rare mutations HBB: c.-80T>C, HBB: c. 92G>C, HBB: c-92C>G, which are not prevalent in geographically adjacent populations.


CONCLUSIONS
This is a first of this kind of study in the Bangladeshi population. Although the small sample size makes it difficult to make any population genetics inference, this study can be regarded as the seminal research for a large-scale study to determine the complete mutation profile underlying thalassemia in the Bangladeshi population. The complete mutation profile will provide invaluable strategies (e.g., prenatal diagnosis and genetic counseling) for better management of thalassemia in the Bangladeshi population.
Ibn Ayub
Mustak
M
Department of Genetic Engineering and Biotechnology, University of Dhaka, Dhaka, Bangladesh.
Moosa
Mahdi Muhammad
MM
Sarwardi
Golam
G
Khan
Waqar
W
Khan
Haseena
H
Yeasmin
Sabina
S
D044466:Asian People / Q000235:genetics*; D001459:Bangladesh / Q000453:epidemiology / Q000208:ethnology; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA; D055544:beta-Globins / Q000737:chemistry / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*
D055544:beta-Globins