Descriptive profile of β-thalassemia mutations in West Bengal population: a hospital-based study.
The present study was based in a hospital at which 660 individuals have been screened for thalassemia in the past 4 years. The main purposes of the study were to identify different types of beta mutations prevailing among these patients, and to establish a genotype-phenotypic correlation. Complete blood count, high-performance liquid chromatography, and amplification refractory mutation system-based polymerase chain reaction were performed on peripheral blood samples to detect beta mutations. Of the 660 subjects studied, 380 (57.6 %) were male and 280 (42.4 %) were female. These included 258 (39.09 %) normal individuals, 176 (26.67 %) β-thalassemia carriers, 44 (6.67 %) β-thalassemia major, 6 (0.91 %) cases of sickle β-thalassemia, 6 (0.91 %) carriers of sickle cell anemia, 102 (15.45 %) Hb Eβ-thalassemia, 42 (6.36 %) HbE carriers, 16 (2.42 %) HbE homozygous, and 10 (1.52 %) carriers of other mutations. Genotypic study of beta mutations revealed the prevalence of IVS1-5 mutation among the studied beta carriers to be 46.6 %, and codon 26 (G>A) mutation to be 31.54 %. Other prevailing mutations among the screened individuals include codon 30 (7.53 %), codon 15 (5.01 %), codon 41/42 (3.58 %), and codon 8/9 (1.07 %). Genotype-phenotype correlation revealed that the phenotype of the above-mentioned mutations is associated with mild, moderate, and severe forms of thalassemia.
Department of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute, 16 A Park Lane, Kolkata, 700 016, West Bengal, India.
Deboshree M
DM
Bhattacharyya
Ashis
A
Mukhopadhyay
Jayasri
J
Basak
D001772:Blood Cell Count; D003062:Codon / Q000235:genetics; D005260:Female; D005838:Genotype; D006454:Hemoglobins / Q000032:analysis; D006761:Hospitals / Q000706:statistics & numerical data; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D009154:Mutation; D010641:Phenotype; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
D003062:Codon; D006454:Hemoglobins; D055544:beta-Globins