Mutation Spectrum of ß-Thalassemia in Some Ethnic Groups of North Maharashtra, India.
Hemoglobin
; 47(3): 105-110, 2023 May.
Article
em En
| MEDLINE
| ID: mdl-37381791
ABSTRACT
Beta-thalassemia is the most common inherited single-gene disorder in the world, caused by more than 200 known mutations in the HBB gene. In India, the average prevalence of ß-thalassemia carriers is 3-4%. Several ethnic groups have a much higher prevalence, about 8% in the tribal groups, according to the 2011 census. The study's main goal is to identify common ß-thalassemia mutations and the frequencies of different haplotypes in various communities in North Maharashtra. Nashik district had the highest prevalence of ß-thalassemia (34%), followed by Ahmednagar (29%), Jalgaon (16%), Dhule (14%), and Nandurbar (7.0%). Prevalence of ß-thalassemia was highest in the schedule caste community (SC) (48%), followed by (17%) in Muslims, (14%) in other backward classes (OBC), (13%) in Schedule Tribe (ST), and (8.0%) in the general population The six most common ß-thalassemia mutations detected in this study are IVS 1 > 5 (GâC), Cd 15(GâA), Cd 41/41 (-TCTT), Cd 8/9(+G), IVS 1 > 1(GâT) and Cap + 1(A > G). Among these mutations, IVS 1 > 5 (G > C) was the most common type of mutation found in ß-thalassemia patients in the North Maharashtra population. Type-I haplotype was the most prevalent among all communities. Nashik and Ahmednagar districts were highly affected by ß-thalassemia. Among different ethnic groups, the SC and Muslim communities were the worst affected with a higher proportion of ß-thalassemia and increased frequency of mutations.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Etnicidade
/
Talassemia beta
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article