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Article

Distribution of beta-thalassemia mutations in the Indian population referred to a diagnostic center.

Hemoglobin - 1 Aug 2000

Vaz F E, Thakur C B, Banerjee M K, Gangal S G

Abstract excerpt

Hemoglobinopathies are the most commonly inherited genetic disorders in India. Population screening has identified certain communities in India with high risk of beta-thalassemia, the prevalence of carrier status in some being as high as 17%. Over a period of 6 years we have conducted DNA analysis on 1,233 carriers of 23 beta-thalassemia mutations and Hb E, using the amplification refractory mutation system. The...

Topics

Alleles
DNA Mutational Analysis
Ethnicity
Family Health
Frameshift Mutation
Gene Frequency
Genetic Testing
Hemoglobin E
Heterozygote
Humans
India
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Point Mutation

beta-Thalassemia

Source

Identifiers

PMID: 10975438
DOI: 10.3109/03630260008997526

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-10975438-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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