Distribution of β-thalassemia mutations in three asian indian populations with distant geographical locations
1994; Taylor & Francis; Volume: 18; Issue: 3 Linguagem: Inglês
10.3109/03630269409043620
ISSN1532-432X
AutoresE. Baysal, Shruti Sharma, S. C. Wong, V.B. Jogessar, T. H. J. Huisman,
Tópico(s)Hemoglobinopathies and Related Disorders
ResumoWe have identified the β-thalassemia alleles in 47 pediatric patients with transfusion-dependent thalassemia major from a clinic in New Delhi and in 105 heterozygous relatives. Surprisingly, only five mutations were present in 94 β-thalassemia chromosomes with frequencies from 10 to 32%. This observation greatly facilitated the initiation of a prenatal diagnostic program. Similar studies were conducted for seven Asian Indian patients from Calgary, Canada, seven Asian Indian patients from Durban, South Africa, and from heterozygous relatives, and persons with a β-thalassemia trait who were not related. Besides β-thalassemia alleles, common to Asian Indian β-thalassemia patients, some unexpected alleles were observed in the patients from South Africa, including a newly discovered frameshift at codon 15 (-T).
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