title: Distribution of beta-thalassemia mutations in three Asian Indian populations with distant geographical locations.
abstract: We have identified the beta-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 beta-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 beta-thalassemia trait who were not related. Besides beta-thalassemia alleles, common to Asian Indian beta-thalassemia patients, some unexpected alleles were observed in the patients from South Africa, including a newly discovered frameshift at codon 15 (-T).
authors.affiliation: Laboratory of Protein Chemistry, Medical College of Georgia, Augusta 30912-2100.
authors.forename: E
authors.initials: E
authors.lastname: Baysal
authors.forename: S
authors.initials: S
authors.lastname: Sharma
authors.forename: S C
authors.initials: SC
authors.lastname: Wong
authors.forename: V B
authors.initials: VB
authors.lastname: Jogessar
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002170:Canada; D002648:Child; D005828:Genetics, Population; D006801:Humans; D007194:India / Q000208:ethnology; D008969:Molecular Sequence Data; D009154:Mutation; D013019:South Africa; D017086:beta-Thalassemia / Q000235:genetics*