title: Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population.
abstract: A variety of mutations causing beta-thalassemia (beta-thal) have been seen in the Indian subcontinent. We report eight families in whom two novel mutations [codon 16 (C>T), IVS-II-613 (C>T)] and three rare mutations [codons 22/23/24 (-7 bp) (-AAGTTGG), -87 (C>A), codon 15 (-T)] were encountered among 375 beta-thal heterozygotes. They were referred to us for molecular characterization or prenatal diagnosis during a period of 2 years. Haplotyping was also done for linkage analysis.
authors.affiliation: National Institute of Immunohaematology, Indian Council of Medical Research, King Edward Memorial Hospital Campus, Mumbai, India.
authors.forename: Anita
authors.initials: A
authors.lastname: Nadkarni
authors.forename: Ajit
authors.initials: A
authors.lastname: Gorakshakar
authors.forename: Reema
authors.initials: R
authors.lastname: Surve
authors.forename: Pratibha
authors.initials: P
authors.lastname: Sawant
authors.forename: Supriya
authors.initials: S
authors.lastname: Phanasgaonkar
authors.forename: Sona
authors.initials: S
authors.lastname: Nair
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.forename: Roshan B
authors.initials: RB
authors.lastname: Colah
mesh_terms: D004252:DNA Mutational Analysis; D005192:Family Health; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007194:India / Q000453:epidemiology; D009154:Mutation; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D055544:beta-Globins