Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population.
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.
Nadkarni
Anita
A
National Institute of Immunohaematology, Indian Council of Medical Research, King Edward Memorial Hospital Campus, Mumbai, India.
Gorakshakar
Ajit
A
Surve
Reema
R
Sawant
Pratibha
P
Phanasgaonkar
Supriya
S
Nair
Sona
S
Ghosh
Kanjaksha
K
Colah
Roshan B
RB
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*
D055544:beta-Globins