First report of a nonsense mutation at codon 15(TGG-->TAG) in exon 1 of the beta globin gene in a beta thalassemia trait in State of Orissa, India.
Prevention of beta thalassemia requires knowledge of the molecular spectrum occurring in the population at risk. This knowledge is particularly necessary when prevention control is applied to a multiethnic population. For this purpose, we are analyzing different populations of Orissa (India). During the study we encountered a beta thalassemia major patient (a child) who was doubly heterozygous for IVS I-5(G-->C) and codon 15(G-->A) alleles where codon 15(G-->A) was for the first time found in the father of the patient. Also, the patient showed severe clinical abnormalities because of the severe nature of these beta thalassemia alleles. This will provide further insights into beta globin gene regulation and the genotype-phenotype relationship.
Nishank
Sudhansu Sekhar
SS
Regional Medical Research Centre (ICMR), Chandrasekharpur, Bhubaneswar-751023, India.
Ranjit
Manoranjan
M
Chhotray
Guru Prasad
GP
D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D005914:Globins / Q000235:genetics*; D006461:Hemolysis / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007194:India; D008297:Male; D010375:Pedigree; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D018389:Codon, Nonsense; D005914:Globins