title: Hb Showa-Yakushiji [beta110(G12)Leu-->Pro] in four unrelated patients from west Bengal.
abstract: A T-->C mutation in the beta-globin gene at codon 110 that produces the hyper unstable variant Hb Showa-Yakushiji was identified in four unrelated individuals in India. It was found in a compound heterozygous state with other mutations producing beta-thalassemia (thal) or Hb E [beta26(B8)Glu-->Lys]. The mutation producing this abnormal hemoglobin (Hb) was found on the same haplotype in all these patients but differed from the Japanese haplotype, indicating its independent origin in India.
authors.affiliation: Department of Haematology, Christian Medical College, Vellore, India.
authors.forename: Eunice S
authors.initials: ES
authors.lastname: Edison
authors.forename: Ramachandran V
authors.initials: RV
authors.lastname: Shaji
authors.forename: Sankari G
authors.initials: SG
authors.lastname: Devi
authors.forename: Satheesh S
authors.initials: SS
authors.lastname: Kumar
authors.forename: Alok
authors.initials: A
authors.lastname: Srivastava
authors.forename: Mammen
authors.initials: M
authors.lastname: Chandy
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics*; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006446:Hemoglobin E / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; C502559:hemoglobin Showa-Yakushiji; D006446:Hemoglobin E