Hb Showa-Yakushiji [beta110(G12)Leu-->Pro] in four unrelated patients from west Bengal.
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.
Edison
Eunice S
ES
Department of Haematology, Christian Medical College, Vellore, India.
Shaji
Ramachandran V
RV
Devi
Sankari G
SG
Kumar
Satheesh S
SS
Srivastava
Alok
A
Chandy
Mammen
M
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
D003062:Codon; D006455:Hemoglobins, Abnormal; C502559:hemoglobin Showa-Yakushiji; D006446:Hemoglobin E