Hb Belfast [β15(A12)Trp→Arg]: Definition of the clinical and hematological phenotype

R. GALANELLO;L. PERSEU;S. BARELLA;SATTA, STEFANIA;FAIS, ANTONELLA;ERA, BENEDETTA;M. CORDA

2004-01-01

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Abstract

We report the sixth occurrence of Hb Belfast [β15(A12)Trp→Arg], a mild, unstable β chain variant, in a large family wherein nine subjects were affected. DNA analysis showed a TGG→AGG mutation at codon 15 of the β-globin gene, confirming a Trp→Arg amino acid substitution. The oxygen affinity of the isolated variant was increased. The clinical phenotype is silent or very mild, the only clinical finding being an intermittent moderate jaundice.