Article
Hb Belfast [beta15(A12)Trp-->Arg]: definition of the clinical and hematological phenotype.
Hemoglobin - 1 Aug 2004
Galanello Renzo, Perseu Lucia, Barella Susanna, Satta Stefania, Fais Antonella, Era Benedetta, Corda Marcella
Abstract excerpt
We report the sixth occurrence of Hb Belfast [beta15(A12)Trp-->Arg], a mild, unstable beta chain variant, in a large family wherein nine subjects were affected. DNA analysis showed a TUG-->AGG mutation at codon 15 of the beta-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...
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