Hb Belfast [beta15(A12)Trp-->Arg]: definition of the clinical and hematological phenotype.
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 finding being an intermittent moderate jaundice.
Galanello
Renzo
R
Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, Cagliari, Italia. renzo.galanello@mcweb.unica.it
Perseu
Lucia
L
Barella
Susanna
S
Satta
Stefania
S
Fais
Antonella
A
Era
Benedetta
B
Corda
Marcella
M
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D003062:Codon / Q000235:genetics; D005190:Family; D005260:Female; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D010100:Oxygen / Q000737:chemistry* / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D011485:Protein Binding / Q000235:genetics
D003062:Codon; D006455:Hemoglobins, Abnormal; C036392:hemoglobin Belfast; D010100:Oxygen