Direct DNA analysis in a new Italian carrier of Hb-Belfast: beta 15 (A12) Trp-->Arg.
A young woman aged 21 was found to be a new carrier of Hb-Belfast: beta 15 (A 12) Trp-->Arg, and the characteristics of her hemoglobinopathy were not different from those of the four cases so far described: mild hemolysis with molecular instability of the abnormal Hb, red cells inclusion bodies, and slight alterations of some functional parameters of whole blood. On this occasion, direct DNA analysis indicated the genomic nucleotide replacement of the disease: TGG-AGG. This was inherited by the mother, originating from Bari (Apulia).
Scimè-Degani
V
V
Analysis Laboratory, Regina Margherita Children Hospital, Turin, Italy.
Ivaldi
G
G
Baffico
M
M
Leone
D
D
Parodi
M
M
Pascotto
D
D
Garofalo
F
F
Rabino-Massa
E
E
D000328:Adult; D001483:Base Sequence / Q000235:genetics; D004247:DNA / Q000235:genetics*; D005260:Female; D006453:Hemoglobinopathies / Q000097:blood* / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics
D006455:Hemoglobins, Abnormal; C036392:hemoglobin Belfast; D004247:DNA