[Biochemical and clinical studies of 2 new Italian cases of Hb G-Ferrara heterozygosis].
The Authors report the data concerning a family coming from Ficarolo (Rovigo). The father and one son were found hematologically healthy, but resulted carriers of Hb G-Ferrara. This is an unstable rare pigment with a replacement in the beta 57 (E-1) helicoidal position. The type and site of the mutation explain the "in vitro" molecular instability; on the other hand, this latter doesn't seem to cause any hematological disorder, even if an increased met-Hb production was found when affected blood was incubated at 37 degrees C for two hours in sterile conditions.
D000328:Adult; D000595:Amino Acid Sequence; D001797:Blood Protein Electrophoresis; D002648:Child; D002854:Chromatography, Paper; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation
D006455:Hemoglobins, Abnormal
Indagini biochimiche e cliniche su due nuovi casi italiani di eterozigosi per l'Hb G-Ferrara.