A Swiss family with hemoglobin P Galveston beta117His leads to Arg, including two patients with hb P/beta thalassemia.
The mutant Hb P Galveston (beta117His leads to Arg) is observed in two heterozygotes for beta thalassemia and by itself does not cause clinical symptoms. Some of the physico-chemical properties of Hb P Galveston are identical to the onemical properties of Hb P Galveston are identical to the ones hemoglobin Zurich (beta 63 His leads to Arg) so that only a detailed analysis led to its proper identification.
D000595:Amino Acid Sequence; D005319:Fetal Hemoglobin / Q000032:analysis; D006453:Hemoglobinopathies / Q000150:complications / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010375:Pedigree; D013557:Switzerland; D013789:Thalassemia / Q000150:complications*
D006455:Hemoglobins, Abnormal; D005319:Fetal Hemoglobin