Hemoglobin-Strumica or alpha 2 112(G19) His replaced by Arg beta 2. (With an addendum: hemoglobin-J-Paris-I, alpha 2 12(A10) Ala replaced by Asp beta 2, in the same population).
Hemoglobin-Strumica has been observed in five members of a Macedonian family. Histidyl residue in position 112 of the alpha chain of this variant is replaced by an arginyl residue. Two other variants (hemoglobin-Dakar and hemoglobin-Hopkins-2) in which this histidyl residue has been replaced by a glutaminyl and by an aspartyl residue, respectively, have been described (Rosa et al. (1968) 12 thCongr. Int. Soc. Haematol. New York, abstract, p. 73 and Charache, S. and Osterag, W. (1970) Bloodt 36, 852). The hemoglobin-Strumica heterozygotes have minimal hematological changes although this may not necessarily be associated with the hemoglobinopathy. Subjects heterozygous for hemoglobin-Dakar have a mild hemolytic anemia and hemoglobin-Hopkins-2 heterozygotes exhibit minimal hematological changes.
D000293:Adolescent; D000328:Adult; D000409:Alanine; D000595:Amino Acid Sequence; D000596:Amino Acids / Q000032:analysis; D001120:Arginine; D001224:Aspartic Acid; D002648:Child; D005260:Female; D014644:Genetic Variation; D006115:Greece / Q000208:ethnology; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006639:Histidine; D006801:Humans; D008297:Male; D010297:Paris; D010375:Pedigree; D015022:Yugoslavia
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D001224:Aspartic Acid; D006639:Histidine; D001120:Arginine; D000409:Alanine