Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18).
Hemoglobin-A2-Coburg or alpha2delta2-116 Arg leads to His (G18) has been found in members of a family of Sicilian origin. The propositus is heterozygous for hemoglobin-A2-Coburg as well as for beta-thalassemia, and family data indicate that the gene for the delta-Coburg chain is in trans of the beta-thalassemia determinant.
D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000032:analysis; D002845:Chromatography; D004200:Diseases in Twins; D004592:Electrophoresis, Starch Gel; D005260:Female; D005796:Genes; D006453:Hemoglobinopathies / Q000097:blood / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000235:genetics; D014357:Trypsin
D000596:Amino Acids; D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; D014357:Trypsin