Hemoglobin Bethesda, beta 145 (HC2) Tyr replaced by His, in a Canadian family.
A hemoglobin mutant with the mobility of hemoglobin (Hb) A on alkaline cellulose acetate or starch gel electrophoresis and mobility between Hb A and Hb S on citrate agar electrophoresis was detected in a patient with erythrocytosis. Structural analysis shows a substitution of histidine by tyrosine at position 145 in the beta-chain.
D000328:Adult; D000596:Amino Acids / Q000032:analysis; D002170:Canada; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D008297:Male; D008396:Maryland; D010375:Pedigree; D011086:Polycythemia / Q000097:blood* / Q000235:genetics
D000596:Amino Acids; D006455:Hemoglobins, Abnormal