Hb South Milwaukee | beta105(G7)Leu->Phe |
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CONTACT | Internal | ||
HEMATOLOGY | Erythrocytosis in the heterozygote | ||
ELECTROPHORESIS | No separation by standard procedures or IEF | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX+betaA chains; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation CTC->TTC at codon 105 | ||
FUNCTION STUDIES | Increased oxygen affinity; normal Bohr effect; decreased cooperativity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in 15 members of a family of English ancestry | ||
OTHER INFORMATION | Some carriers require phlebotomy to relieve symptoms of chest pain, dizziness, and fatigue |
REFERENCES | |||
1. | Honig, G.R., Vida, L.N., Latorraca, R., and Divgi, A.B.: Am. J. Hematol., 34:199, 1990. |