Hb Mequon | beta41(C7)Phe->Tyr |
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CONTACT | Heme contact | ||
HEMATOLOGY | Severe hemolytic crisis during viral infection; treated with acetaminophen; Heinz bodies present at this time; past general health excellent; macrocytosis and reticulocytosis | ||
ELECTROPHORESIS | No separation reported | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation TTC->TAC at codon 41 | ||
FUNCTION STUDIES | Normal | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a female of English-Irish extraction | ||
OTHER INFORMATION | Quantity in the heterozygote ~40-50% by amino acid analysis |
REFERENCES | |||
1. | Burkert, L.B., Sharma, V.S., Pisciotta, A.V., Ranney, H.M., and Bruckheimer, S.: Blood, 48:645, 1976. |