| Hb Mequon | beta41(C7)Phe->Tyr |
|---|
| 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. | ||