Hb Tampa | beta79(EF3)Asp->Tyr |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote and the homozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X moves between Hb S and Hb F | ||
CHROMATOGRAPHY | Hb X was isolated by DEAE-Sephadex chromatography | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by reversed phase HPLC, fingerprinting, and cation exchange chromatography; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GAC->TAC at codon 79 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 6-year-old Caucasian male; both parents have the trait and the child is homozygous for Hb X | ||
OTHER INFORMATION | Quantity in the heterozygote 33% |
REFERENCES | |||
1. | Johnson, M.H., Jue, D.L., Patchen, L.C., Hartwig, E.C., Schneider, M.J., and Moo-Penn, W.F.: Biochim. Biophys. Acta, 623:119, 1980. |