Hb Moabit | alpha86(F7)Leu->Arg |
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CONTACT | Heme contact | ||
HEMATOLOGY | Mild hemolytic anemia in the heterozygote; reticulocytosis | ||
ELECTROPHORESIS | Hb X moves slightly faster than Hb S on starch block at alkaline pH | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CTG->CGG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Decreased oxygen affinity | ||
STABILITY | Unstable; the Leu->Arg replacement occurs next to the heme binding proximal histidine, greatly affecting the stability of the protein | ||
OCCURRENCE | Found in a Turkish male | ||
OTHER INFORMATION | Quantity in the heterozygote was estimated at about ~15% |
REFERENCES | |||
1. | Knuth, A., Pribilla, W., Marti, H.R., and Winterhalter, K.H.: Acta Haematol., 61: 121, 1979. |