Hb Savaria | alpha49(CE7)Ser->Arg |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline and acidic pH; Hb X moves as Hb S on starch gel | ||
CHROMATOGRAPHY | Hb X separates from Hb A by anion exchange chromatography | ||
STRUCTURE STUDIES | Tryptic digestion; the peptides were separated by fingerprinting; reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation AGC->CGC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Normal oxygen affinity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in Hungarian, Yugoslavian, and Kenyan families | ||
OTHER INFORMATION | Quantity in heterozygotes 22-23% |
REFERENCES | |||
1. | Szelényi, J.G., Horányi, M., Földi, J., Hudacsek, J., István, L., and Hollán, S.R.: Hemoglobin, 4:27, 1980. | ||
2. | Juricic, D., Efremov, G.D., Wilson, J.B., and Huisman,T.H.J.: Hemoglobin, 9: 631, 1985. |