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CONTACT | |
Central cavity | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves slightly anodal to Hb A on starch gel at alkaline pH; Hb X moves as Hb S on citrate agar at acidic pH | |
CHROMATOGRAPHY | |
Hb X and Hb A can be separated by both cation and anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis | |
DNA ANALYSES | |
An AGC->CGC mutation was found in codon 102 of the alpha2 gene; an AGC->AGA mutation was also found in codon 102 of the alpha1 gene (Ref. 4) | |
FUNCTIONAL STUDIES | |
Not reported | |
STABILITY | |
Slightly unstable; decreased dissociation; forms hybrids | |
OCCURRENCE | |
Found in a few British, German-Irish, and Italian families | |
OTHER INFORMATION | |
Quantity in the heterozygote: 19% alpha2 mutant; 24% alpha1 mutant | |
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REFERENCES |
1. | |
Crookston, J.H., Farquharson, H.A., Kinderlerer, J.L., and Lehmann, H.: Can. J. Biochem., 48:911, 1970. | |
2. | |
Wrightstone, R.N., Smith, L.L., Wilson, J.B., Vella, F., and Huisman, T.H.J.: Biochim. Biophys. Acta, 412:283, 1975. | |
3. | |
Sciarratta, G.V., Ivaldi, G, Molaro, G.L., Sansone, G., Salkie, M.L., Wilson, J.B., Reese, A.L., and Huisman, T.H.J.: Hemoglobin, 8:169, 1984. | |
4. | |
Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | |