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ALSO KNOWN AS | |
J-Trinidad; J-Ireland; N-New Haven; J-Georgia | |
CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves faster than Hb A on paper and starch gel at alkaline pH; Hb X moves as Hb S on citrate agar at pH 5.9; excellent separation by IEF | |
CHROMATOGRAPHY | |
Hb X and Hb A can be separated by cation and anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; fingerprinting; cation exchange chromatography; reversed phase HPLC; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation GGC->GAC at codon 16 | |
FUNCTION STUDIES | |
Normal | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in Black, English, Dutch, French, Swedish, and Spanish families; sometimes together with Hb S or with beta-thal | |
OTHER INFORMATION | |
Quantity in heterozygotes 40-45% | |
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REFERENCES |
1. | |
Baglioni, C. and Weatherall, D.J.: Biochim. Biophys. Acta, 87:637, 1963. | |
2. | |
Wong, S.C., Bouver, N., Wilson, J.B., and Huisman, T.H.J.: Clin. Chim. Acta, 16:368, 1971. | |
3. | |
Landin, B. and Jeppsson, J-O.: Hemoglobin, 17:303, 1993. | |
4. | |
Arribalzaga, K., Ricard, M.P., Carreño, D.L., Sanchez, J., Gonzalez, A., Ropero, P., and Villegas, A.: Hemoglobin, 20:79, 1996. | |