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| ALSO KNOWN AS | |
Gifu | |
| CONTACT | |
2,3-DPG pocket | |
| HEMATOLOGY | |
Normal in the heterozygote and presumably also in the homozygote | |
| ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH; Hb X moves like Hb S or slightly faster | |
| CHROMATOGRAPHY | |
Hb X was isolated by DEAE-Sephadex chromatography; Hb X and Hb A also separate by cation exchange HPLC | |
| STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by reversed phase HPLC or by fingerprinting; amino acid analysis | |
| DNA ANALYSES | |
Not reported; presumed mutation AAC->AAA or AAG at codon 80 | |
| FUNCTION STUDIES | |
Normal | |
| STABILITY | |
Normal | |
| OCCURRENCE | |
Found in a Chinese family from Taiwan; a Jewish family of Turkish extraction; in members of an English family; a Spanish family, and a Sicilian family | |
| OTHER INFORMATION | |
Quantity in the heterozygote 36-40%; homozygote also suffered from abetalipoproteinemia; occurs together with beta-thal | |
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| REFERENCES |
| 1. | |
Blackwell, R.Q., Yang, H.J., and Wang, C.C.: Biochim. Biophys. Acta, 188:59, 1969. | |
| 2. | |
Kaufman, S., Leiba, H., Clejan, L., Wallis, K., Lorkin, P.A., and Lehmann, H.; Hum. Hered., 25:60, 1975. | |
| 3. | |
Schiliro, G., Russo-Mancusso, G., Dibenedetto, S.P., Samperi, P., Di Cataldo, A., Ragusa, R., and Testa, R.: Hemoglobin, 15:431, 1991. | |