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| ALSO KNOWN AS | |
Drenthe | |
| CONTACT | |
Internal | |
| HEMATOLOGY | |
Chronic hemolytic anemia with Heinz bodies, anisocytosis, polycythemia, and basophilic stippling | |
| ELECTROPHORESIS | |
Hb X and Hb A do not separate at alkaline or acidic pH; zone free alpha chains observed | |
| CHROMATOGRAPHY | |
Not reported | |
| STRUCTURE STUDIES | |
pCMB isolation; tryptic digestion; fingerprinting; cation exchange chromatography; amino acid analysis; thermolysin digestion; sequencing | |
| DNA ANALYSES | |
Not reported; presumed mutation GCC->GAC at codon 27 | |
| FUNCTION STUDIES | |
Not performed | |
| STABILITY | |
Unstable | |
| OCCURRENCE | |
Found in a 16-year-old Russian male but not in his parents or sister; six members of a Dutch family, and in a 4-year-old Egyptian male | |
| OTHER INFORMATION | |
Quantity in the heterozygote ~30% (based on heat denaturation data); splenectomy appears to be beneficial | |
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| REFERENCES |
| 1. | |
Idelson, L.I., Didkowsky, N.A., Filippova, A.V., Casey, R., Kynoch, P.A.M., and Lehmann, H.: FEBS Lett., 58:122, 1975. | |
| 2. | |
Kuis-Reerink, J.D., Jonxis, J.H.P., Niazi, G.A., Wilson, J.B., Bolch, K.C., Gravely, M., and Huisman, T.H.J.: Biochim. Biophys. Acta, 439:63, 1976. | |
| 3. | |
Brennan, S.O., Ekert, H., Tauro, G., and Carrell, R.W.: N.Z. Med. J., 83:162, 1976. | |