Hb Mizuho | beta68(E12)Leu->Pro |
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CONTACT | Internal | ||
HEMATOLOGY | Severe hemolytic anemia in the heterozygote | ||
ELECTROPHORESIS | No abnormal Hb detected by routine procedures | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | A CTC->CCC mutation at codon 68 (Refs. 3 and 4) | ||
FUNCTION STUDIES | Not determined | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a Japanese girl, an Italian girl, a Caucasian boy from Kentucky, and a Dutch boy; all are de novo mutations | ||
OTHER INFORMATION | Clinical improvement after splenectomy |
REFERENCES | |||
1. | Ohba, Y., Miyaji, T., Matsuoka, M., Sugiyama, K., Suzuki, T., and Sugiura, T.: Hemoglobin, 1:467, 1977. | ||
2. | Labotka, R.J., Vida, L.N., and Honig, G.R.: Hemoglobin, 14:129, 1990. | ||
3. | Keeling, M.M., Bertolone, S.J., Baysal, E., Gu, Y-C., Cepreganova, B., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 15:477, 1991. | ||
4. | Harthoorn-Lasthuizen, E.J., Nabben, F.A.E., Kazanetz, E.G., Gu, L-H., Mol-chanova, T.P., and Huisman, T.H.J.: Hemoglobin, 19:203, 1995. |