Hb Showa-Yakushiji | beta110(G12)Leu->Pro |
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CONTACT | Internal | ||
HEMATOLOGY | Hemolytic anemia with hypochromia and microcytosis; reticulocytosis | ||
ELECTROPHORESIS | No separations reported | ||
CHROMATOGRAPHY | No separations reported | ||
STRUCTURE STUDIES | Not reported; Hb X could not be isolated | ||
DNA ANALYSES | DNA analyses revealed that leucine (CTG) at codon 110 was replaced by proline (CCG); this mutation was confirmed by restriction analysis because it created a new recognition site for the Msp I enzyme (CTGG->CCGG) | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Negative | ||
OCCURRENCE | Found in a 55-year-old Japanese female | ||
OTHER INFORMATION | beta-Thalassemic phenotype |
REFERENCES | |||
1. | Kobayashi, Y., Fukumaki, Y., Komatsu, N., Ohba, Y., Miyaji, T., and Miura, Y.: Blood, 70:1688, 1987. | ||
2. | Naritomi, Y., Naito, Y., Nakashima, H., Yokota, E., and Imamura, T.: Hum. Genet., 80:11, 1988. |