Hb J-Habana | alpha71(E20)Ala->Glu |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | This fast-moving variant separates from Hb A at alkaline pH; Hb X moves to the position of Hb J-Baltimore on paper | ||
CHROMATOGRAPHY | Hb X was isolated on a DEAE-Sephadex column | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting and reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GCG->GAG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a Cuban family and a few Japanese families | ||
OTHER INFORMATION | Quantity in heterozygotes ~20% |
REFERENCES | |||
1. | Colombo, B., Vidal, H., Kamuzora, H., and Lehmann, H.: Biochim. Biophys. Acta, 351:1, 1974. | ||
2. | Ohba, Y., Yoshinaka, H., Hattori, Y., Matsuoka, M., and Miyaji, T.: Hemoglobin, 7:327, 1983. | ||
3. | Hidaka, K., Iuchi, I., Shimasaki, S., Mizuta, W., Takatsuka, M., Mori, T., Tohdoh, A., and Matsuo, M.: Hemoglobin, 10:65, 1986. |