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| ALSO KNOWN AS | |
M-Akita | |
| CONTACT | |
Heme contact; proximal histidine | |
| HEMATOLOGY | |
Hereditary cyanosis (ferriHb) in the heterozygote | |
| ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH; Hb X moves slightly ahead of Hb A2 | |
| CHROMATOGRAPHY | |
Hb X and Hb A can be separated by anion exchange chromatography | |
| STRUCTURE STUDIES | |
Tryptic digestion of the AE-betaX chain; separation of peptides by cation exchange chromatography or by fingerprinting; amino acid analysis; sequencing | |
| DNA ANALYSES | |
Not reported; presumed mutation CAC->TAC at codon 92 | |
| FUNCTION STUDIES | |
Normal oxygen affinity | |
| STABILITY | |
Unstable; dissociation into dimers | |
| OCCURRENCE | |
Found in a Black subject living in the USA, a Japanese family, members of a Yugoslavian family, a Caucasian female of Norwegian-German ancestry as a de novo mutation | |
| OTHER INFORMATION | |
Patients often misdiagnosed as having cyanotic heart disease; quantity in the heterozygote 23-32% | |
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| REFERENCES |
| 1. | |
Heller, P., Coleman, R.D., and Yakulis, V.: J. Clin. Invest., 45:1021, 1966. | |
| 2. | |
Ranney, H.M., Nagel, R.L., Heller, P., and Udem, L.: Biochim. Biophys. Acta, 160:112, 1968. | |
| 3. | |
Shibata, S., Miyaji, T., Iuchi, I., Ohba, Y., and Yamamoto, K.: J. Biochem., 63:193, 1968. | |
| 4. | |
Shibata, S., Yamamoto, K., Ohba, Y., Miyaji, T., Karita, K., and Iuchi, I.: Acta Haematol. Jpn., 32:311, 1969. | |
| 5. | |
Efremov, G.D., Huisman, T.H.J., Stanulovic, M., Zurovec, M., Duma, H., Wilson, J.B., and Jeremic, V.: Scand. J. Haematol., 13:48, 1974. | |
| 6. | |
Stamatoyannopoulos, G., Nute, P.E., Giblett, E., Detter, J., and Chard, R.: J. Med. Genet., 13:142, 1976. | |
| 7. | |
Yamada, T., Marini, C.P., and Cassatt, J.C., Biochemistry, 17:231, 1978. | |