|
|
|
|
| ALSO KNOWN AS | |
D-Punjab; D-North Carolina; D-Portugal; Oak Ridge; D-Chicago | |
| CONTACT | |
External | |
| HEMATOLOGY | |
Normal in heterozygotes and homozygotes | |
| ELECTROPHORESIS | |
Hb X moves slower (like Hb S) than Hb A at alkaline pH; no separation at acidic pH | |
| CHROMATOGRAPHY | |
Hb X and Hb A separate by both cation and anion exchange chromatography | |
| STRUCTURE STUDIES | |
Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting or cation exchange chromatography or reversed phase HPLC; amino acid analysis; sequencing | |
| DNA ANALYSES | |
A GAA->CAA mutation at codon 121 | |
| FUNCTION STUDIES | |
Normal | |
| STABILITY | |
Normal | |
| OCCURRENCE | |
Hb D-Los Angeles is primarily found in Northern India but is wide-spread and has been observed in persons from China, England, Holland, Australia, Greece, Yugoslavia, Turkey, etc. It is the fourth most frequently occurring Hb variant | |
| OTHER INFORMATION | |
Quantity in the heterozygote ~40%; it has been found in combination with Hb S, Hb C, Hb E, beta-thal, alpha-thal, and in the homozygous state | |
|
|
|
|
| REFERENCES |
| 1. | |
Itano, H.: Proc. Natl. Acad. Sci. USA, 37:775, 1951. | |
| 2. | |
Hynes, M. and Lehmann, H.: Br. Med. J., 2:923, 1956. | |
| 3. | |
Baglioni, C.: Biochim. Biophys. Acta, 59:437, 1969. | |
| 4. | |
Bunn, H.F. and Forget, B.G.: Hemoglobin: Molecular, Genetic and Clinical Aspects, W.B. Saunders Company, Philadelphia, 1986. | |
| 5. | |
Huisman, T.H.J., editor: The Hemoglobinopathies, Methods in Hematology, Vol. 15, Churchill Livingstone, Edinburgh, 1986. | |
| 6. | |
Weatherall, D.J. and Clegg, J.B., editors: The Haemoglobinopathies, Bailliere's Clinical Haematology, Vol. 6, W.B. Saunders Company, London, 1993. | |