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| CONTACT | |
External | |
| HEMATOLOGY | |
Normal in the heterozygote; hemolytic anemia of varying degrees in homozygotes; painful vasoocclusive episodes; leg ulcers; jaundice, stroke, congestive heart failure; meningitis; lowered resistance to salmonella and pneumococcus organisms | |
| ELECTROPHORESIS | |
Hb S and Hb A can readily be separated at both alkaline and acidic pH | |
| CHROMATOGRAPHY | |
Hb S and Hb A separate by both cation and anion exchange chromatography | |
| STRUCTURE STUDIES | |
Tryptic digestion; fingerprinting; cation exchange chromatography; amino acid analysis; sequencing; HPLC | |
| DNA ANALYSES | |
A GAG->GTG mutation at codon 6 | |
| FUNCTION STUDIES | |
Normal | |
| STABILITY | |
Normal; in the deoxy form Hb S precipitates, particularly at higher salt concentrations | |
| OCCURRENCE | |
Heterozygotes and homozygotes found in many ethnic groups but predominantly in the Black race and in some Indian tribes | |
| OTHER INFORMATION | |
Hb S is the most studied Hb variant; relevant information can be found in all hematological text books and in many monographs; some are listed below | |
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| REFERENCES |
| 1. | |
Bunn, H.F. and Forget, B.G.: Hemoglobin: Molecular, Genetic and Clinical Aspects, W.B. Saunders Company, Philadelphia, 1986. | |
| 2. | |
Huisman, T.H.J., editor: The Hemoglobinopathies, Methods in Hematology, Vol. 15, Churchill Livingstone, Edinburgh, 1986. | |
| 3. | |
Weatherall, D.J. and Higgs, D.R., editors: The Haemoglobinopathies, Bailliere's Clinical Haematology, Vol. 6, W.B. Saunders Company, London, 1993. | |
| 4. | |
Embury, S.H., Hebbel, R.P., Mohandas, N., and Steinberg, M.H., editors: Sickle Cell Disease, Basic Principles and Clinical Practice, Raven Press, New York, 1994. | |
| 5. | |
Miller, D.R. and Baehner, R.L., editors: Blood Diseases of Infancy and Childhood, 7th edition, Mosby-Year Book, Inc., St. Louis, MO, 1995. | |