Hbc compound heterozygotes [HbC/Hb Riyadh and HbC/Hb N-Baltimore] with opposing effects upon HbC crystallization

British Journal of Haematology

Volumn 97, Issue 2, 1997, Pages 259-265

  Hirsch, Rhoda Elison ^a   Witkowska, H Ewa ^b   Shafer, Frank ^b,c   Lin, Margaret J ^a   Balazs, Tatiana C ^a   Bookchin, Robert M ^a   Nagel, Ronald L ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

^c TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

abnormal haemoglobins; haemoglobin crystal; HbS; mass spectrometry; red cells

Indexed keywords

HEMOGLOBIN C; HEMOGLOBIN VARIANT;

ARTICLE; BLOOD CELL COUNT; CASE REPORT; CLINICAL FEATURE; CRYSTALLIZATION; ERYTHROCYTE SHAPE; FAMILY HISTORY; FEMALE; HEMOGLOBIN DETERMINATION; HEMOGLOBINOPATHY; HETEROZYGOTE; HUMAN; INFANT; LABORATORY DIAGNOSIS; NEWBORN SCREENING; PRIORITY JOURNAL;

EID: 0030921083     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1997.432639.x     Document Type: Article

References (28)

1. Adachi, K. & Asakura, T. (1979) The solubility of sickle and non-sickle hemoglobins in concentrated phosphate buffer. Journal of Biological Chemistry, 254, 4079-4084.
2. Asakura, T. & Tamura, M. (1974) Heme spin-label studies of hemoglobin. II. Spin-labeled oxy- and deoxyhemoglobins. Journal of Biological Chemistry, 249, 4504-4509.
3. Bookchin, R.M., Nagel, R.L., Balazs, T. & Harris, J.W. (1974) Hemoglobin N-Baltimore: tendency to crystallize and diminished interaction with deoxyhemoglobin S. Clinical Research, 22, 384A.
4. Bookchin, R.M., Nagel, R.L. & Ranney, H.M. (1967) Structure and properties of hemoglobin C Harlem: a human hemoglobin variant with amino acid substitution in two residues of the β-polypeptide chain. Journal of Biological Chemistry, 242, 248-255.
5. Clark M.R., Mohandas, N., Shohet, S.B., Hosch, R.M. & Rossi, M.E. (1983) Osmotic gradient ektacytometry: comprehensive characterization of red cell volume and surface maintenance. Blood, 61, 899-910.
6. Edelstein, S.J. (1981) Molecular topology in crystals and fibers of HbS. Journal of Molecular Biology, 150, 557-575.
7. Fabry, M.E., Kaul, D.K., Raventos-Suarez, C., Chang, H. & Nagel, R.L. (1982) SC erythrocytes have an abnormally high intracellular hemoglobin concentration. Journal of Clinical Investigation, 70, 1315-1319.
8. Falick, A.M., Witkowska, H.E., Lubin, B.H., Nagel, R.L. & Shackleton, C.H.L. (1991) Identification of variant hemoglobins by tandem mass spectrometry. Techniques in Protein Chemistry II (ed. by J. J. Villafranca). pp. 557-565. Academic Press, San Diego.
9. Hirsch, R.E., Lin, M.J. & Nagel, R.L. (1988) The inhibition of HbC crystallization by HbF. Journal of Biological Chemistry, 263, 5936-5939.
10. Hirsch, R.E., Raventos-Suarez, C., Olson, J.A. & Nagel, R.L. (1985) Ligand state of intraerythrocytic circulating HbC crystals in homozygote CC patients. Blood, 66, 775-777.
11. Johnson, C., Powars, D. & Schroeder, W.A. (1976) A case of both hemoglobin C and N-Baltimore. Acta Haematologica, 56, 183-188.
12. Kuypers, F.A., Chiu, D., Mohandas, N., Roelofsen, B., Op den Kamp, J.A.F. & Lubin, B. (1987) The molecular species composition of phosphatidylcholine affects cellular properties in normal and sickle erythrocytes. Blood, 70, 1111-1118.
13. Kuypers, F.A., Scott, M., Schott, M.A., Lubin, B. & Chiu, D.T. (1990) Use of ektacytometry to determine red cell susceptibility to oxidative stress. Journal of Laboratory and Clinical Medicine, 116, 535-545.
14. Lawrence, C., Fabry, M.E. & Nagel, R.L. (1991) The unique red cell heterogeneity of SC disease: crystal formation, dense reticulocytes and unusual morphology. Blood, 78, 2104-2112.
15. Liu M.J., Nagel, R.L. & Hirsch, R.E. (1989) The acceleration of hemoglobin C crystallization by hemoglobin S. Blood, 74, 1823-1825.
16. Nagel, R.L. & Bookchin, R.M. (1978) Areas of interaction in the HbS polymer. Biological and Clinical Aspects of Hemoglobin Abnormalities (ed. by W. S. Caughey). pp. 195-201. Academic Press, New York.
17. Nagel, R.L., Johnson, J., Bookchin, R.M., Garel, M.C., Rosa, J., Schiliro, G., Wajcman, H., Labie, D., Moo-Penn, W. & Castro, O. (1980) β-chain contact sites in the haemoglobin S polymer. Nature, 283, 832-834.
18. Nagel, R.L. & Lawrence, C. (1991) The distinct pathobiology of sickle cell-hemoglobin C disease. Hematology/Oncology Clinics of North America, 5, 433-451.
19. Nagel, R.L., Lin, M.J., Witkowska, H.E., Fabry, M.E., Bestak, M. & Hirsch, R.E. (1993) Compound heterozygosity for hemoglobin C and Korle-Bu: moderate microcytic hemolytic anemia and acceleration of crystal formation. Blood, 82, 1907-1912.
20. Nagel, R.L., Lynfield, J., Johnson, J., Landau, L., Bookchin, R.M. & Harris, M.B. (1976) Hemoglobin Beth Israel: a new mutant causing clinicially apparant cyanosis. New England Journal of Medicine, 295, 125-130.
21. Padlan, E.A. & Love, W.E. (1985) Refined crystal structure of deoxyhemoglobin S. Journal of Biological Chemistry, 260, 8272-8279.
22. Rose, Z. (1970) Enzymes controlling 2,3-diphosphoglycerate in human erythrocytes. Federation Proceedings, 29, 1105-1111.
23. Sambrook, J., Fritsch, E.F. & Maniatis, T. (1989) Molecular Cloning: a Laboratory Manual. 2nd edn. pp. 9.31-9.62. Cold Spring Harbor Laboratory Press, New York.
24. Shackleton, C.H.L. & Witkowska, H.E. (1994) Mass spectrometry in the characterization of variant hemoglobins. Mass Spectrometry: Clinical and Biomedical Applications (ed. by D. M. Desiderio). pp. 135-199. Plenum Press, New York.
25. 4 column. Journal of Liquid Chromatography, 7, 1969-1977.
26. Watowich, S.J., Gross, L.J. & Josephs, R. (1989) Intermolecular contacts within sickle hemoglobin fibers. Journal of Molecular Biology, 209, 821-828.
27. Watowich, S.J., Gross, L.J. & Josephs, R. (1993) Analysis of the intermolecular contacts within sickle hemoglobin fibers: effect of site-specific substitutions, fiber pitch, and double-stranded disorder. Journal of Structural Biology 111, 161-179.
28. Witkowska, H.E., Bitsch, F. & Shackleton, C.H.L. (1993) Expediting rare variant hemoglobin characterization by combined HPLC/electrospray mass spectrometry. Hemoglobin, 17, 227-242.