Molecular interactions between Hb α-G Philadelphia, HbC, and HbS: Phenotypic implications for SC α-G Philadelphia disease

Blood

Volumn 90, Issue 7, 1997, Pages 2819-2825

  Lawrence, Christine ^a,b   Hirsch, Rhoda Elison ^a   Fataliev, Nazim A ^a   Patel, Snehal ^a   Fabry, Mary E ^a   Nagel, Ronald L ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b JACOBI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; HEMOGLOBIN A; HEMOGLOBIN C; HEMOGLOBIN S;

ADULT; ARTICLE; BINDING SITE; CASE REPORT; DISEASE COURSE; HEMOGLOBIN ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MOLECULAR INTERACTION; PHENOTYPE; PHILADELPHIA 1 CHROMOSOME; POLYMERIZATION; PRIORITY JOURNAL;

EID: 0030828368     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v90.7.2819.2819_2819_2825     Document Type: Article

References (33)

1. Itano HA: Third abnormal hemoglobin associated with hereditary hemolytic anemia. Proc Natl Acad Sci USA 37:775, 1951
2. Diggs LW, Kraus AP, Morrison DB, Rudnicki RPT: Intraerythrocytic crystals in a white patient with hemoglobin C in the absence of other types of hemoglobin. Blood 9:1172, 1954
3. Kraus AP, Diggs LW: In vitro crystallization of hemoglobin occurring in citrated blood from patients with hemoglobin C. J Lab Clin Med 47:700, 1956
4. Charache S, Conley CL, Waugh DF, Ugoretz RJ, Spurrell JR: Pathogenesis of hemolytic anemia in homozygous HbC Disease. J Clin Invest 46:1795, 1967
5. Eaton WA, Hofrichter J: Sickle cell hemoglobin polymerization. Adv Protein Chem 63:279, 1990
6. Adachi K, Asakura T: The solubility of sickle and non-sickle hemoglobins in concentrated phosphate buffer. J Biol Chem 254:4079, 1979
7. Adachi K, Asakura T: Aggregation and crystallization of hemoglobins A, S, and C. J Biol Chem 256:1824, 1981
8. Nagel RL, Lawrence C: The distinct pathobiology of SC disease: Therapeutic implications, in Nagel RL (ed): Hematology/Oncology Clinics of North America, Saunders, Philadelphia, PA, pp 433, 1991
9. Ueda Y, Bookchin RM, Nagel RL: A decreased effect of organic phosphates on hemoglobin S at low concentrations. Biochem Biophys Res Commun 85:526, 1978
10. Elbaum D, Hirsch RE, Nagel RL: Decreased binding of 2,3-diphosphoglycerate to deoxy hemoglobin S: A polymerization independent functional abnormality, in Sigler PB (ed): Molecular Basis of Mutant Hemoglobin Dysfunction. University of Chicago Symposium on Sickle Cell Disease, vol 1. New York, NY, Elsevier, 1981
11. Ueda Y, Nagel RL, Bookchin RM: An increased Bohr effect in sickle cell anemia. Blood 53:472, 1979
12. Hirsch RE, Raventos-Suarez C, Olson JA, Nagel RL: Ligand state of intraerythrocytic circulating HbC crystals in homozygote CC patients. Blood 66:775, 1985
13. Lawrence C, Fabry ME, Nagel RL: The unique red cell heterogeneity of SC disease: Crystal formation, dense reticulocytes and unusual morphology. Blood 78:2104, 1991
14. 6 Glu → Lys) detected by spectroscopic probing. J Biol Chem 271:372, 1996
15. Lin MJ, Nagel RL, Hirsch RE: The acceleration of hemoglobin C crystallization by hemoglobin S. Blood 74:1823, 1989
16. Nagel RL, Lin MJ, Witkowska HE, Fabry ME, Bestak M, Hirsch RE: Compound heterozygosity for hemoglobin C and Korle-Bu: Moderate microcytic hemolytic anemia and acceleration of crystal formation. Blood 82:1907, 1993
17. Hirsch RE, Lin MJ, Nagel RL: The inhibition of HbC crystallization by HbF. J Biol Chem 263:5936, 1988
18. Hirsch RE, Witowska E, Shafer F, Lin MJ, Balazs, T, Bookchin RM and Nagel RL: Compound heterozygosity of HbC/Hb Riyadh and HbC/Hb N-Baltimore and Hb C crystallization. Br J Haematol 97:259, 1997
19. Fitzgerald PMP, Love WE: Structure of deoxy hemoglobin C (β6 Glu → Lys) in two crystal forms. J Mol Biol 132:603, 1979
20. Kutlar F, Kutlar A, Nuguid E, Prchl J, Huisman TH: Usefulness of HPLC methodology for the characterization of combinations of the common beta variants Hbs S. C and O Arab, and the alpha chain variant Hb G-Philadelphia. Hemoglobin 17:55, 1993
21. Higgs DR, Vickers MA, Wilkie ADM, Pretorius IM, Jarman AP, Weatherall DJ: A review of the molecular genetics of the human α-globin gene cluster. Blood 73:1081, 1989
22. Blumenfeld N, Fabry ME, Thysen B, Nagel RL: Red cell density is sex-and race-dependent in the adult. J Lab Clin Med 112:333, 1988
23. Surrey S, Ohene-Frempong K, Rappaport E, Atwater J, Schwartz E: Linkage of alpha G-Philadelphia to alpha-thalassemia in African Americans. Proc Natl Acad Sci USA 77:4885, 1980
24. Fabry ME, Kaul DK, Raventos-Suarez C, Cheng H, Nagel RL: SC erythrocytes have an abnormally high intracellular hemoglobin concentration. J Clin Invest 70:1315, 1982
25. C and HbaG Philadelphia in a family presenting evidence for heterogeneity of hemoglobin alpha chain loci. Am J Med 59:53, 1975
26. Benesch RE, Kwong S, Benesch R, Edalji R: Location and bond type of intermolecular contacts in the polymerisation of haemoglobin S. Nature 269:772, 1977
27. - transport is elevated in oxygenated SS, SC, and CC human red cells. FEBS Lett 200:197, 1986
28. Brugnara C, Kopin AS, Bunn HF, Tosteson DC: Regulation of cation content and cell volume in hemoglobin erythrocytes from patients with homozygous hemoglobin C disease. J Clin Invest 75:1608, 1985
29. Canessa M: Red cell volume-related ion transport systems in hemoglobinopathies. Hematol Oncol Clin North Am 5:495, 1991
30. Embury SH: The interaction of α-thalassemia with sickle cell anemia. Hemoglobin 12:509, 1988
31. Manca L, Demuro P, Masala B: Hb G-Philadelphia, or [alpha 68(E17) Asn → Lys] in North Sardinia. Clin Chim Acta 177:231, 1988
32. Scarratta GV, Sansone G, Ivaldi G, Felice AE, Huisman TH: Alternate organization of alpha G Philadelphia globin genes among U.S. black and Italian Caucasian heterozygotes. Hemoglobin 8:537, 1984
33. Bains RM , Rucknagel DL, Dublin PA Jr, Adams JG III: Trimodality in the proportion of hemoglobin G Philadelphia in heterozygotes: Evidence of heterogeneity in the number of human alpha globin genes. Proc Natl Acad Sci USA 73:3633, 1976