Hb Hope [β136(H14)Gly→Asp (GGT→GAT)]: Interactions with Hb S [β6(A3)Glu→Val (GAG→GTG)], other variant hemoglobins and thalassemia

Hemoglobin

Volumn 28, Issue 4, 2004, Pages 277-285

  Ingle, John ^b   Adewoye, Adeboye ^b   Dewan, Robert ^b   Okoli, Michael ^b   Rollins, Lamarr ^b   Eung, Shawn H ^b   Luo, Hong Yuan ^b   Chui, David H K ^b   Steinberg, Martin H ^a  

^a BOSTON MEDICAL CENTER   (United States)

^b NONE

Author keywords

Hemoglobin (Hb) diagnostics; Mildly unstable Hb; Reduced oxygen affinity

Indexed keywords

HEMOGLOBIN S; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

AGAR GEL ELECTROPHORESIS; AMINO ACID SUBSTITUTION; ETHNIC DIFFERENCE; FAMILY STUDY; GENE INTERACTION; GENE MUTATION; GENETIC ANALYSIS; GLOBIN GENE; HEMOGLOBIN HOPE; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ISOELECTRIC FOCUSING; MOLECULAR GENETICS; MOLECULAR STABILITY; OXYGEN AFFINITY; REVIEW; SICKLE CELL TRAIT; THALASSEMIA; ETHNIC GROUP; GENETICS; METABOLISM;

ETHNIC GROUPS; HEMOGLOBIN, SICKLE; HEMOGLOBINS, ABNORMAL; HUMANS; THALASSEMIA;

EID: 9644289256     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-200037801     Document Type: Review

References (28)

1. Minnich V, Hill RJ, Khuri PD, Andersen ME. Hemoglobin Hope: a β chain variant. Blood 1965; 25(5):830-838.
2. Hardison RC, Chui DHK, Riemer CR, Miller W, Carver MFH, Molchanova TP, Efremov GD, Huisman THJ. Access to A Syllabus of Human Hemoglobin Variants (1996) via the world wide web. Hemoglobin 1998; 22(2):113-127 (http://globin. cse.psu.edu).
3. Huisman THJ, Carver MFH, Efremov GD. A Syllabus of Human Hemoglobin Variants (Second Edition). Augusta: The Sickle Cell Anemia Foundation, 1998.
4. Ducrocq R, Bevier A, Leneveu A, Maier-Redelsperger M, Bardakdjian-Michau J, Badens C, Elion J. Compound heterozygosity Hb S/Hb Hope (β136 Gly→Asp): a pitfall in the newborn screening for sickle cell disease. J Med Screen 1998; 5(1):27-30.
5. Ducrocq R, Pascaud O, Bevier A, Finet C, Benkerrou M, Elion J. Strategy linking several analytical methods of neonatal screening for sickle cell disease. J Med Screen 2001; 8(1):8-14.
6. De Jong WWW, Bernini LF. Hemoglobin Babinga (5136 glycine→aspartic acid): a new δ chain variant. Nature 1968; 219(161):1360-1362.
7. 2136Gly→Asp observed in the American Negro. Biochim Biophys Acta 1969; 175(1):223-225.
8. Ong C-N, Liau LS, Ong HY. Separation of globins using free zone capillary electrophoresis. J Chromatogr Biomed Appl 1992; 576(2):346-350.
9. Castagnola M, Messana I, Cassiano L, Rabino R, Rossetti DV, Giardina B. The use of capillary electrophoresis for the determination of hemoglobin variants. Electrophoresis 1995; 16(8):1492-1498.
10. Thillet J, Caburi J, Brun B, Cohen-Solal M, Garel MC, Minh MN, Rosa J. Abnormal functional properties of Hb Hope α C2A β 2 (H14)Gly→Asp: a low oxygen affinity hemoglobin with decreased DPG effect. FEBS Lett 1974; 47(1):47-52.
11. Steinberg MH, Lovell WJ, Wells S, Coleman M, Dreiling BJ, Adams JG. Hemoglobin Hope: studies of oxygen equilibrium in heterozygotes, hemoglobin S-Hope disease, and isolated hemoglobin hope. J Lab Clin Med 1976; 88(1):125-131.
12. Harano T, Harano K, Ueda S, Shibata S, Imai K, Nakai T. Hb Hope [β136(H14)Gly→Asp] in a Japanese family. Hemoglobin 1983; 7(3):263-265.
13. Enoki Y, Ohga Y, Furukawa K, Takaya A, Sakata S, Kohzuki H, Shimizu S, Tsujii T. Hb Hope, β136(H14)Gly→Asp, in a diabetic Japanese female and its functional characterization. Hemoglobin 1989; 13(1):17-32.
14. + thalassemia. J Lab Clin Med 1979; 93(2):316-320.
15. Rahbar S, Nozari G, Asmerom Y, Martin PA, Yeh CH, Lee TD. Association of Hb Hope [β136(H14)Gly→Asp] and α-thalassemia-2 (3.7 kb deletion) causing severe microcytic anemia. Hemoglobin 1992; 16(5):421-425.
16. Svasti S, Yodsowon B, Sriphanich R, Winichagoon P, Boonkhan P, Suwanban T, Sawangareetrakul P, Srisomsap C, Ketudat-Cairns JR, Svasti J, Fucharoen S. Association of Hb Hope [β136(H14)Gly→Asp] and Hb H disease. Hemoglobin 2001; 25(5):429-435.
17. Perutz MF, Lehmann H. Molecular pathology of human haemoglobin. Nature 1968; 219(157):902-909.
18. 2(136-Gly→Asp)-S disease: clinical and biochemical studies. J Lab Clin Med 1974; 84(5):632-642.
19. Hubbard M, Wilson JB, Wrightstone RN, Efremov GD, Huisman THJ. Hb Camden and Hb Hope found during routine testing. Acta Haematol 1975; 54(1):53-58.
20. Moo-Penn W, Jue D, George B, Ramsey N, Schmidt RM. Hemoglobin Hope: β136(H13)Gly→Asp in Georgia. Am J Clin Pathol 1975; 63(1):87-90.
21. Martinez G, Colombo B. Interaction between Hb S and Hb Hope in a Cuban family. Hemoglobin 1984; 8(5):519-522.
22. Deyde VM, Lo BB, Aw T, Fattoum S. HbHope/HbS and HbS/β-thalassemia double compound heterozygosity in a Mauritanian family: clinical and biochemical studies. Ann Hematol 2003; 82(7):423-426.
23. Sicard D, Lieurzou Y, Lapoumeroulie C, Labie D. High genetic polymorphism of hemoglobin disorders in Laos. Complex phenotypes due to associated thalassemic syndromes. Hum Genet 1979; 50(3):327-336.
24. Sicard D, Kaplan JC, Labie D. Haemoglobinopathies and G-6-PD deficiency in Laos. Lancet 1978; 2(8089):571-572.
25. Pillers DM, Jones M, Head C, Jones RT. Hb Hope [β136(H14) Gly→Asp] and Hb E [β26(B8)Glu→Lys]: compound heterozygosity in a Thai Mien family. Hemoglobin 1992; 16(1):81-84.
26. Glu→Lys). J Clin Invest 1981; 68(1):118-126.
27. Bunn HF. Subunit assembly of hemoglobin: an important determinant of hematologic phenotype. Blood 1987; 69(1):1-6.
28. Mrabet NT, McDonald MJ, Turci S, Sarkar R, Szabo A, Bunn HF. Electrostatic attraction governs the dimer assembly of human hemoglobin. J Biol Chem 1986; 261(11):5222-5228.