Classification of the disorders of hemoglobin

Cold Spring Harbor Perspectives in Medicine

Volumn 3, Issue 2, 2013, Pages

  Forget, Bernard G ^a   Franklin Bunn, H ^b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLOBIN; HEMOGLOBIN; HEMOGLOBIN VARIANT; OXYGEN;

CHEMISTRY; CLASSIFICATION; GENETICS; HEMOGLOBINOPATHY; HUMAN; INTELLECTUAL IMPAIRMENT; METABOLISM; MUTATION; MYELODYSPLASTIC SYNDROME; PHENOTYPE; PHYSIOLOGY; PROTEIN SYNTHESIS; REVIEW; SICKLE CELL ANEMIA; THALASSEMIA;

ANEMIA, SICKLE CELL; GLOBINS; HEMOGLOBINOPATHIES; HEMOGLOBINS; HEMOGLOBINS, ABNORMAL; HUMANS; INTELLECTUAL DISABILITY; MUTATION; MYELODYSPLASTIC SYNDROMES; OXYGEN; PHENOTYPE; PROTEIN BIOSYNTHESIS; THALASSEMIA;

MLCS; MLOWN;

EID: 84878982472     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a011684     Document Type: Article

References (24)

1. Adachi K., Yamaguchi T, Pang J, Surrey S. 1998. Effects of increased anionic charge in the β-globin chain on assembly of hemoglobin in vitro. Blood 91: 1438-1445.
2. Adams J.D., Coleman MB, Hayes J, Morrison WT, Steinberg MH. 1985. Modulation of fetal hemoglobin synthesis by iron deficiency. N Engl J Med 313: 1402-1405.
3. Bunn HF. 1987. Subunit assembly of hemoglobin: An important determinant of hematologic phenotype. Blood 69: 1-6.
4. Bunn H.F., McDonald MJ. 1983. Electrostatic interactions in the assembly of haemoglobin. Nature 306: 498-500.
5. Bunn H.F., Noguchi CT, Hofrichter J, Schechter GP, Schechter A.N., Eaton WA. 1982. Molecular and cellular pathogenesis of hemoglobin SC disease. Proc Natl Acad Sci 79: 7527-7531.
6. Chui D.H., Patterson M, Dowling CE, Kazazian HJ, Kendall AG. 1990. Hemoglobin Bart's disease in an Italian boy. Interaction between α-thalassemia and hereditary persistence of fetal hemoglobin. N Engl J Med 323: 179-182.
7. Dailey H.A., Meissner PN. 2013. Erythroid heme biosynthesis and its disorders. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect.a011676.
8. Feng L., Gell DA, Zhou S, Gu L, Kong Y, Li J, Hu M, Yan N, Lee C., Rich AM, et al. 2004. Molecular mechanism of AHSP-mediated stabilization of α-hemoglobin. Cell 119: 629-640.
9. Fucharoen S., Weatherall DJ. 2012. The hemoglobin E thalassemias. Cold Spring Harb Perspect Med 2: a011734.
10. Higgs DR. 2013. The molecular basis of α-thalassemia. Cold Spring Harb Perspect Med 3: a011718.
11. Kihm A.J., Kong Y, Hong W, Russell JE, Rouda S, Adachi K, Simon M.C., Blobel GA, Weiss MJ. 2002. An abundant erythroid protein that stabilizes free α-haemoglobin. Nature 417: 758-763.
12. Lettre G. 2012. The search for genetic modifiers of disease severity in the β-hemoglobinopathies. Cold Spring Harb Perspect Med 2: a015032.
13. Mollan T.L., Yu X, Weiss MJ, Olson JS. 2010. The role of αhemoglobin stabilizing protein in redox chemistry, denaturation, and hemoglobin assembly. Antioxid Redox Signal 12: 219-231.
14. Mollan T.L., Khandros E, Weiss MJ, Olson JS. 2012. The kinetics of α-globin binding to α hemoglobin stabilizing protein (AHSP) indicate preferential stabilization of a hemichrome folding intermediate. J Biol Chem 287: 11338-11350.
15. Mrabet N.T., McDonald MJ, Turci S, Sarkar R, Szabo A, Bunn HF. 1986. Electrostatic attraction governs the dimer assembly of human hemoglobin. J Biol Chem 261: 5222-5228.
16. Musallam K.M., Tahar AT, Rachmilewitz EA. 2012. β-Thalassemia intermedia: A clinical perspective. Cold Spring Harb Perspect Med 2: a013482.
17. Nagel R.L., Daar S, Romero JR, Suzuka SM, Gravell D, Bouhassira E., Schwartz RS, Fabry M, Krishnamoorthy R. 1998. HbS-Oman heterozygote: A new dominant sickle syndrome. Blood 92: 4375-4382.
18. NienhuisAW, NathanDG. 2012. Pathophysiology and clinical manifestations of the β-thalassemias. Cold Spring Harb PerspectMed 2: a011726.
19. Sankaran V.G., Orkin SH. 2013. The switch from fetal to adult hemoglobin. Cold Spring Harb Perspect Med 3: a011643.
20. Schechter AN. 2013. Hemoglobin function. Cold Spring Harb Perspect Med 3: a011650.
21. Schechter A.N., Elion J. 2013. Pathophysiology of sickle cell disease. Cold Spring Harb Perspect Med (to be published).
22. Serjeant G. 2013. Natural history of sickle cell disease. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect. a011783.
23. Thein SL. 2013. Molecular basis of β-thalassemia. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect. a011700.
24. Thom C.S., Dickson CF, Gell DA, Weiss MJ. 2013. Hemoglobin variants: Biochemical properties and clinical correlates. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect. a011858.