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Disease relevance of Hemoglobinopathies


High impact information on Hemoglobinopathies

  • In this report we summarize our experience with prenatal diagnosis in 95 pregnancies in which the fetus was at risk for a hemoglobinopathy; the diagnosis was performed with use of DNA polymorphisms located so near the beta-globin gene that they are inherited along with that gene [6].
  • Oxygen transport to and substrate turnover in leg muscle were studied at rest and during light and heavy upright bicycle exercise in two brothers with a hereditary hemoglobinopathy associated with high oxygen affinity (P50 = 13 mmHg) [7].
  • Serial samples from a cohort of multitransfused patients with hemoglobinopathies and a cross-sectional population of pregnant women were tested for B19 markers [8].
  • Related CBT for hemoglobinopathies offers a good probability of success and is associated with a low risk of GVHD [9].
  • These results suggest that strategies designed to antagonize EKLF function in adults with hemoglobinopathy, in an attempt to reactivate gamma-globin gene expression, may adversely affect other essential aspects of red blood cell physiology [10].

Chemical compound and disease context of Hemoglobinopathies

  • Our findings indicate that NaPA and NaPB, both already proven safe and effective in treatment of children with urea cycle disorders, might benefit also patients with severe hemoglobinopathies [11].
  • Butyric acid, a naturally occurring fatty acid, has been shown to increase fetal hemoglobin in BFUe cultures, in primates, and in patients with beta chain hemoglobinopathies [12].
  • The fact that valproic acid, a derivative of pentanoic acid, also induces gamma-globin expression suggests that short-chain fatty acid derivatives that are already approved for human use may possess the property of gamma-globin inducibility and may be of therapeutic relevance to the beta-chain hemoglobinopathies [13].
  • We describe a novel thalassemic hemoglobinopathy caused by a single nucleotide substitution (CTG-->CCG) at codon 114 resulting in a leucine to proline substitution and designate it beta Durham-NC [beta 114 Leu-->Pro] [14].
  • Examination of the proliferative state of the erythropoietic precursors using high specific activity tritium-labeled thymidine revealed that almost none of the cells in normal men or patients with hemoglobinopathies were in the DNA synthetic phase [15].

Biological context of Hemoglobinopathies


Anatomical context of Hemoglobinopathies


Gene context of Hemoglobinopathies


Analytical, diagnostic and therapeutic context of Hemoglobinopathies


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  2. Whole blood tissue factor procoagulant activity is elevated in patients with sickle cell disease. Key, N.S., Slungaard, A., Dandelet, L., Nelson, S.C., Moertel, C., Styles, L.A., Kuypers, F.A., Bach, R.R. Blood (1998) [Pubmed]
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  5. Cyanate-induced cataracts in patients with sickle-cell hemoglobinopathies. Nicholson, D.H., Harkness, D.R., Benson, W.E., Peterson, C.M. Arch. Ophthalmol. (1976) [Pubmed]
  6. Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia. Boehm, C.D., Antonarakis, S.E., Phillips, J.A., Stetten, G., Kazazian, H.H. N. Engl. J. Med. (1983) [Pubmed]
  7. Tissue oxygenation and muscular substrate turnover in two subjects with high hemoglobin oxygen affinity. Wranne, B., Berlin, G., Jorfeldt, L., Lund, N. J. Clin. Invest. (1983) [Pubmed]
  8. Persistent B19 infection in immunocompetent individuals: implications for transfusion safety. Lefrère, J.J., Servant-Delmas, A., Candotti, D., Mariotti, M., Thomas, I., Brossard, Y., Lefrère, F., Girot, R., Allain, J.P., Laperche, S. Blood (2005) [Pubmed]
  9. Related umbilical cord blood transplantation in patients with thalassemia and sickle cell disease. Locatelli, F., Rocha, V., Reed, W., Bernaudin, F., Ertem, M., Grafakos, S., Brichard, B., Li, X., Nagler, A., Giorgiani, G., Haut, P.R., Brochstein, J.A., Nugent, D.J., Blatt, J., Woodard, P., Kurtzberg, J., Rubin, C.M., Miniero, R., Lutz, P., Raja, T., Roberts, I., Will, A.M., Yaniv, I., Vermylen, C., Tannoia, N., Garnier, F., Ionescu, I., Walters, M.C., Lubin, B.H., Gluckman, E. Blood (2003) [Pubmed]
  10. Fetal expression of a human Agamma globin transgene rescues globin chain imbalance but not hemolysis in EKLF null mouse embryos. Perkins, A.C., Peterson, K.R., Stamatoyannopoulos, G., Witkowska, H.E., Orkin, S.H. Blood (2000) [Pubmed]
  11. Enhanced fetal hemoglobin production by phenylacetate and 4-phenylbutyrate in erythroid precursors derived from normal donors and patients with sickle cell anemia and beta-thalassemia. Fibach, E., Prasanna, P., Rodgers, G.P., Samid, D. Blood (1993) [Pubmed]
  12. alpha-Amino butyric acid cannot reactivate the silenced gamma gene of the beta locus YAC transgenic mouse. Pace, B., Li, Q., Peterson, K., Stamatoyannopoulos, G. Blood (1994) [Pubmed]
  13. Stimulation of fetal hemoglobin production by short chain fatty acids. Liakopoulou, E., Blau, C.A., Li, Q., Josephson, B., Wolf, J.A., Fournarakis, B., Raisys, V., Dover, G., Papayannopoulou, T., Stamatoyannopoulos, G. Blood (1995) [Pubmed]
  14. A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype. de Castro, C.M., Devlin, B., Fleenor, D.E., Lee, M.E., Kaufman, R.E. Blood (1994) [Pubmed]
  15. Circulating erythropoietic precursors assessed in culture: characterization in normal men and patients with hemoglobinopathies. Ogawa, M., Grush, O.C., O'Dell, R.F., Hara, H., MacEachern, M.D. Blood (1977) [Pubmed]
  16. DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up. Bhardwaj, U., Zhang, Y.H., Jackson, D.S., Buchanan, G.R., Therrell, B.L., McCabe, L.L., McCabe, E.R. J. Pediatr. (2003) [Pubmed]
  17. Detection of point mutations associated with genetic diseases by an exon scanning technique. Kaufman, D.L., Ramesh, V., McClatchey, A.I., Menkes, J.H., Tobin, A.J. Genomics (1990) [Pubmed]
  18. Hydroxamide derivatives of short-chain fatty acid have erythropoietic activity and induce gamma gene expression in vivo. Cao, H., Jung, M., Stamatoyannopoulos, G. Exp. Hematol. (2005) [Pubmed]
  19. Mixed chimerism following in utero hematopoietic stem cell transplantation in murine models of hemoglobinopathy. Hayashi, S., Abdulmalik, O., Peranteau, W.H., Ashizuka, S., Campagnoli, C., Chen, Q., Horiuchi, K., Asakura, T., Flake, A.W. Exp. Hematol. (2003) [Pubmed]
  20. Beta-globin haplotypes from blood spots for follow-up of newborn hemoglobinopathy screening. Hiti, A.L., Zeng, L., Xiang, Q., Lorey, F.W., Powars, D.R. Am. J. Hematol. (1997) [Pubmed]
  21. Bone marrow scan evaluation of arthropathy in sickle cell disorders. Alavi, A., Schumacher, H.R., Dorwart, B., Kuhl, D.E. Arch. Intern. Med. (1976) [Pubmed]
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  28. A single-base change at position -175 in the 5'-flanking region of the G gamma-globin gene from a black with G gamma-beta+ HPFH. Surrey, S., Delgrosso, K., Malladi, P., Schwartz, E. Blood (1988) [Pubmed]
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  30. Resistance to recombinant erythropoietin in a hemodialysis patient with heterozygous hemoglobinopathy J-Meinung. Tarng, D.C., Chang, J.G., Huang, T.P. Am. J. Kidney Dis. (1997) [Pubmed]
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