A rare example that coinheritance of a severe form of β-thalassemia and α-thalassemia interact in a "synergistic" manner to balance the phenotype of classic thalassemic syndromes

Blood Cells, Molecules, and Diseases

Volumn 32, Issue 2, 2004, Pages 319-324

  Kanavakis, Emmanuel ^a   Traeger Synodinos, Joanne ^a   Lafioniatis, Stelios ^b   Lazaropoulou, Christina ^c   Liakopoulou, Theodora ^b   Paleologos, George ^c   Metaxotou Mavrommati, Anna ^a   Stamoulakatou, Alexandra ^c   Papassotiriou, Ioannis ^a  

^a UNIVERSITY OF ATHENS   (Greece)

^b Achillopouleion General Hospital Of Volos   (Greece)

^c AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

Erythropoiesis; Hb H disease; Thalassemia major

Indexed keywords

2,3 DIPHOSPHOGLYCERIC ACID; ALPHA GLOBIN; ALPHA TOCOPHEROL; ERYTHROPOIETIN; GLUTATHIONE; GLUTATHIONE DISULFIDE; HEMOGLOBIN; MALONALDEHYDE; RETINOL; TRANSFERRIN; TRANSFERRIN RECEPTOR;

ADULT; ALPHA THALASSEMIA; ANEMIA; ARTICLE; BETA THALASSEMIA; CASE REPORT; CHEMICAL ANALYSIS; DISEASE CLASSIFICATION; DISEASE SEVERITY; ERYTHROPOIESIS; FOLLOW UP; GENETIC DISORDER; HEMATOCRIT; HEMATOLOGICAL PARAMETERS; HEMOGLOBIN DETERMINATION; HUMAN; LABORATORY TEST; MALE; OXIDATIVE STRESS; OXYGEN TENSION; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SPLENECTOMY; SYMPTOMATOLOGY;

ALPHA-THALASSEMIA; ANEMIA; BETA-THALASSEMIA; ERYTHROPOIESIS; FAMILY HEALTH; FATIGUE; HEMATOLOGIC TESTS; HUMANS; MALE; MIDDLE AGED; OXIDATIVE STRESS; PHENOTYPE; SPLENECTOMY;

EID: 1542330831     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2003.12.005     Document Type: Article

References (25)

1. Weatherall D.J. Single gene disorders or complex traits: lessons from the thalassemias and other monogenic diseases. Br. Med.J. 321:2000;1117-1120.
2. Kanavakis E., Papassotiriou I., Karagiorga M., Vrettou C., Metaxotou-Mavrommati A., Stamoulakatou A., Kattamis C., Traeger-Synodinos J. Phenotypic and molecular diversity of hemoglobin H disease: a Greek experience. Br. J. Haematol. 111:2000;915-923.
3. Chui D.H., Fucharoen S., Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 101:2003;791-800.
4. Kanavakis E., Wainscoat J.S., Wood W.G., Weatherall D.J., Cao A., Furbetta M., Galanello R., Georgiou D., Sophocleous T. The interaction of α thalassemia with heterozygous β thalassaemia. Br. J. Haematol. 52:1982;465-473.
5. Wainscoat J.S., Kanavakis E., Wood W.G., Letsky E.A., Huehns E.R., Marsh G.W., Higgs D.R., Clegg J.B., Weatherall D.J. Thalassemia intermedia in Cyprus: the interaction of α and β thalassemia. Br. J. Haematol. 53:1983;411-416.
6. 0-thalassemia with single functional α-globin gene. Am. J. Hematol. 29:1988;63-66.
7. Baysal E., Kleanthous M., Bozkurt G., Kyrri A., Kalogirou E., Agastiniotis M., Ioannou P., Huisman T.H.J. α-Thalassemia in the population of Cyprus. Br. J. Haematol. 89:1995;496-499.
8. 0/+-thalassemia homozygosity. Eur. J. Hum. Genet. 7:1999;163-168.
9. Traeger-Synodinos J., Papassotiriou I., Vrettou C., Skarmoutsou C., Stamoulakatou A., Kanavakis E. Erythroid marrow activity and functional anemia in patients with the rare interaction of a single functional α-globin and β-globin gene. Haematologica. 86:2001;363-367.
10. Loukopoulos D., Loutradi A., Fessas Ph. A unique thalassemic syndrome: homozygous α-thalassemia plus homozygous β-thalassemia. Br. J. Haematol. 39:1978;377-389.
11. Furbetta M., Galanello R., Ximenes A., Angius A., Melis M.A., Serra P., Cao A. Interaction of alpha and beta thalassemia genes in two Sardinian families. Br. J. Haematol. 41:1979;203-210.
12. Weatherall D.J., Clegg J.B. The Thalassemia Syndromes. 1981;562-565 Blackwell, Oxford.
13. Papassotiriou I., Traeger-Synodinos J., Prome D., Kister J., Stamou E., Liakopoulou T., Stamoulakatou A., Kanavakis E., Wajcman H. Association of unstable hemoglobin variants and heterozygous beta-thalassemia: example of a new variant Hb Acharnes or [beta53(D4) Ala → Thr]. Am. J. Hematol. 62:1999;186-192.
14. Jakeman A., Thompson T., McHattie J., Lehotay D.C. Sensitive method for nontransferrin-bound iron quantification by graphite furnace atomic absorption spectrometry. Clin. Biochem. 34:2001;43-47.
15. Clegg J.B. Hemoglobin synthesis. Weatherall D.J. Methods in Hematology: The Thalassemias. 1983;54-73 Churchill Livingstone, London.
16. Kanavakis E., Traeger-Synodinos J., Vrettou C., Maragoudaki E., Tzetis M., Kattamis C. Prenatal diagnosis of the thalassemia syndromes by rapid DNA analytical methods. Mol. Hum. Reprod. 3:1997;523-528.
17. Kihm A.J., Kong Y., Hong W., Russell J.E., Rouda S., Adachi K., Simon M.C., Blobel G.A., Weiss M.J. An abundant erythroid protein that stabilizes free alpha-hemoglobin. Nature. 417:2002;758-763.
18. Gell D., Kong Y., Eaton S.A., Weiss M.J., Mackay J.P. Biophysical characterization of the alpha-globin binding protein alpha-hemoglobin stabilizing protein. J. Biol. Chem. 277:2002;40602-40609.
19. Cighetti G., Duca L., Bortone L., Sala S., Nava I., Fiorelli G., Cappellini M.D. Oxidative status and malondialdehyde in beta-thalassemia patients. Eur. J. Clin. Invest. 32(Suppl. 1):2002;55-60.
20. Papassotiriou I., Kister J., Griffon N., Stamoulakatou A., Abraham D.J., Marden M.C., Loukopoulos D., Poyart C. Modulating the oxygen affinity of human fetal hemoglobin with synthetic allosteric modulators. Br. J. Haematol. 102:1998;1165-1171.
21. Papassotiriou I., Kister J., Griffon N., Abraham D.J., Kanavakis E., Traeger-Synodinos J., Stamoulakatou A., Marden M.C., Poyart C. Synthesized allosteric effectors of the hemoglobin molecule: a possible mechanism for improved erythrocyte oxygen release capability in hemoglobinopathy H disease. Exp. Hematol. 26:1998;922-926.
22. Tassiopoulos T., Konstantopoulos K., Tassiopoulos S., Rombos Y., Aleviziou-Terzaki V., Kyriaki P., Loukopoulos D. Erythropoietin levels and microcytosis in heterozygous beta-thalassemia. Acta Haematol. 8:1997;147-149.
23. Marwah S.S., Wheelwright D., Blann A.D., Rea C., Beresford R., Phillips J.D., Wright J., Bareford D. Vitamin E correlates inversely with non-transferrin-bound iron in sickle cell disease. Br. J. Haematol. 14:2001;917-919.
24. Hartman C., Tamary H., Tamir A., Shabad E., Levine C., Koren A., Shamir R. Hypocholesterolemia in children and adolescents with beta-thalassemia intermedia. Pediatrics. 141:2002;543-547.
25. Nguyen T.T., Kruckeberg K.E., O'Brien J.F., Ji Z.S., Karnes P.S., Crotty T.B., Hay I.D., Mahley R.W., O'Brien T.J. Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. Clin. Endocrinol. Metab. 85:2000;4354-4358.