Interaction of an α+-thalassemia deletion with either a highly unstable α-globin variant (α2, codon 59, GGC→GAC) or a nondeletional α- thalassemia mutation (AATAAA→AATAAG): Comparison of phenotypes illustrating 'dominant' α-thalassemia

Hemoglobin

Volumn 23, Issue 4, 1999, Pages 325-337

  Traeger Synodinos, J ^a   Metaxotou Mavrommati, A ^a   Karagiorga, M ^b   Vrettou C ^a   Papassotiriou, I ^b   Stamoulakatou, A ^b   Kanavakis, Emmanuel ^a  

^a UNIVERSITY OF ATHENS   (Greece)

^b Haemophilia Haemostasis Unit   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; HEMOGLOBIN; HEMOGLOBIN A2; HEMOGLOBIN F; HEMOGLOBIN H;

ADOLESCENT; ADULT; ALPHA THALASSEMIA; ANEMIA; ARTICLE; CHILD; CLINICAL ARTICLE; ERYTHROPOIESIS; FEMALE; GENE DELETION; GENE MUTATION; HEMOGLOBIN ANALYSIS; HEMOGLOBIN SYNTHESIS; HEMOGLOBINOPATHY; HEMOLYSIS; HETEROZYGOTE; HUMAN; MALE;

EID: 0032707713     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630269909090748     Document Type: Article

References (30)

1. Poyart, C. and Wajcman, H.: Hemolytic anemias due to hemoglobinopathies. In: Erythrocyte Pathophysiology, edited by D. Bossi. Molec. Aspects Med., 17:129-142, 1996.
2. Adams, J.G. and Coleman, M.B.: Structural hemoglobin variants that produce the phenotype of thalassemia. Semin. Hematol., 27:229-238, 1990.
3. Thein, S.L.: Dominant β-thalassemia: molecular basis and pathophysiology. Br. J. Haematol., 80:273-277, 1992.
4. Thein, S.L., Hesketh, C., Taylor, P., Temperley, I.J., Hutchinson, R.M., Old, J.M., Wood, W.G., and Clegg, J.B.: Molecular basis for dominantly inherited inclusion body β-thalassemia. Proc. Natl. Acad. Sci. USA, 87:3924-3928, 1990.
5. Huisman, T.H.J. and Carver, M.F.H.: The Thalassemia Repository (Ninth Edition; Part II). Hemoglobin, 22:287-310, 1998.
6. Higgs, D.R.: α Thalassemia. In: The Haemoglobinopathies, edited by D.J. Weatherall and D.R. Higgs, Vol. 6, pages 117-150, Bailliere's Clinical Haematology, W.B. Saunders Company, London, England, 1993.
7. Wajcman, H., Vasseur, C., Blouquit, Y., Rosa, J., Labie, D., Najman, A., Reman, O., Leporrier, M., and Galacteros, F.: Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (α131[H14] Ser→Pro) and Hb Caen (α132[H15] Val→Gly). Am. J. Hematol., 42:367-374, 1993.
8. Higgs, D.R., Goodbourn, S.E.Y., Lamb, J., Clegg, J.B., Weatherall, D.J., and Proudfoot, N.J.: α-thalassemia caused by a polyadenylation signal mutation. Nature, 306: 398-400, 1983.
9. 2, a severely unstable α1-globin variant, observed in combination with the-(α)20.5 kb α-thal-1 deletion in two Turkish patients. Am. J. Hematol., 44:270-275, 1993.
10. Chan, V., Chan, W-Y., Tang, M., Lau, K., Todd, D., and Chan, T.K.: Molecular defects in Hb H hydrops fetalis. Br. J. Haematol., 96:224-228, 1997.
11. Kattamis, C., Tzotzos, S., Kanavakis, E., Synodinos, J., and Metaxotou-Mavromati, A.: Correlation of clinical phenotype to genotype in Hemoglobin H disease. The Lancet, i:442-444, 1988.
12. Huisman, T.H.J., editor: The Hemoglobinopathies, Methods in Hematology, Vol. 15, Churchill Livingstone, Edinburgh, Scotland, 1986.
13. Vassilopoulos, G., Papassotiriou, I., Voskaridou, E., Stamoulakatou, A., Premetis, E., Kister, J., Marden, M., Griffon, N., Poyart, C., Wajcman, H., Galactéros, F., and Loukopoulos, D.: Hb Arta [β45 (CD4) Phe→Cys]: a new unstable haemoglobin with reduced oxygen affinity in trans with β-thalassaemia. Br. J. Haematol., 91:595-601, 1995.
14. Papassotiriou, I., Traeger-Synodinos, J., Kanavakis, E., Karagiorga, M., Stamoulakatou, A., and Kattamis, C.: Erythroid marrow activity and Hemoglobin H levels in Hemoglobin H disease. J. Pediatr. Hematol./Oncol., 20:539-544, 1998.
15. Clegg, J.B.: Haemoglobin synthesis. In: The Thalassemias, edited by D.J. Weatherall, Methods in Hematology, Vol. 6, pages 54-73, Churchill Livingstone, London, England, 1983.
16. Miller, S.A., Dykes, D.D., and Polesky, H.F.: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16:1215, 1988.
17. Kanavakis, E., Tzotzos, S., Liapaki, A., Metaxotou-Mavromati, A., and Kattamis, C.: Frequency of α-thalassaemia in Greece. Am. J. Hematol., 22:225-232, 1986.
18. Traeger-Synodinos, J., Kanavakis, E., Tzetis, M., Kattamis, A., and Kattamis, C.: Characterization of nondeletion α-thalassemia mutations in the Greek population. Am. J. Hematol., 44:162-167, 1993.
19. Harteveld, K., Heister, A.J., Giordano, P.C., Losekoot, M., and Bernini, L.F.: Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA. Hum. Mutat., 7:114-122, 1996.
20. Kanavakis, E., Traeger-Synodinos, J., Vrettou, C., Maragoudaki, E., Tzetis, M., and Kattamis, C.: Prenatal diagnosis of the thalassemia syndromes by rapid DNA analytical methods. Molec. Hum. Repro., 3:523-528, 1997.
21. +-thalassaemias from early childhood to maturity. Br. J. Haematol., 95:266-272, 1996.
22. Rees, D.C., Williams, T.N., Maitland, K., Clegg, J.B., and Weatherall, D.J.: Alpha thalassaemia is associated with increased soluble transferrin receptor levels. Br. J. Haematol., 103:365-369, 1998.
23. 0 thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H. Br. J. Haematol., 92:332-335, 1996.
24. Cazzola, M. and Beguin, Y.: New tools for clinical evaluation of erythron function in man. Br. J. Haematol., 80:278-284, 1992.
25. Hall, G.W., Thein, S. L., Newland, A.C., Chisholm, M., Traeger-Synodinos, J., Kanavakis, E., Kattamis, C., and Higgs, D.R.: A base substitution (T→C) in codon 29 of the α2 globin gene causes a thalassaemia. Br. J. Haematol., 85:546-552, 1993.
26. Ho, P.J., Rochette, J., Rees, D.C., Fisher, C.A., Huehns, E.R., Will, A.M., and Thein, S.L.: Hb Sun Prairie: diagnostic pitfalls in thalassemic hemoglobinopathies. Hemoglobin, 20:103-112, 1996.
27. Rochette, J., Barnetson, R., Thein, S.L., Varet, B., and Valensi, F.: Hb Questembert is due to a base substitution (T→C) in codon 131 of the α2 globin gene and has an α-thalassemia biosynthetic ratio. Am. J. Hematol., 48:289-290, 1995.
28. Goossens, M., Lee, K.Y., Liebhaber, S.A., and Kan, Y.W.: Globin structural mutant α125 Leu→Pro is a novel cause of α-thalassaemia. Nature, 296:864-865, 1982.
29. Honig, G.R., Shamsuddin, M., Zaizov, R., Steinherz, M., Solar, I., and Kirschmann, C.: Hemoglobin Petah Tikva (α110 Ala→Asp): a new unstable variant with α-thalassemia-like expression. Blood, 57:705-711, 1981.
30. Cooper, D.N. and Youssoufian, H.: The CpG dinucleotide and human genetic disease. Hum. Genet., 78:151-155, 1988.