Delayed decline of γ-globin expression in infant age associated with the presence of Gγ-158 (C→T) polymorphism

International Journal of Laboratory Hematology

Volumn 30, Issue 3, 2008, Pages 191-195

  Grosso, M ^b   Amendolara, M ^c   Rescigno, G ^c   Danise, P ^c   Todisco, N ^c   Izzo, P ^b   Amendola, G ^a,c  

^a University of Naples 'Federico II' ^*  (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c Umberto 1 Hospital   (Italy)

Author keywords

+27 mutation; 158 G polymorphism; Fetal hemoglobin switching; Hemoglobinopathy; Thalassemia

Indexed keywords

CYSTEINE; GAMMA GLOBIN; HEMOGLOBIN F; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; BETA THALASSEMIA; CASE REPORT; CONTROLLED STUDY; DNA POLYMORPHISM; ERYTHROPOIESIS; FEMALE; GENE EXPRESSION; GENETIC ANALYSIS; HUMAN; INFANT; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION;

BETA-THALASSEMIA; CHILD, PRESCHOOL; FEMALE; FETAL HEMOGLOBIN; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC PREDISPOSITION TO DISEASE; GLOBINS; HAPLOTYPES; HEMOGLOBIN A; HETEROZYGOTE; HUMANS; INFANT; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 43549121722     PISSN: 17515521     EISSN: 1751553X     Source Type: Journal    
DOI: 10.1111/j.1751-553X.2007.00946.x     Document Type: Article

References (16)

1. Beris P.H., Solenthaler M., Deutsch S., Darbellay R., Tobler A., Bochaton-Pialat M.L. Gabbiani G. (1999) Severe inclusion body β-thalassemia with haemolysis in a patient double heterozygous for β°-thalassemia and quadruplicated α-globin gene arrangement of the anti-4.2 type. British Journal of Haematology 105, 1074 1080.
2. Cao A. Moi P. (2000) Genetic modifying factors in β-thalassemia. Clinical and Chemical Laboratory Medicine 38, 123 132.
3. tha1 chromosomes and its usefulness in prenatal diagnosis. British Journal of Haematology 67, 231 234.
4. Esposito G., Grosso M., Gottardi E., Izzo P., Camaschella C. Salvatore F. (1994) A unique origin for the Sicilian (δβ)°-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis. Human Genetics 93, 691 693.
5. +27 and Hb Neapolis (Dhonburi) associated to an atypical β-thalassemia phenotype. Haematologica 86, 985 986.
6. 2β-thalassemia. Blood 72, 530 533.
7. Nathan D.G., Orkin S.H., Ginsburg D. Look A.T., eds. (2003) Nathan and Oski's Hematology of Infancy and Childhood, 6th edn. W.B Saunders Company, Philadelphia, PA.
8. Orkin S.H., Kazazian H.H., Antonarakis S.E., Goff S.C., Boehm C.D., Sexton J.P., Waber P.G. Giardina P.J. (1982) Linkage of β-thalassemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 296, 627 631.
9. Redelsperger M.M., Noguchi C.T., de Montalembert M., Rodgers G.P., Schechter A.N., Gourbil A., Blanchard D., Jais J.P., Ducrocq R., Peltier J.Y., Cottat M.C., Lacaille F., Belloy M., Elion J., Labie D. Girot R. (1994) Variation in fetal hemoglobin parameters and predicted hemoglobin S polymerization in sickle cell children in the first two years of life: Parisian prospective study on sickle cell disease. Blood 84, 3182 3188.
10. Rosatelli M.C., Tuveri T., Scalas M.T., Leoni G.B., Sardu R., Faa V., Meloni A., Pischedda M.A., Demurtas M., Monni G. Cao A. (1992) Molecular screening and fetal diagnosis of β-thalassemia in the Italian population. Human Genetics 89, 585 589.
11. Shimizu K., Harano K., Miwa S., Amenomori Y., Ohba Y., Kutlar F. Huisman T.H.J. (1986) Abnormal arrangements in the α- and γ-globin gene cluster in a relatively large group of Japanese newborns. American Journal of Human Genetics 38, 45 58.
12. Stamatoyannopoulos G. Nienhuis A.W. (1994) Hemoglobin switching. In: The Molecular Basis of Blood Diseases (eds G. Stamatoyannopoulos, A.W. Nienhuis, P.W. Majerus H. Varmus 2nd edn. 107 155. W.B Saunders Company, Philadelphia, PA.
13. Sutton M., Bouhassira E.E. Nagel R.L. (1989) Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. American Journal of Hematology 32, 66 69.
14. Tan A.S.C., Quah T.C., Low P.S. Chong S.S. (2001) A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia. Blood 98, 250 251.
15. Thein S.L. (2004) Genetic insights into the clinical diversity of β-thalassemia. British Journal of Haematology 124, 264 274.
16. Wheatherall D.J. (2001) Phenotype-genotype relationships in monogenic disease: lessons from the thalassemias. Nature Reviews 2, 245 255.