β°/β° thalassemia with a mild phenotype;Thalassémie β°/β° avec phénotype «intermédiaire»: Un diagnostic rare... auquel il faut penser

Annales de Biologie Clinique

Volumn 64, Issue 4, 2006, Pages 341-345

  Hemar C ^a   Nibourel, O ^a   Maboudou, P ^a   Mereau Richard C ^a   Badens, C ^b   Rousseaux, J ^a   Rose, C ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b TIMONE HOSPITAL   (France)

Author keywords

Fetal hemoglobin; Thalassemia intermedia; globin gene cluster polymorphisms; thalassemia mutation

Indexed keywords

GLOBIN; HEMOGLOBIN F;

ADULT; ARTICLE; BETA THALASSEMIA; BLOOD CELL COUNT; BLOOD TRANSFUSION; CASE REPORT; GENETIC POLYMORPHISM; GENETICS; HUMAN; MALE; PHENOTYPE;

ADULT; BETA-THALASSEMIA; BLOOD CELL COUNT; BLOOD TRANSFUSION; FETAL HEMOGLOBIN; GLOBINS; HUMANS; MALE; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 33747054466     PISSN: 00033898     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Winichagoon P, Fucharoen S, Chen P, Wasi P. Genetic factors affecting clinical severity in beta-thalassemia syndromes. J Ped Hematol Oncol 2000 ; 22 : 573-80.
2. Orkin SH, Goff SC. Nonsense and frameshift mutations in β°-thalassemia detected in cloned β globin genes. J Biol Chem 1981 ; 256 : 9782-4.
3. Labie D, Elion J. Modulation polygénique des maladies monogéniques : l'exemple de la drépanocytose. Med Sci (Paris) 1995 ; 12 : 341-9.
4. Ragusa A, Amata S, Lombardo T, et al. Asymptomatic and mild β-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G>A mutation : role of the β-globin gene haplotype. Haematologica 2003 ; 88 : 1099-105.
5. Qatanani M, Taher A, Koussa S, et al. Beta-thalassemia intermedia in Lebanon. Eur J Haematol 2000 ; 64 : 237-44.
6. Nadkarni A, Goraksharkar AC, Lu CY, et al. Molecular pathogenesis and clinical variability of beta-thalassemia syndromes among Indians. Am J Hematol 2001 ; 68 : 75-80.
7. Galanello R, Barella S, Satta S, Maccioni L, Pintor C, Cao A. Homozygosity for nondeletion delta-beta (0) thalassemia resulting in a silent clinical phenotype. Blood 2002 ; 100 : 1913-4.
8. Ragusa A, Lombardo M, Beljord C, et al. Genetic epidemiology of beta-thalasssemaia in Silicy : do sequences 5′ to the G gamma gene and 5′ to the beta gene interact to enhance HbF expression in beta-thalassemia. Am J Hematol 1992 ; 40 : 199-206.
9. Ferrara M, Matarese SM, Francese M, et al. Role of polymorphic sequences 5′ to the G(gamma) gene and 5′ to the beta gene on the homozygous beta thalassemic phenotype. Hemoglobin 2003 ; 27 : 167-75.
10. Beris P, Kitundu MN, Baysal E, et al. Black beta-thalassemia homozygotes with specific sequence variations in the 5′ hypersensitive site-2 of the locus control region have high levels of fetal hemoglobin. Am J Hematol 1992 ; 41 : 97-101.
11. Camaschella Mazza U, Roetto A, Gottardi E, et al. Genetic interactions in thalassemia intermedia : analysis of beta-mutations, alpha genotype, gamma-promoters, and beta-LCR hypersensitive sites 2 and 4 in Italian patients. Am J Hematol 1995 ; 48 : 82-7.
12. Badens C, Mattei MG, Imbert AM, et al. A novel mechanism for thalassemia intermedia. Lancet 2002 ; 359 : 132-3.