OBJECTIVE: To correlate different polymorphisms of the beta-globin cluster with fetal hemoglobin (HbF) level in beta-thalassemia and E-beta thalassemia patients. METHODS: Fifteen thalassemia patients, seven with high HbF and not requiring transfusion, eight with lower HbF and requiring transfusion were studied for beta-globin mutation, concurrent inheritance of alpha-thalassemia, RFLP haplotype, a C-->T polymorphism at -158 of Ggamma and configuration of an (AT)(x)T(y) motif at -540 of beta-globin gene. RESULTS: Senegal 5'beta-haplotype and the polymorphism at -158 of G(gamma) was (P = 0.063) was linked to the high-HbF phenotype but the (AT)(9)T(5) configuration of the (AT)(x)T(y) motif was not (P = 0.6). Study of 30 chromosomes revealed 7 different configurations of the (AT)(x)T(y) motif. Association of these motifs with specific beta-globin mutations of this region has also been determined. CONCLUSION: The senegal haplotype and the polymorphism at -158 of G(gamma) was linked to the high-HbF phenotype. (c) Blackwell Munksgaard 2005.
OBJECTIVE: To correlate different polymorphisms of the beta-globin cluster with fetal hemoglobin (HbF) level in beta-thalassemia and E-beta thalassemiapatients. METHODS: Fifteen thalassemiapatients, seven with high HbF and not requiring transfusion, eight with lower HbF and requiring transfusion were studied for beta-globin mutation, concurrent inheritance of alpha-thalassemia, RFLP haplotype, a C-->T polymorphism at -158 of Ggamma and configuration of an (AT)(x)T(y) motif at -540 of beta-globin gene. RESULTS: Senegal 5'beta-haplotype and the polymorphism at -158 of G(gamma) was (P = 0.063) was linked to the high-HbF phenotype but the (AT)(9)T(5) configuration of the (AT)(x)T(y) motif was not (P = 0.6). Study of 30 chromosomes revealed 7 different configurations of the (AT)(x)T(y) motif. Association of these motifs with specific beta-globin mutations of this region has also been determined. CONCLUSION: The senegal haplotype and the polymorphism at -158 of G(gamma) was linked to the high-HbF phenotype. (c) Blackwell Munksgaard 2005.
Authors: Nadia Solovieff; Jacqueline N Milton; Stephen W Hartley; Richard Sherva; Paola Sebastiani; Daniel A Dworkis; Elizabeth S Klings; Lindsay A Farrer; Melanie E Garrett; Allison Ashley-Koch; Marilyn J Telen; Supan Fucharoen; Shau Yin Ha; Chi-Kong Li; David H K Chui; Clinton T Baldwin; Martin H Steinberg Journal: Blood Date: 2009-12-16 Impact factor: 22.113
Authors: Rodney T Perry; Debra A Gearhart; Howard W Wiener; Lindy E Harrell; James C Barton; Abdullah Kutlar; Ferdane Kutlar; Ozan Ozcan; Rodney C P Go; William D Hill Journal: Neurobiol Aging Date: 2006-12-08 Impact factor: 4.673