Department of Physics, University of Colorado, Boulder, CO 80309, USA, National Synchrotron Radiation Laboratory, University of Science and Technology of China, Hefei, Anhui 230029, P. R. China, Department of Physics, Northeastern University, Boston, MA 02115, USA, Advanced Light Source, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA, Materials Science Division, Argonne National...

The γ(G)-158 (C→T) polymorphism plays important function in the disease severity of sickle cell anemia. The XmnI restriction site at -158 position of the γ(G)-gene is associated with increased expression of the γ(G)-globin gene and higher production of HbF. This study aims to determine the frequency of the different genotypes of the γ(G) Xmn I polymorphism in sickle cell anemia and sickle cell ...

DOI: 10.5581/1516-8484.20110128 Thalassemias are common monogenic disorders caused by partial or complete reduction synthesis of one or more globin chains.(1) The normal concentrations of fetal hemoglobin (Hb F) in adults without Hb alterations range from 0% to 1%.(2) It is known that stimulation of Hb F production is beneficial to homozygous beta-thalassemia individuals(3) and that the XmnI po...

BACKGROUND Thalassemia is a heterogeneous disorder and several genetic factors influence the severity of thalassemia. An accurate and early diagnosis of a mild thalassemia genotype helps to avoid unnecessary transfusion and its complications. The aim of this study is to identify the association between XmnI polymorphism and disease severity in patients with beta-thalassemia from northern Pakist...

Apolipoproteins have an important role in lipid metabolism and transport. Polymorphisms in the APOA1/C3/A4/A5 gene cluster have been associated with lipid alterations and cardiovascular diseases. We investigated APOA1 XmnI, APOA5 S19W, and APOA5 -1131T>C polymorphisms in 377 individuals from a cohort of a longitudinal Brazilian elderly study. Allele frequencies, genotype distribution, and assoc...

Background: Molecular genetic factors regulating hemoglobin F (Hb F) expression are important modifiers of the severity of sickle cell anemia (SS). Methods: The prevalence of XmnI polymorphic site, the Gg:Ag ratio and the Hb F level were determined using PCR-RFLP procedure, HPLC and alkaline denaturation method, respectively, in various haplotypes of 52 patients with SS, 18 patients with sickle...

We report a 20-year-old female with sickle cell anaemia and with an HbF concentration of 15.8%. The patient was not using hydroxyurea and was not receiving regular blood transfusions. The patient never had chronic manifestations of sickle cell anaemia, only pain crises of a mild intensity. After laboratory tests, we found that she was homozygous for HbS with the Bantu/atypical haplotype, and wa...

introduction: beta thalassemia is the most common inherited bloody disorder, affecting synthesis of the beta globin chain of hemoglobin. the type of β-thalassemia mutation affects on the β-globin chain synthesis that appears as β ° ، β + and β ++ -thalassemia. the presence of xmni polymorphic site at the 5 َ region of the g γ-globin gene affects on the rate of g γ chain synthesis and in some con...

A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped for 5 genetic modifiers of severity: i) β-thalassemia mutations; (ii) the XmnI SNP; (iii) the -3.7 kb α-thal deletion; (iv) the tag-SNP rs 11886868 in BCL11A exon 2; and (v) the tag-SNP rs9399137 in the HBSB1L-cMYB inter-region. Multivariate analysis was performed to study the risk of thalassemia In...