Elucidating the spectrum of alpha thalassemia mutations in iran
Two polymorphisms, coagulation factor XIII (FXIII) Val34Leu and plasminogen activator inhibitor 1 (PAI-1) 4G/5G, interfere with fibrin cross-linking and regulation of fibrinolysis and may therefore contribute to early pregnancy loss...
Maritha J Kotze Division of Human Genetics, Faculty of Heath Sciences, University of Stellenbosch, Tygerberg, and Genecare Molecular Genetics Pty Ltd, Christiaan Barnard Memorial Hospital, Cape Town, South Africa Mol Diagn 9-74. Our aim was to design a rapid diagnostic assay capable of simultaneously analyzing seven point mutations in the low-density lipoprotein receptor (LDLR) gene, which occur at high frequency in South African FH patients...
ABSTRACT Objective: To evaluate the frequency of -gene, -gene, and hemoglobin variant numbers in subjects with Microcytic hypochromic anemia.
Methodology: In total out of 850, 340 subjects with microcytic hypochromic anemia [MCV1. Sc Bioinformatics, Research Center of Thalassemia & Hemoglobinopathies, Physiology Research Center, Ahwaz Jondishapur University of Medical Sciences, Ahwaz Iran.
In general the anemia is both dyserythropoietic as well as hemolytic.
In some, like Hb S the cause is apparent as lowering of oxygen tension leads to a process known as sickling of the red cells making them more susceptible to destruction by the spleen.
Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.
In 8 (27.6%) cases, deletions were seen in all regions.Microcytic hypochromic anemia is a common hematological abnormality in clinical practice and usually is caused by iron deficiency and thalassemia trait.The degree of microcytosis and type of mutation in thalassemias had shown wide variation between ranges of MCV.Correspondence Fakher Rahim E-mail: [email protected]* Received for Publication: September 17, 2007 * Revision Accepted: November 3, 2007 Iranian population is a mixture of different ethnic groups, frequency and distribution of α-globin mutations in various regions of the country need to be clarified.In Iran, with a remarkable prevalence of α and β- globin mutation, the increased likelihood of co-inheritance of α- and β-thalassemia may result in a large variety of phenotypes. The gene frequency of β-thalassemia, however, is high and varies considerably from area to area, having its highest rate of more than 10% around the Caspian Sea and Persian Gulf.