Hb Bart ’ s Level in Cord Blood and Deletions of a - Globin Genes
نویسندگان
چکیده
The white blood cell DNA of 36 cord blood samples with Hb Bart’s in the red blood cells was studied for a-globin gene deletions by hybridization of DNA fragments digested by the restriction endonucleases Eco RI, Hpa I. Bam HI, and Bgl II. All 16 DNA samples from cord blood with Hb Bart’s below 3% and no other abnormal hemoglobin had one a-globin gene deletion (athal2), except one which had two a-globin gene deletions (athal1). Most of the athal2 were of the rightward deletion athal2 genotype. Two new types of athal2 variation were found, probably due to a polymorphism somewhere in an area outside the a-globin gene. All
منابع مشابه
استفاده از مولتی پلکس PCR در شناسایی حذف های شایع ژن آلفاگلوبین در حاملین آلفا تالاسمی
Background and Aim:-thalassemia is the most common inherited disorder of hemoglobin (Hb) synthesis in the world. Alpha thalassemia most frequently results from the loss of one (- ) or both (- -) of the duplicated genes () on chromosome 16. Carriers of deletional forms of -thalassemia (-/- /-, or --/) are clinically normal but have a mild hypochromic, microcytic anemia. C...
متن کاملPrevalence of Hemoglobin Mutations and Hemoglobinopathies in Masjed Soleiman County, Southeastern Iran
ABSTRACT Background and Objectives: Hemoglobinopathies are characterized by defects in the synthesis of globin chains of hemoglobin (Hb). The purpose of the present study was to evaluate mutations associated with thalassemia and other hemoglobinopathies in Masjed Soleiman County, Iran. Methods: This descriptive study was carried out on 456 individuals suspected of ha...
متن کاملبررسی بیان ژن های موثر در سنتز گاما گلوبین قبل و بعد از تمایز سلول های بنیادی خونساز به رده سلول های اریتروئیدی
Background and aim: Induction of fetal hemoglobin (Hb-F) can improve the patients’ symptoms of haemoglobinopathies. Several factors can induce gamma globin gene expression and increased Hb-F levels in patients. In this study, the expression of genes is involved in regulation of gamma globin synthesis such as PIPKII-alpha BCL11a, and miR-30a during CD34+ hematopoietic stem cell differentiation i...
متن کاملUse of Capillary Electrophoresis for Detection of Hemoglobinopathies in Individuals Referred to Health Centers in Masjed-Soleiman
Background: Hemoglobinopathies are the commonest single gene disorder in human that affect hemoglobin production and function that occur when mutations alter the amino acid sequence of globin chains. The purpose of the present study was to evaluate the prevalence of hemoglobninopathies detected by capillary electrophoresis method in individuals referred to Masjed-Soleiman health centers by capi...
متن کاملHemoglobin Daneshgah-Tehran (HBA1:c.218A>G p.His72Arg): a Rare α1-Globin Variant from Iran
There are more than 400 different variations on α-globin protein, and most of them are not associated with noticeable clinical manifestation. Hemoglobin (Hb) is an oxygen-transporting protein and Hb Daneshgah- Tehran is an α-globin variant that for the first time was reported from Iran in a case with normal haematological indices. The capillary electrophoresis of an 8-year- old-girl with normal...
متن کامل