نتایج جستجو برای: thalassemia trait
تعداد نتایج: 98638 فیلتر نتایج به سال:
Background and Objectives. β-Thalassemia and sickle cell disease are genetic disorders characterized by reduced and abnormal β-globin chain production, respectively. The elevation of fetal hemoglobin (HbF) can ameliorate the severity of these disorders. In sickle cell disease patients, the HbF level elevation is associated with three quantitative trait loci (QTLs), BCL11A, HBG2 promoter, and HB...
BACKGROUND beta-thalassemia is the most common inherited single gene disorder worldwide, and glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme deficiency. The goal of this study was to compare the frequency of beta-thalassemia trait and G6PD among the Moslem and Jewish populations in Shiraz, southern Iran. METHODS We examined 201 Moslems and 187 Jewish subjec...
INTRODUCTION The simultaneous presence of Takayasu's arteritis and beta thalassemia trait is a rare combination. To the best of our knowledge, this is the first case report on Takayasu's arteritis and beta thalassemia presenting together. CASE PRESENTATION This is a case report of a 23-year-old Asian woman of Pakistani descent who presented with a headache, blurred vision and dizziness. CON...
Hemoglobin (Hb) A2' is a hematologically silent variant of HbA2 that is detected easily by high-performance liquid chromatography (HPLC), where it elutes in the S window. Our purposes were to define diagnostic criteria for the HbA2' trait using the Variant II (Bio-Rad, Hercules, CA) and to determine the prevalence of HbA2' in a metropolitan patient population. All Hb screens (N = 5,862) perform...
3-Thalassemia is a major public health problem in Algeria. During a survey, a family including two cases of 30-thalassemia was studied. The family study indicated that two of the affected siblings had homozygous /3-thalassemia; there were also both normal and heterozygous siblings, and both parents had /3-thalassemia trait. In the two cases of /30-thalassemia there was no hemoglobin A in the pe...
beta-Thalassemia and sickle cell disease both display a great deal of phenotypic heterogeneity, despite being generally thought of as simple Mendelian diseases. The reasons for this are not well understood, although the level of fetal hemoglobin (HbF) is one well characterized ameliorating factor in both of these conditions. To better understand the genetic basis of this heterogeneity, we carri...
Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-(δβ)0-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature, and has been associated with symptomatol...
Abstract A group of inherited blood defects is known as Thalassemia among the world’s most prevalent hemoglobinopathies. Thalassemias are two types such Alpha and Beta Thalassemia. The cause these gene mutations leading to low levels and/or malfunctioning ? ? globin proteins, respectively. In some cases, one proteins may be completely absent. chains form a fold or pocket for heme (Fe++) attachm...
BACKGROUND More than 40 mathematical indices have been proposed in the hematological literature for discriminating between iron deficiency anemia and thalassemia trait in subjects with microcytic red blood cells (RBCs). None of these discriminant indices is 100% sensitive and specific and also the ranking of the discriminant indices is not consistent. Therefore, we decided to conduct the first ...
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