نتایج جستجو برای: hb e mutation
تعداد نتایج: 1303862 فیلتر نتایج به سال:
H EMOGLOBIN (Hb) K#{246}ln disease belongs to the group of nonspherocytic hemolytic anemias with a dominant inheritance pattern in which anemia is attributable to instability of the Hb molecule. The molecular pathology of this most common of the unstable Hbs was found to be the result of replacement of valine with methionine at f. 98 (FG 5), causing increased oxygen affinity and instability, po...
Background: Hemoglobin D Iran is frequently misdiagnosed as Hb E or Punjab if only one method of screening used. The objective our study was to highlight the importance using two different techniques in diagnosis a hemoglobin variant, case. Hematological parameters heterozygous and compound β/Hb were also compared. Methods: A descriptive carried out on results 52,379 subjects which part thalass...
Background and Objectives. To explore the role of cis-regulatory sequences within the β globin gene cluster at chromosome 11 on human γ globin gene expression related to Hb E allele, we analyze baseline hematological data and Hb F values together with β globin haplotypes in homozygous Hb E. Patients and Methods. 80 individuals with molecularly confirmed homozygous Hb E were analyzed for the β g...
Dear Editor, A 33-yr-old Thai woman visited Wonkwang University Sanbon Hospital, Korea, with chief complaints of fatigue and dizziness. Peripheral blood smear examination revealed microcytic hypochromic anemia with target cells (Fig. 1). Routine laboratory analysis results were within normal limits (bilirubin, haptoglobin, reticulocyte, lactate dehydrogenase, iron, total iron binding capacity, ...
Background and purpose: Increasing resistance to Quinolones in Escherichia coli and Klebsiella pneumonia in Sari, has caused many problems in treatment. Mutation in gyrA gene lead to changes in amino acids and resistance against Fluoroquinolones in E. coli and K. pneumonia. This study aimed at identifying remarkable mutations in E. coli and K. pneumonia isolates using PCR-SSCP analysis. Materi...
BACKGROUND Hemoglobin Constant Spring (Hb CS) is an abnormal Hb caused by a mutation at the termination codon of α2-globin gene found commonly among Southeast Asian and Chinese people. Association of Hb CS with α°-thalassemia leads to a thalassemia intermedia syndrome commonly encountered in the region. We report chromosome background and addressed genetic origins of Hb CS observed in a large c...
Since the observation of a “fast-moving” hemoglobin (Hb) in diabetic blood specimens by Rahbar in 1968 [1] and the subsequent structural identification of the glucose-“modified” Hb [2], the measurement of erythrocyte glycoHb (Hb A1c) has served as the monitor for long-term glucose control for patients with diabetes mellitus [3]. Column chromatography was one of the first methodologies used for ...
Haemoglobin (Hb)-M Hyde Park, also known as Hb-M Akita is a rare type of hereditary Hb M due to autosomal dominant mutation of CAC>TAC on codon 92 of β globin gene resulting in the replacement of histidine by tyrosine on β globin chain. This variant Hb has a tendency to form methaemoglobin (metHb). The iron ion in metHb is oxidized to ferric (Fe3+) which is unable to carry oxygen and the patien...
Thalassemia and hemoglobin E (Hb E) are common in Thailand. Individuals with thalassemia trait usually have a normal hemoglobin concentration or mild anemia. Therefore, thalassemic individuals who have minimum acceptable Hb level may be accepted as blood donors. This study was aimed at determining the frequency of α-thalassemia 1 trait, β-thalassemia trait, and Hb E-related syndromes in Souther...
Hemoglobin E-Saskatoon (b22-Glu->Lys) was first described by Vella et al. in a Canadian woman of mixed Scotish and Dutch origin and ever since the variant has been found in Greece, Scotland, Spain and Turkey. Hb E-Saskatoon seems to be an innocuous variant but there are not any available data concerning the association of haemoglobin E-Saskatoon with other haemoglobinopathies. Few published dat...
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