نتایج جستجو برای: hb eβ0 thalassemia
تعداد نتایج: 34487 فیلتر نتایج به سال:
A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential cis-variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing ...
Human hemoglobin genes are located in α and β globin gene clusters in chromosomes 16 and 11, respectively. Different types of hemoglobin are synthesized according to the stage of development with fetal hemoglobin (α(2)γ(2)) (Hb F) being the main hemoglobin in the fetal period. After birth, there is a reduction (to about 1%) in Hb F levels and adult hemoglobin, Hb A (2α(2)β(2)), increases to mor...
110 (G A), confirming the thalassemic syndrome (4 ). In the future, the availability of isotope-labeled synthetic peptides at an affordable cost will aid in developing quantitative approaches, and we recommend that the contribution of quantitative MS/MS results for Hb variants be evaluated for the discrimination of ambiguous disorders (i.e., Hb S/S and Hb S/ -thalassemia). Our report and the se...
Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one individuals had microcytic anemia (MCV < 80 fL) and a normal hemoglobin pattern (Hb A (2) < 3.5% and Hb F < 1%). The subjects were screened for - α(3.7) ,...
BACKGROUND A beta-hemoglobin variant (beta 126 (H4) Val-->Gly) was reported from Thailand and Naples (Southern Italy) as Hb Dhonburi (1) and Hb Neapolis (2), respectively. This abnormal hemoglobin, resulting from a valine to glycine substitution in the contact region between alpha and beta subunits, gives rise to instability at non-physiological conditions. However, it was difficult to distingu...
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...
BACKGROUND The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis. CASE PRESENTATION A retinopathy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait associated to heterozygo...
Some hematological diseases can benefit from splenectomy for either diagnosis or treatment. When dealing with patients with thalassemia, splenectomy is a common therapeutic option, particularly indicated when the patient has increased transfusion demand, symptomatic splenomegaly or any signs of poor health, leucopenia, and thrombocytopenia.1 However, splenectomy can lead to thromboembolic event...
Hemoglobin Crete, 1 29 (H7) ala -k pro, is #{149} new mutant hemoglobin (Hb) with high oxygen affinity that was discovered in a Greek family in various combinations with #{176}and #{244} ’-thaIassemia. The propositus. who presented an unusual clinical picture of an “overcompenseted” hemolytic state. with erythrocytosis. splenomegaly. abnormal red cell morphology, and marked erythroid hyperplasi...
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