نتایج جستجو برای: thalassemia intermedia
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BACKGROUND Thalassemia major is one of the most common genetic disorders in Pakistan and over five thousand new patients are added in the pool annually. This familial disease has both medical and social implications, and therefore there is a need to assess the magnitude of beta-Thalassemia trait amongst family members of Thalassemia major patients. METHODS This cross-sectional descriptive stu...
Hb D is a clinically silent condition, but co-inheritance of Hb D with sickle cell or thalassemia produces clinically significant conditions like sickle cell anemia or thalassemia intermedia and chronic hemolytic anemia of moderate severity. Here we present a case of homozygous Hb D with alpha 3.7kb deletion and phenotypic effect on patients. Diagnosis of Hb D patient was performed by high perf...
Beta-thalassemia intermedia (β-TI) is a genetic variant of beta-thalassemias with a clinical disorder whose severity falls between thalassemia minor and thalassemia major. Different genetic defects are involved in this disorder and, based on severity of disease, clinical complications like skeletal deformities and growth retardation, splenomegaly, extramedullary hematopoiesis, heart failure, an...
hybrid (myeloid-erythroid) blasts has been proposed to be a characteristic bone marrow feature in EL, but has not as yet been emphasized as a morphologic feature of the disease.4 Erythroblasts with peripheral chromatin condensation are sufficiently characteristic for a provisional diagnosis of B 19 infection to be made on the histology5 and rare erythroblasts with this morphologic feature could...
BACKGROUND The molecular defects resulting in a β-thalassemia phenotype, in the Egyptian population, show a clear heterogenic mutations pattern. PCR-based techniques, including direct DNA sequencing are effective on the molecular detection and characterization of these mutations. The molecular characterization of β-thalassemia is necessary for carrier screening, genetic counseling, and to offer...
Hemoglobin E heterozygotes (Hb AE) are asymptomatic and homozygotes (Hb EE) have a mild microcytic anemia . However, we had a 2 year old female child presenting with moderate pallor necessitating blood transfusions at 6 months to 1 year interval starting from eight months of age. Thorough clinical examination and investigative work-up revealed Hb E trait with Gaucher’s disease. To the best of o...
Thalassemia is a congenital hemolytic disorder caused by a partial or complete deficiency of alpha- or beta-globin chain synthesis. Homozygous carriers of beta-globin gene defects suffer from severe anemia and other serious complications from early childhood. The disease is treated by chronic blood transfusion. However, this can cause severe iron overload resulting in progressive organ failure....
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