827 CONGENITAL SIDEROBLASTIC ANEMIA (CSA): A MICRO-ENVIRONMENT DEFECT
نویسندگان
چکیده
منابع مشابه
Sideroblastic anemia.
When first defined 50 years ago, sideroblastic anemia (SA) was already recognized to occur in heterogeneous settings, including as familial or acquired disease. The spectrum of SA has since become considerably expanded with respect to distinct clinical phenotypes as well as discrete causes. The singular feature that typifies all forms of SA and is required for initial diagnosis is the presence ...
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Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence of iron deposits in the mitochondria of red blood cell precursors. A common subtype of congenital sideroblastic anemia is due to autosomal recessive mutations in the SLC25A38 gene. The current treatment for SLC25A38 congenital siderobl...
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The sideroblastic anemias comprise a heterogeneous group of acquired and congenital disorders which that have in common: (1) anemia; (2) the presence of ring sideroblasts in the bone marrow; and (3) impaired heme biosynthesis. Elevation in iron levels is secondary to a deficiency in mitochondrial physiology. Patients exhibit mild to moderate hemolysis due to peripheral red blood cell destructio...
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Isoniazid induced sideroblastic anemia is a rare event. We report case of a 45 year old Caucasian women with development of severe anaemia 4 month after introduction of Isoniazid as part of Tuberculosis treatment. While haemoglobin fell to 47 g/L and erythrocyte count to 1.5 G/L, reticulocytes were very low (reticulocyte production index of 0.48), but bone marrow aspirate showed an accelerated ...
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Diamond-Blackfan anemia (DBA) is a congenital pure red blood cell aplasia diagnosed in the first year of life. Familiarity is apparent in 10% of patients, with all other cases being sporadic. Physical abnormalities are present in at least one third of patients, pointing to a defect in early embryo development. The main clinical sign is profound isolated anemia, with normal numbers and functioni...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1981
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198104001-00852