Transfusion dependent congenital sideroblastic anemia

A new type of transfusion-dependent congenital dyserythropoietic anemia.

Cases of congenital dyserythropoietic anemia (CDA) that do not conform to any of the three classical types often present diagnostic difficulties and are at risk of developing secondary hemochromatosis. Here, we report a case of a six year old boy with transfusion dependency and gross abnormalities of the erythroblasts.

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 ...

Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.

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...

Severe isoniazid related sideroblastic anemia

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 ...

Microcytic Anemias: Sideroblastic Anemia — Causes and Treatment