In a large Dutch family, van Waveren Hogervorst et al. (1987) observed mother and son with sideroblastic anemia diagnosed on the basis of the finding of ringed sideroblasts in bone marrow preparations. Both also had a bimodal erythrocyte ... In a large Dutch family, van Waveren Hogervorst et al. (1987) observed mother and son with sideroblastic anemia diagnosed on the basis of the finding of ringed sideroblasts in bone marrow preparations. Both also had a bimodal erythrocyte volume distribution curve and a dimorphic appearance of red cells on smear. The pattern of inheritance of the morphologic abnormality, which was found in 22 of 49 members of the family, was clearly autosomal dominant. Bimodality of red cell volume is usually taken as an indication of the heterozygous state of X-linked sideroblastic anemia (300751). The observations in this family indicate that this may not always be justified. Amos et al. (1988) reported a 25-year-old man with sideroblastic anemia and dimorphic peripheral blood films. A bone marrow biopsy showed that 95% of erythrocytes were ringed sideroblasts. The father had a less severe phenotype, with 6% ringed sideroblasts on bone marrow aspirate and a small population of hypochromic, microcytic red cells on peripheral smear. Anemia was not present in the father. The sideroblastic trait appeared to have an autosomal inheritance pattern.
Delhommeau et al. (2009) analyzed the TET2 gene (612839) in bone marrow cells from 320 patients with myeloid cancers and identified TET2 defects in 2 patients with refractory anemia with sideroblasts, 1 of whom also had thrombocytosis, and ... Delhommeau et al. (2009) analyzed the TET2 gene (612839) in bone marrow cells from 320 patients with myeloid cancers and identified TET2 defects in 2 patients with refractory anemia with sideroblasts, 1 of whom also had thrombocytosis, and in 2 patients with refractory cytopenia with multilineage dysplasia and ringed sideroblasts.