MedGen

Familial erythroleukemia is a leukemic or preleukemic state in which red cell proliferation is the predominant feature. Hematologic characteristics include particularly ineffective and hyperplastic erythropoiesis with megaloblastic components accompanied by myeloblastic proliferation of varying degree (Park et al., 2002). Park et al. (2002) discussed the evolution of the definition of 'erythroleukemia,' which is considered by most to be a subtype of acute myelogenous leukemia (AML; 601626). Controversy about the precise definition of erythroleukemia revolves around the number or percentage of erythroblasts and myeloblasts found in the bone marrow and peripheral circulation. In the French-American-British (FAB) classification system (Bennett et al., 1985), it is known as AML-M6, whereas in the revised World Health Organization (WHO) classification system (Harris et al., 1999), it is known as 'AML, not otherwise categorized' (Zini and D'Onofrio, 2004). [from OMIM]

Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if present, may be microcytic or macrocytic. Sometimes a dimorphic picture is observed in which 2 populations of erythrocytes can be detected in peripheral blood smears. The presence of ringed sideroblasts (erythroblasts containing pathologic mitochondrial iron deposits) in bone marrow is pathognomonic for sideroblastic anemia (van Waveren Hogervorst et al., 1987; Schmitz-Abe et al., 2015). For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751). [from OMIM]

Sideroblastic anemia-5 (SIDBA5) is an autosomal recessive hematologic disorder characterized by abnormal iron accumulation in the mitochondria or erythroid cells. The pathologic iron deposits appear to ring the nucleus, resulting in a 'ringed sideroblast' on pathologic examination. Affected individuals have congenital hypochromic microcytic anemia apparent in childhood; they may also develop thrombocytopenia or pancytopenia (summary by Crispin et al., 2020). For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751). [from OMIM]

A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts. [from HPO]