The clinical picture of ALAS2 deficiency is that of a hypo-chromic microcytic anemia with bone marrow erythroid hyperplasia as a result of ineffective erythropoiesis. The characteristic ring sideroblasts are found mainly in the late erythroid precursors. There is considerable heterogeneity in the severity of the disease, not only between individuals bearing different ALAS2 mutations but also between related individuals with the same mutation. Patients at one extreme may present a few months after birth with severe anemia, severe microcytosis and no response to pyridoxine; at the other extreme they may present in the ninth decade of life with anemia fully responsive to pyridoxine.
Although the anemia of pyridoxine-responsive SA is treatable, the main complication of the disease is iron overload; if left untreated, it has the same deleterious results as hereditary hemochromatosis. Iron overload can be biochemically evident as early as in adolescence, does not correlate with the degree of anemia, and can affect mildly anemic females. The importance of effectively treating iron overload cannot be overemphasized for one further reason: excess iron interferes with the function of ALAS2 and patients previously unresponsive to pyridoxine, after effective iron chelation, occasionally become responsive.
The advances in the molecular aspects of X-linked SA make prenatal diagnosis and counseling feasible, especially for families with the severe, pyridoxine-resistant forms of the disease.
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