Megaloblastic anemia has multiple etiologies (Table 12.1). Indeed, it is the main hematological manifestation of, on the one hand, classic inherited disorders (e.g. Lesch-Nyhan syndrome, orotic aciduria, transcobalamin deficiency) and, on the other hand, classic acquired disorders such as pernicious anemia and nutritional deficiency of either vitamin B (= co-balamin, Cbl) or folate. In this respect, the acquired (and far more common) conditions can be regarded as phenocopies of the much more rare inherited conditions.

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