Macrocytic and/or megaloblastic anaemias of infants and children are more often due to a defective bone marrow production than to haemolysis. They are mostly related to folate and/or cobalamin deficiency or to a disturbance in the metabolism of one of these vitamins (enzyme deficiencies or defect of synthesis of their active forms). More rarely, these anaemias are associated with congenital deficiency of the enzymes involved in pyrimidine or purine biosynthesis. A few cases of thiamine-responsive megaloblastic anaemia have been reported. Some blood diseases may also associated with macrocytic anaemia. Finally, many drugs (antifolic agents, antipurine or antipyrimidine compounds) may induce macrocytic anaemia.
婴儿和儿童的大细胞性和/或巨幼细胞性贫血更多是由于骨髓生成缺陷而非溶血所致。它们大多与叶酸和/或钴胺素缺乏或这些维生素之一的代谢紊乱(酶缺乏或其活性形式合成缺陷)有关。更罕见的是,这些贫血与嘧啶或嘌呤生物合成中涉及的酶的先天性缺乏有关。已报道了一些硫胺素反应性巨幼细胞贫血病例。一些血液疾病也可能与大细胞性贫血有关。最后,许多药物(抗叶酸剂、抗嘌呤或抗嘧啶化合物)可能诱发大细胞性贫血。