Food Cobalamin Malabsorption Presenting with Microcytic Anemia : A Case Report
Keywords:
Food cobalamin malabsorption, Megaloblastic anemia, Microcytic anemia, CobalaminAbstract
Abstract : A 3-year-old boy presented with chronic microcytic anemia refractory to iron therapy and normal hemoglobin typing. Physical examination revealed markedly pale conjunctiva, glossitis, clubbingof fingers, skin hyperpigmentation, acanthosis nigricans and presence of neurological long tract signs The complete blood count showed worsening anemia and thrombocytopenia. A bone marrow aspirate showed a megaloblastic nomoblasts with giant metamvelocytes and bands consistent with megaboblastic anemia. Further invessigations showed increased plasma homoccysteine large amount of urine methylmalonic acid, low level of serum cobalamin (< 30 pg/mL) and normal level of serum folate. With a history of adequate food intake he underwent gastroscopy, radiological studies of gastrointestinal tract which showed nomal anatomy and normal gastric pH. A therapeutic tnal with oral cobalamin resulted in a prompt increase in serum cobalamin and hemoglobin level upto nornal ranges within 2 weeks and 1 month respectively but microcytosis persisted. A study for alpha thalassemia-1 using a muliplex PCR techhnique revealed heterozygous Southeast Asian type deletion. The diagnosis of food cobalamin malabsorption was made due to the good response to oral free form cobalamin therapy and the nonresponse to protein - bound cobalamin which is normally present in food. Because of high prevalence of thalassemia trait in Thai population, megaloblastic anemia should also be considered in the differential diagnosis of Thai patients with microcytic anemia who are refractory to iron therapy.
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