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Asymptomatic Megaloblastic Erythropoiesis with Chromosomal Abnormalities.

Eugene P. Libre, M.D. (Associate); Jacqueline Whang, M.D.; and Andrew S. Tegeris, M.D.
Ann Intern Med. 1968;68(5):1170. doi:10.7326/0003-4819-68-5-1170_1
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A unique finding of abnormal megaloblastic erythropoiesis with marked macrocytosis (mean corpuscular volume = 127 cµ) without anemia in a healthy 50-year-old white man was documented for 16 years. During the 16-year period of observation, treatment with B12, folic acid, citrovorum factor, pyridoxine, and other hematinics did not produce any change in his marrow morphology. Serum iron, folate, B12 values, Schilling test, and excretion of orotic acid were normal. There was a history of consanguinity. Asymptomatic macrocytosis was present in a brother; however, both parents, who were first cousins, and other available family members did not have macrocytosis. The propositus


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