β-Thalassemia minorの1家系

概要

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A 26 year-old man, a native of Tokyo, was diagnosed to have hypochromic microcytic anemia at the time medical examination. The erythrocyte count was 569× 104 per cmm, hemoglobin 12.3 g/dl, hematocritt 37.4% (MCV 65μ3, MCH 21.6 γγ) . The reticulocyte count was 16 %. Anisocytosis, poikilocytosis, and target cells were seen in peripheral blood. Serum iron was 129 μg/dl, total iron binding capacity 348μg/dl, ferritin 320 ng/ml. Hemoglobin F and A2 were significantly elevated. Red cell fragility with coil planet centrifuge was markedly decreased (HEP 48 mOsm, HSP 90 mOsm) . Bone marrow aspiration revealed erythroid hyperplasia. As a result of the examination of 12 of his family members, blood data of 5 persons including his mother, a native of Shizuoka, were similar to that of propositus. The diagnosis of β-halassemia minor, transmitted from the mother's side, was made. We had studied only 46 family trees in Japan before our report.
学校法人昭和大学・昭和医学会の論文