Beta-thalassemia Intermedia From Two Japanese Families

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Two cases of heterozygous β-thalassemia with unusually severe anemia and hepatosplenomegaly are described. Their Hb A2 and Hb F levels were shown to be in the range of the typical β-thalassemia trait. Bone marrow examinations showed marked erythroid hyperplasia and increased iron stores. Relative rates of β- and α-globin chain synthesis in the peripheral reticulocytes and bone marrow cells were within the range of the usual β-thalassemia trait. Of the total of 6 carriers in the first case, three members including the propositus exhibited more severe clinical and hematological abnormalities than three others who showed only mild anemia and red cell morphological changes seen in the usual β-thalassemia trait. In the second case, the proposita had a moderately severe anemia, while three other members of the family showed only mild hypochromic anemia, their biochemical features being those of the usual β-thalassemia trait. The findings presented here indicate that the phenotypical expression of thalassemia genes might be modified by some environmental factors and by interactions with other genetic constitutions, although these conditions are yet poorly understood.
社団法人　日本内科学会の論文