.BETA.0-Thalassemia Trait (IVS-I-1 G.RAR.T) in a Japanese Family.

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Three subjects in a family with microcytic and hypochromic anemia were studied; red blood cell morphology indicated aniso-poikilocytosis and hypochromasia. Target and tear-drop cells were also noted. In all three cases evaluated, there was an increase in HbA2 levels and a decline in the β/α synthesis ratio. Direct cloning and DNA sequencing identified a point mutation (G→T) at position 1 of intervening sequence I. The resulting reduction of β-globin chain synthesis is considered to give rise to β0-thalassemia phenotype. This point mutation is to our knowledge, the first case in Japan.(Internal Medicine 32: 865-868, 1993)