β0-Thalassemia Intermedia

Abstract

Three patients with a relatively mild form of β0-thalassemia who did not require regular blood transfusions are described. Globin synthesis was studied by gel filtration and urea-carboxymethylcellulose chromatography of stroma-free hemolysates prepared from peripheral blood and bone marrow cells labeled in vitro with 14C-leucine. γ/α Synthetic ratios in peripheral blood were in the same range as in patients with the severe clinical form of β0-thalassemia, while γ/α synthetic ratios in bone marrow cells were higher than in that group of patients. The size of the free α-chain pool measured in one case was smaller than in other patients with “classical” Cooley anemia. It is concluded that the severity of the clinical course in β0-thalassemia does not correlate with the imbalance in α versus γ chain synthesis in peripheral blood and is determined by the synthetic ratio in bone marrow cells, where the bulk of hemoglobin synthesis takes place.