Genetic Patterns in Thalassemia Intermedia (Constitutional Microcytic Anemia)

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Abstract
Globin chain synthesis was studied in 17 patients with thalassemia intermedia, and their relatives, also investigated by routine hematologic and hemoglobinic tests. The mean .alpha./non .alpha. ratio was always around 2.20-2.30. In patients with severe thalassemia major, used as a control, the mean .alpha./non .alpha. ratio was significantly higher, that is 3.11-3.07. Therefore, the hypothesis that the cause of the lesser severity of the thalassemia intermedia is a lesser imbalance of globin chain synthesis, is suggested. One or both of the parents of patients with thalassemia intermedia have mild .beta.-thalassemia and normal .alpha./.beta. ratio, whereas the parents of patients with severe thalassemia major show a marked .beta.-thalassemia and a mean .alpha./.beta. ratio of 1.76. Genes for .beta.+-thalassemia may be responsible for thalassemia intermedia, and genes for .beta..degree.-thalassemia may be responsible for thalassemia major. In 2 patients with thalassemia intermedia, the association of an .alpha.-thalassemia gene with homozygous .beta.-thalassemia that is well known to reduce the globin chain imbalance typical of the .beta.-thalassemia, was also observed.

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