A Unique Thalassaemic Syndrome: Homozygous α-Thalassaemia + Homozygous β-Thalassaemia

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Abstract
The disturbed balance of globin chain synthesis is a major factor in the pathophysiology of the thalassemic disorders; this concept is strongly supported by the study of a patient displaying an extreme but symmetrical deficit of both major types of chains .alpha. and .beta.. The patient had a mild clinical picture but presented a striking hypochromia (MCH [mean corpuscular hemoglobin] 10 pg) with compensatory erythrocytosis (RBC [red blood cell] 1012/l.). Study of the propositus and his family by hematological, biochemical and biosynthetic techniques indicates that the patient carries 2 .alpha.- and 2 .beta.-thalassemia genes resulting in balanced globin chain synthesis; several members of the family carry 2 or 3 abnormal genes. During observation a change in the hematological pattern occurred with a shift towards more intensive .beta.-chain and away from .gamma.-chain synthesis; this appeared to be associated with improvement of his anemia through more effective erythropoiesis.