Clinical presentation of thalassemia major due to homozygous beta (0)-thalassemia.

This study concerns the clinical presentation of all thalassemia major or intermedia in children admitted to out genetics department from January 1978 to December 1979. At electrophoresis and/or globin chain synthesis analysis on column chromatography. All these patients were shown to have homozygous beta(0)-thalassemia. The clinical severity was highly variable, dependent on age at presentation and when the patient first became dependent on transfusions. On the main reasons for this variability may be associated with thalassemia 1 or alpha-thalassemia 2 which have an incidence figure of 13 % in our population and hence also in these patients. Remarkable findings of the clinical and hematological picture were: (a) early spleen enlargement and growth deficiency; (b) MCV and MCH values intermediate between normals and beta-thalassemia heterozygotes; (c) normal mean hemoglobin A2 percentage and corpuscular concentration; (d) frequently increased transferrin saturation and ferritin levels; (e) presentation at age greater than 2 with hemoglobin levels about 9 g/dl usually associated with a milder course.