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The forms and severity of cardiac complications were investigated in patients with asymptomatic thalassemia intermedia and thalassemia major by M‐mode, bi‐dimensional echocardiography (ECHO) and echo‐Doppler. Twenty‐eight patients of both sexes with β‐thalassemia intermedia (β‐TI), mean age 23.2 ± 6.3 years, untransfused or minimally transfused, were compared to 42 age‐ and sex‐matched subjects with thalassemia major, who were regularly treated with hemotransfusive therapy [pre‐transfusion hemoglobin (Hb) values 9.5 ± 0.9 g/dL] and iron chelation. All patients were splenectomized. Age and sex matched healthy control subjects were randomly selected. β‐Thalassemia major (β‐TM) patients showed a marked reduction in contractile state and a milder left ventricular (LV) enlargement than β‐TI patients. Cardiac output (CO) and cardiac index (CI) were increased in both groups of patients but appeared significantly higher in β‐TI patients with consequent altered LV diastolic function indices. In addition, β‐TI pati...

Sixty‐seven homozygous male and female thalassemic patients with different phenotypes, aged between 8 and 33 years, were divided into three groups, according to the severity of their β‐thalassemia (thal) mutations. We investigated whether some co‐inherited genetic factors could influence the phenotype. Patients with milder β‐thal defects, homozygotes or compound heterozygotes for the IVS‐I‐6 (T→C) or −87 (C→G) mutations had a milder disease. In addition, determination of the co‐inheritance of the −158 (C→T) Gγ polymorphism and the (AT)9T5 repeat motif in the region −540 to −525, 5′ to the β‐globin gene, showed that in some patients with severe or mild/severe β‐thal mutations, linked to haplotype III, there was higher Hb F expression. We conclude that in homozygous β‐thal patients, the severity of the mutations is the most important factor influencing the phenotype, but some polymorphisms such as the −158 (C→T) Gγ and (AT)9T5 repeat motif, increasing the Hb F expression and ameliorate the clinical course o...