The hemoglobin disorders are the most common clinically serious single gene disorders in the world. In Egypt, β-thalassemia is the most common type with a carrier rate varying from 5.3 to ≥9% and a gene frequency of 0.03. So, it was estimated that 1,000/1.5 million per year live births will suffer from thalassemia disease in Egypt (total live births 1,936,205 in 2006). β-Thalassemia creates a social and financial burden for the patients' family and the Egyptian government. The high frequency of β-thalassemia carriers with increasing rate of newly born cases is a pressing reason for the importance to develop prevention program for β-thalassemia in Egypt. Sickle-cell disease (SCD) is not frequent in Egypt except in the Oases where the carrier rate varies from 9 to 22%. Our objectives were to provide an in-depth analysis of the current status of hemoglobinopathies in Egypt and what we need for prevention of these diseases.

Cardiac complications, such as pulmonary hypertension (PHT), are the leading cause of death in beta-thalassemia patients. L-Carnitine, due to its role in fatty acid oxidation, might help control the elevation in pulmonary artery systolic pressure (PASP). The objectives of this study were to assess the prevalence of PHT in beta-thalassemia major patients, identify clinical predictors for its development, and determine the potential effects of L-carnitine. In total, 32 patients with beta-thalassemia major were recruited; 16 age- and sex-matched children constituted the control group. Cardiac evaluation was performed by using echocardiography. The patients with PHT received 50 mg/kg/day L-carnitine orally for 3 months and were then reevaluated. Based on PASP, the patients were divided into group A without PHT and group B with PHT. The prevalence of PHT was 37.5%. The other echocardiographic measurements were not significantly different between groups A and B. PASP did not have any significant correlation with the following variables: age, total number of blood units received, splenic status, serum ferritin level, and ejection fraction. Following the administration of L-carnitine, there was a significant decrease in the mean PASP from 33.96 +/- 7.85 to 24.11 +/- 7.61. All cardiac dimensions decreased following L-carnitine, but the changes were not statistically significant. Even though beta-thalassemia major resulted in an elevation in the PASP in only a fraction of the patients, it seems to have an impact on the heart dimensions and function of all patients. No clinical predictors were identified. Oral administration of L-carnitine appears to significantly improve PASP.

Introduction: Heart disease secondary to chronic anemia and hemosiderosis remains the major cause of morbidity and mortality in thalassemic patients. Chronic anemia and the tissue hypoxia it induces impair free fatty acid oxidation and ATP production in myocardial cells. The use of L-carnitine, a butyric acid derivative, may help overcome some of these defects. Objective: To investigate the effect of L-carnitine therapy on cardiac function in thalassemia major patients. Materials and Methods: Cardiac function was evaluated in 30 patients attending our clinic. The mean (±SD) age was 15.87 ± 3.19 years. The studies we performed included echocardiography, Doppler and multigated equilibrium radionuclide angiography (MUGA). Systolic and diastolic function was evaluated before starting L-carnitine treatment and after 6 months of oral L-carnitine (50 mg/kg/day). Results: Echocardiography studies revealed no significant changes in systolic and diastolic function after L-carnitine therapy (p > 0.05). Analysis of the data taken by MUGA performed in 20 of the patients, however, showed a significant improvement of diastolic function after 6 months of L-carnitine therapy. The mean peak filling rate (end-diastolic volume/s) increased from 3.15 ± 1.06 to 3.61 ± 1.68 (p < 0.03). The time to peak (during filling) decreased significantly from 143.45 ± 42.04 to 117.70 ± 24.40 s (p < 0.02). Systolic function showed a significant increase in the left ventricular ejection fraction from 58.25 ± 9.92 to 63.95 ± 10.11% (p = 0.0001). Conclusion:L-Carnitine may be an effective drug for improving the cardiac status of thalassemic patients. MUGA is the most accurate technique of those used here for assessing left ventricular function in these patients.