Autosomal recessive inheritance
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Thalassemia

Thalassemia (American English) (or Thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy. The genetic defect results in synthesis of an abnormal hemoglobin molecule. The blood cells are vulnerable to mechanical injury and die easily. To survive, many people with thalassaemia need blood transfusions at regular intervals. more...

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The disease's geographical association with the Mediterranean sea was responsible for its naming: Thalassa is Greek for the sea. Thalassemia occurs in all populations and ethnic groups, however the prevalence differs among different populations.

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Improvement of cardiac function in thalassemia major treated with L-carnitine
From Alternative Medicine Review, 6/1/04

El-Beshlawy A, Ragab L, Fattah AA, et al. Acta Haematol 2004;111:143-148.

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.

COPYRIGHT 2004 Thorne Research Inc.
COPYRIGHT 2004 Gale Group

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