Role of L-Carnitine in Treatment of β-Thalassemia Major Disease

Abstract

β-thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of β-globin chains. L-Carnitine is often sold as a nutritional supplement. L-Carnitine has been proposed as a treatment for many conditions because it helps reducing oxidative stress. This study was carried out on 30 β-thalassemia major patients (15 females), aged from 1.3 to 14 years old and their weights ranged from 7 kg to 32 kg; collected from hematology clinic at Beni Suef University Hospital. Group A received dose 100mg\kg\day, group B received dose 50mg\kg\day, control group received L-Carnitine but with an inadequate dose or in irregular manner. Patients were represented to full history taking, clinical examination, laboratory investigations and determination of blood transfusion frequency on admission and every month for six months. There was an improvement in general health of children after therapy, an improvement in pallor, decreasing in elevation of serum ferritin level, decreasing in blood transfusion times, increasing in blood transfusion intervals and increasing in hemoglobin level. The increase in Reticulocyte count% (retics count %) was in all groups, more in control group, but still with no significant difference between the three groups. Using of dose 100mg\kg\day of L-Carnitine showed more improvement than dose 50mg\kg\day in pallor and laboratory findings except retics count % and more effective in reduction of times of blood transfusion.

Keywords

• L-carnitine, β-thalassemia, Human erythrocytes, hemoglobin level, serum ferritin

References

1. 1. Thein SL. Pathophysiology of {beta} Thalassemia--A Guide to Molecular Therapies. Hematol. 2005(1):31.
2. 2. Scott M, Van den Berg J, Repka T, RouyerFessard P, Hebbel R, Beuzard Y, et al. Effect of excess alpha-hemoglobin chains on cellular and membrane oxidation in model beta-thalassemic erythrocytes. J Clin Invest. 1993;91(4):1706.
3. 3. Dondorp A, Chotivanich K, Fucharoen S, Silamut K, Vreeken J, Kager P, et al. Red cell deformability, splenic function and anaemia in thalassaemia. Br J Haematol. 1999;105(2):505-8.
4. 4. Vayá A, Iborra J, Falcó C, Morenob I, Bolufer P, Ferrando F, et al. Rheological behaviour of red blood cells in ß and dß thalassemia trait. Clin Hemorheol Microcirc. 2003;28(2):71-8.
5. 5. Kuypers FA, Schott MA, Scott MD. Phospholipid composition and organization in model &bgr;- thalassemic erythrocytes. Am J Hematol. 1996;51(1):45-54.
6. 6. Shalev O, Mogilner S, Shinar E, Rachmilewitz E, Schrier S. Impaired erythrocyte calcium homeostasis in beta-thalassemia. Blood. 1984;64(2):564.
7. 7. Clark M. Senescence of red blood cells: progress and problems. Physiol Rev Suppl. 1988;68(2):503.
8. 8. Yesilipek M, Hazar V. Peripheral blood stem cell transplantation in children with beta-thalassemia. Bone marrow Transplant. 2001;28(11):1037.

9. 9. Nienhius AW, Ley TJ, Humphries RK, Young NS, Dover G. Pharmacological manipulation of fetal hemoglobin synthesis in patients with severe beta thalassemia. Ann NY Acad Sci. 1985;445:198-211.
10. 10. Yesilipek M, Hazar V, Yegin O. Carnitine Treatment in Beta Thalassemia Major. Acta Haematol. 2000;100(3):162-3.
11. 11. Evangeliou A, Vlassopoulos D. Carnitine metabolism and deficit-when supplementation is necessary? Curr Pharm Biotechnol. 2003;4(3):211-9.
12. 12. Kitamura Y, Satoh K, Satoh T, Takita M, Matsuura A. Effect of L-carnitine on erythroid colony formation in mouse bone marrow cells. Nephrol Dial Transplant. 2005;20(5):981.
13. 13. de los Reyes B, Navarro JA, Perez-Garcia R, Liras A, Campos Y, Bornstein B, et al. Effects of L-carnitine on erythrocyte acyl-CoA, free CoA, and glycerophospholipid acyltransferase in uremia. Am J Clin Nutr. 1998;67(3):386.
14. 14. Labonia WD, Morelli Jr OH, Gimenez MI, Freuler PV, Morelli OH. Effects of L-carnitine on sodium transport in erythrocytes from dialyzed uremic patients. Kidney Int. 1987;32(5):754-9.
15. 15. Kobayashi A, Watanabe H, Fujisawa S, Yamamoto T, Yamazaki N. Effects of-carnitine and palmitoylcarnitine on membrane fluidity of human erythrocytes. Biochim Biophys ActaBiomembranes. 1989;986(1):83-8.
16. 16. Chien S. Red cell deformability and its relevance to blood flow. Annu Rev Physiol. 1987;49(1):177-92.
17. 17. Mohandas N, Chasis J. Red blood cell deformability, membrane material properties and shape: regulation by transmembrane, skeletal and cytosolic proteins and lipids. 1993. p. 171.
18. 18. Mohandas N, Shohet S. The role of membraneassociated enzymes in regulation of erythrocyte shape and deformability. Clin Haematol. 1981;10(1):223.
19. 19. Ragab SM, Mahfouz RG. "L-Carnitine ameliorates the iron mediated DNA degradation in peripheral leukocytes of [Beta]- thalassemic children. . The Egyptian J of Med Hum Genet. 2010;11(1):17-22.
20. 20. El-Beshlawy A, Seoud H, Ibrahim A, Youssry I, Gabre H, Isma'eel H, et al. Apoptosis in thalassemia major reduced by a butyrate derivative. Acta Haematol. 2006;114(3):155-9.
21. 21. Bommer J. Saving erythropoietin by administering L-carnitine? Nephrol Dial Transplant. 1999;14(12):2819.
22. 22. Kletzmayr J, Mayer G, Legenstein E, Heinz-Peer G, Leitha T, HOeRL WH, et al. Anemia and carnitine supplementation in hemodialyzed patients. Kidney Int. 1999;55:S93-S106.
23. 23. Nand N, Yadav R, Aggarwal H, Yadav A, Sharma M. To Study the Effects of L-carnitine Administration on Anaemia and Oxidative Stress in Haemodialysed Patients. J Indian Acad of Clin Med. 2008;9(4):269.