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Thalassaemia major

Thalassaemia is an inherited disease of the red blood cells and it is medically classified as hemoglobinopathy. Beta thalassemia genes are reported throughout the world, although more frequently in Mediterranean, African, and Southeast Asian populations. Patients of Mediterranean extraction are more likely to be anemic with thalassemia trait than Africans because they have beta-zero thalassemia rather than beta-plus thalassemia.

Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell anemia is a qualitative problem of synthesis of an incorrectly functioning globin.

Risk of elevated Liver Iron Concentration (LIC) for Thalassaemia major Patients

The risk of heart iron loading in thalassaemia patients appears to be very high compared to sickle cell patients. Therefore in thalassaemia patients patients, the risk of liver damage as well as the risk of heart damage due to iron overload has to be observed.

Mortality and Morbidity in Thalassaemia

The major causes of morbidity and mortality in patients with thalassaemia are anemia and iron overload.Iron overload is resulting from multiple life-long transfusions and enhanced iron absorption. This iron overload causes clinical problems similar to those observed with primary hemochromatosis and can lead to liver dysfunction.The severe anemia resulting from thalassaemia, if untreated, can result in high-output cardiac failure.

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Studies and publications on Thalassaemia

  • Roland Fischer Haematologica. 2009 February; 94(2): 294-295.Italian Society of Hematology guidelines for thalassemia and non-invasive iron measurements
  • Papakonstantinou, O., Maris, T. G., Kostaridou, S., Ladis, V., Vasiliadou, A., Gourtsoyiannis, N. C. (2005). Abdominal Lymphadenopathy in {beta}-Thalassemia: MRI Features and Correlation with Liver Iron Overload and Posttransfusion Chronic Hepatitis C. Am. J. Roentgenol. 185: 219-224
  • Angelucci E, Brittenham GM, McLaren CE, et al. Hepatic iron concentration and total body iron stores in thalassemia major. N Engl J Med 2000;343:32-331
  • Ali T. Taher, Khaled M. Musallam, Mohamad Khalife and Kassem Barada Hepatitis C antiviral response in thalassemia: what is the role of liver iron concentration?
  • Springer; Volume 88, Number 10 / Oktober 2009
Thalassaemia