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Long-term management of the thalassemic patient after hematopoietic cell transplantation

Emanuele Angelucci, MD
Section Editor
Robert S Negrin, MD
Deputy Editor
Jennifer S Tirnauer, MD


Patients with homozygous beta thalassemia require chronic blood transfusions to survive; however, ineffective erythropoiesis and transfusions cause iron overload that is ultimately fatal if not continuously treated [1]. The only available alternative therapy is hematopoietic cell transplantation (HCT), which can produce cure of the disease in many patients. (See "Efficacy of hematopoietic cell transplantation in beta thalassemia major".)

Although successful HCT provides a permanent cure for the thalassemic marrow defect, such patients are still homozygous for the mutant gene in every other cell in the body and are carriers for all the clinical complications acquired during prior years of transfusion and chelation therapy. Among the issues requiring long-term management in such patients are iron overload, chronic hepatitis and liver fibrosis, endocrine dysfunction, and transplant-related complications. These issues will be reviewed here.


Patients with homozygous beta thalassemia may receive as many as 100 units of red cells which contain up to 20 to 25 g of iron, similar to, or more than, the amount retained in many symptomatic patients with hereditary hemochromatosis. They eventually develop marked elevations in transferrin saturation and in the serum ferritin concentration, which may reach 2000 to 4000 mcg/L (normal: 40 to 200 mcg/L) and clinical signs of iron overload (eg, liver dysfunction, heart failure, skin pigmentation, and diabetes mellitus). (See "Clinical manifestations and diagnosis of hereditary hemochromatosis".)

There is no reason to expect that HCT will eliminate the excess iron acquired during years of thalassemia. In our experience, serum ferritin and the transferrin saturation slowly return to normal only in patients with a very low iron burden before transplantation [2].

Persistence of tissue iron overload can cause significant morbidity and mortality, such as that seen in hereditary hemochromatosis [3]. As an example, progression of liver disease to cirrhosis has been documented in some patients in the years after transplantation. Thus, iron removal by phlebotomy or chelation is indicated in all transplanted thalassemic patients who have evidence of hepatic iron overload as defined below, except for those with one or more of the following characteristics:


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Literature review current through: Sep 2016. | This topic last updated: May 23, 2016.
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