How is thalassemia major treated?

Updated: May 07, 2021
  • Author: Pooja Advani, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Treatment for patients with thalassemia major includes the following:

  • Long-term transfusion therapy
  • Erythroid maturation agents (eg, luspatercept)
  • Iron chelation
  • Splenectomy
  • Allogeneic hematopoietic transplantation
  • Supportive measures

Supportive measures include folic acid replacement and monitoring for the development of complications such as pulmonary hypertension, osteoporosis, and bone fractures, poor dentition, heart failure, and aplastic crisis with parvovirus B-19 infection.

Long-term transfusion therapy

The goal of long-term hypertransfusional support is to maintain the patient's hemoglobin level at 9-10 g/dL, thus improving his or her sense of well being while simultaneously suppressing enhanced erythropoiesis. This strategy treats the anemia and suppresses endogenous erythropoiesis so that extramedullary hematopoiesis and skeletal changes are suppressed. Patients receiving long-term transfusion therapy also require iron chelation. (See Medication.)

Blood banking considerations for these patients include completely typing their erythrocytes for Rh and ABO antigens prior to the first transfusion. This procedure helps future cross-matching processes and minimizes the chances of alloimmunization. Transfusion of washed, leukocyte-poor red blood cells (RBCs) at approximately 8-15 mL RBCs per kilogram (kg) of body weight over 1-2 hours is recommended. [12]

Hapgood et al suggest that current recommendations lead to undertransfusion in males. As a result, males may be more likely to have extramedullary hematopoiesis and thus more likely to require splenectomy or to develop spinal cord compression, an uncommon but serious complication of paraspinal extramedullary hematopoiesis. [13]

In their study of 116 patients (51 males and 65 females) with thalassemia major, males were receiving more units of RBCs per transfusion and had a higher annual transfusion volume, but with correction for weight, females were receiving a higher transfused volume per kg: 225 versus 202 mL/kg in males (P=0.028). Erythropoietin (EPO) levels were higher in males: 72 versus 52 mIU/mL (P=0.006). The incidence of splenectomy was higher in males (61%, vs 40% in females; P=0.031). [13]

Hematopoietic stem cell transplantation

Allogeneic hematopoietic transplantation may be curative in some patients with thalassemia major. [14] The first successful allogeneic stem cell transplant from an HLA-identical sibling donor was reported in 1982. [15] An Italian group led by Lucarelli has the most experience with this procedure. [16] This group's research documented a 90% long-term survival rate in patients with favorable characteristics (young age, HLA match, no organ dysfunction).

Transplantation-related issues such as graft versus host disease, graft failure, chronic immunosuppressive therapy, and transplantation-related mortality should be carefully considered prior to proceeding with this approach.

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