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Beta Thalassemia Treatment & Management

  • Author: Pooja Advani, MD; Chief Editor: Emmanuel C Besa, MD  more...
Updated: Dec 24, 2015

Approach Considerations

The therapeutic approach to thalassemia varies between thalassemia minor and thalassemia major.

Thalassemia minor

Patients with thalassemia minor usually do not require any specific treatment. Inform patients that their condition is hereditary and that physicians sometimes mistake the disorder for iron deficiency. Some pregnant patients with the beta thalassemia trait may develop concurrent iron deficiency and severe anemia; they may require transfusional support if they are not responsive to iron repletion modalities.

Thalassemia major

Treatment for patients with thalassemia major includes chronic transfusion therapy, iron chelation, splenectomy, allogeneic hematopoietic transplantation, and supportive measures. Emerging therapies include pharmacologic agents that induce fetal hemoglobin, Jak2 inhibitors to reverse splenomegaly, hepcidin-related compounds to improve iron metabolism, and gene therapy aimed at delivering the beta globin gene into cells by a viral vector.[6]

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.[7]

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.[8]

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).[8]

Hematopoietic stem cell transplantation

Allogeneic hematopoietic transplantation may be curative in some patients with thalassemia major. The first successful allogeneic stem cell transplant from an HLA-identical sibling donor was reported in 1982.[9] An Italian group led by Lucarelli has the most experience with this procedure.[10] 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.

Diet and activity

Drinking tea may help to reduce iron absorption through the intestinal tract. Vitamin C may improve iron excretion in patients receiving iron chelation, especially with deferoxamine.[11] However, anecdotal reports suggest that large doses of vitamin C can cause fatal arrhythmias when administered without concomitant infusion of deferoxamine.

Patient activity may be limited secondary to severe anemia.


Surgical Treatment


Physicians often use splenectomy to decrease transfusion requirements. (Patients with thalassemia minor only rarely require splenectomy.) Splenectomy is recommended when the calculated annual transfusion requirement is greater than 200-220 mL RBCs/kg/y with a hematocrit value of 70%.[7] The purpose of splenectomy is to reduce the transfusion requirements and the resultant iron overload. Splenectomy also prevents extramedullary hematopoiesis.

Because postsplenectomy sepsis is possible, defer this procedure until the patient is older than 6-7 years. In addition, to minimize the risk of postsplenectomy sepsis, vaccinate the patient against Pneumococcus species, Meningococcus species, and Haemophilus influenzae. Administer penicillin prophylaxis to children after splenectomy. Postsplenectomy thrombocytosis can increase the risk of thrombotic events. The risk-to-benefit ratio for this procedure should be cautiously evaluated.


Patients with thalassemia minor may have bilirubin stones in their gallbladder and, if symptomatic, may require treatment. Perform a cholecystectomy using a laparoscope or carry out the procedure at the same time as the splenectomy.

Contributor Information and Disclosures

Pooja Advani, MD Clinical Fellow, Department of Hematology/Oncology, Mayo Clinic

Pooja Advani, MD is a member of the following medical societies: American Society of Hematology, American Society of Clinical Oncology, Florida Society of Clinical Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Marcel E Conrad, MD Distinguished Professor of Medicine (Retired), University of South Alabama College of Medicine

Marcel E Conrad, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement of Science, American Association of Blood Banks, American Chemical Society, American College of Physicians, American Physiological Society, American Society for Clinical Investigation, American Society of Hematology, Association of American Physicians, Association of Military Surgeons of the US, International Society of Hematology, Society for Experimental Biology and Medicine, SWOG

Disclosure: Partner received none from No financial interests for none.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.


Kenichi Takeshita, MD Adjunct Associate Professor, Department of Medicine, Division of Hematology, New York University School of Medicine; Medical Director, Clinical Research and Development, Celgene

Kenichi Takeshita, MD is a member of the following medical societies: American Society of Hematology

Disclosure: Nothing to disclose.

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Peripheral smear in beta-zero thalassemia minor showing microcytes (M), target cells (T), and poikilocytes.
Peripheral smear from a patient with beta-zero thalassemia major showing more marked microcytosis (M) and anisopoikilocytosis (P) than in thalassemia minor. Target cells (T) and hypochromia are prominent.
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