Beta Thalassemia Treatment & Management

  • Author: Kenichi Takeshita, MD; Chief Editor: Emmanuel C Besa, MD   more...
 
Updated: Oct 19, 2011
 

Approach Considerations

Thalassemia is an iron-overloading disorder. Therapy with iron is contraindicated in this disease.

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, and allogeneic hematopoietic transplantation. The goal of long-term hypertransfusional support is to maintain the patient's Hb at 9-10 g/dL, thus improving his or her sense of well-being while simultaneously suppressing enhanced erythropoiesis. This strategy not only treats the anemia but also suppresses endogenous erythropoiesis so that extramedullary hematopoiesis and skeletal changes are suppressed. Patients receiving transfusion therapy also require iron chelation with desferrioxamine.

Blood banking considerations for these patients include completely typing their erythrocytes prior to the first transfusion. This procedure helps future crossmatching processes.

Allogeneic hematopoietic transplantation may be curative in some patients with thalassemia major. An Italian group led by Lucarelli has the most experience with this procedure.[3] This group's research documented a 90% long-term survival rate in patients with favorable characteristics (young age, HLA match, no organ dysfunction).

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. 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.

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Surgical Treatment

Splenectomy

Physicians often use splenectomy to decrease transfusion requirements. (Patients with thalassemia minor only rarely require splenectomy.) 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.

Cholecystectomy

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.

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Contributor Information and Disclosures
Author

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.

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: Medscape Salary Employment

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, and Southwest Oncology Group

Disclosure: No financial interests None None

Chief Editor

Emmanuel C Besa, MD  Professor, Department of Medicine, Division of Hematologic Malignancies, 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 College of Clinical Pharmacology, American Federation for Medical Research, American Society of Clinical Oncology, American Society of Hematology, and New York Academy of Sciences

Disclosure: Nothing to disclose.

References

  1. Rachmilewitz EA, Giardina PJ. How I treat thalassemia. Blood. Sep 29 2011;118(13):3479-88. [Medline].

  2. Galanello R, Sanna S, Perseu L, Sollaino MC, Satta S, Lai ME, et al. Amelioration of Sardinian beta0 thalassemia by genetic modifiers. Blood. Oct 29 2009;114(18):3935-7. [Medline]. [Full Text].

  3. Lucarelli G, Galimberti M, Polchi P. Marrow transplantation in patients with thalassemia responsive to iron chelation therapy. N Engl J Med. Sep 16 1993;329(12):840-4. [Medline]. [Full Text].

  4. Olivieri NF, Brittenham GM, McLaren CE, et al. Long-term safety and effectiveness of iron-chelation therapy with deferiprone for thalassemia major. N Engl J Med. Aug 13 1998;339(7):417-23. [Medline]. [Full Text].

  5. [Guideline] Angelucci E, Barosi G, Camaschella C, et al. Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders. Haematologica. May 2008;93(5):741-52. [Medline].

  6. Italia KY, Jijina FJ, Merchant R, et al. Response to hydroxyurea in beta thalassemia major and intermedia: experience in western India. Clin Chim Acta. Sep 2009;407(1-2):10-5. [Medline].

  7. Wilber A, Nienhuis AW, Persons DA. Transcriptional regulation of fetal to adult hemoglobin switching: new therapeutic opportunities. Blood. Apr 14 2011;117(15):3945-53. [Medline]. [Full Text].

  8. Cavazzana-Calvo M, Payen E, Negre O, et al. Transfusion independence and HMGA2 activation after gene therapy of human ß-thalassaemia. Nature. Sep 16 2010;467(7313):318-22. [Medline].

 
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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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