eMedicine Specialties > Hematology > Red Blood Cells and Disorders

Thalassemia, Beta: Follow-up

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
Contributor Information and Disclosures

Updated: Aug 24, 2009

Follow-up

Further Outpatient Care

See Treatment.

Inpatient & Outpatient Medications

  • Administer iron chelation daily as described under medication.
  • Transfuse red blood cells to maintain the Hb concentration at 9-10 g/dL.

Deterrence/Prevention

  • Prenatal diagnosis is possible by analyzing DNA obtained via chorionic villi sampling at 8-10 weeks of gestation or by amniocentesis at 14-20 weeks of gestation. Since the genetic defects are quite variable, family genotyping usually must be completed for diagnostic linkage (segregation) analysis. With the anticipated availability of large-scale mutation screening by DNA chip technology, extensive pedigree analyses may be obviated. Physicians can perform fetal blood sampling for Hb chain synthesis at 18-22 weeks of gestation, but this procedure is not as reliable as DNA analysis sampling methods.
  • Genetic therapy strategies are currently in the early stages of development.

Complications

  • Iron overload
  • Extramedullary hematopoiesis
  • Asplenia secondary to splenectomy
  • Medical complications from long-term transfusional therapy - Iron overload or transfusion-associated infections (eg, hepatitis)
  • Increased risk for infections resulting from asplenia (eg, encapsulated organisms such as pneumococcus) or from iron overload (eg, Yersinia species)
  • Cholelithiasis (eg, bilirubin stones)

Prognosis

  • Individuals with thalassemia minor (thalassemia trait) usually have asymptomatic mild anemia. This state does not result in mortality or significant morbidity.
  • The prognosis of patients with thalassemia major is highly dependent on the patient's adherence to long-term treatment programs, namely the hypertransfusion program and life-long iron chelation. Allogeneic bone marrow transplantation may be curative.

Patient Education

  • Educate patients with thalassemia minor about the genetic (hereditary) nature of their disease, and inform them that their immediate family members (ie, parents, siblings, children) may be affected. The presence of thalassemia major in both parents implies that children will likely have a form of the disease. (The presence of compound heterozygosity in the parents makes accurate phenotypic predictions for children incomplete).
  • Inform patients with thalassemia minor that they do not have iron deficiency and that iron supplementation will not improve their anemia.

Miscellaneous

Medicolegal Pitfalls

Thalassemia is an iron-overloading disorder. Therapy with iron is contraindicated in this disease. The presence of microcytic anemia is not always due to iron deficiency.

 


More on Thalassemia, Beta

Overview: Thalassemia, Beta
Differential Diagnoses & Workup: Thalassemia, Beta
Treatment & Medication: Thalassemia, Beta
Follow-up: Thalassemia, Beta
Multimedia: Thalassemia, Beta
References
Further Reading
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References

  1. 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].

  2. 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].

  3. Cohen AR, Galanello R, Pennell DJ, et al. Thalassemia. In: Hematology (Am Soc Hematol Educ Program). 2004:14-34.

  4. Forget BG. Thalassemia Syndromes. In: Hematology: Basic Principles and Practice. 2000:485-509.

  5. Fucharoen S, Winichagoon P. Clinical and hematologic aspects of hemoglobin E beta-thalassemia. Current Opinion in Hematology. 2000;7:106-112. [Medline].

  6. Hoffbrand AV, AL-Refaie F, Davis B. Long-term trial of deferiprone in 51 transfusion-dependent iron overloaded patients. Blood. 1998;91:295-300. [Medline].

  7. Ikuta T, Atweh G, Boosalis V. Cellular and molecular effects of a pulse butyrate regimen and new inducers of globin gene expression and hematopoiesis. Ann N Y Acad Sci. 1998;850:87-99. [Medline].

  8. Koshy M, Dorn L, Bressler L. 2-deoxy 5-azacytidine and fetal hemoglobin induction in sickle cell anemia. Blood. 2000;96:2379-2384. [Medline].

  9. Malik P, Arumugam PI. Gene Therapy for {beta}-Thalassemia. In: Hematology (Am Soc Hematol Educ Program). 2005:45-50.

  10. May C, Rivella S, Callegari J. Therapeutic haemoglobin synthesis in beta-thalassaemic mice expressing lentivirus-encoded human beta-globin. Nature. 2000;406:82-86. [Medline].

  11. Perrine SP. Fetal Globin Induction--Can It Cure {beta} Thalassemia?. In: Hematology (Am Soc Hematol Educ Program). 2005:38-44.

  12. Rund D, Rachmilewitz E. Beta-thalassemia. N Engl J Med. Sep 15 2005;353(11):1135-46. [Medline].

  13. Schrier SL, Angelucci E. New strategies in the treatment of the thalassemias. Annu Rev Med. 2005;56:157-71. [Medline].

  14. Thein SL. Pathophysiology of {beta} Thalassemia--A Guide to Molecular Therapies. In: Hematology (Am Soc Hematol Educ Program). 2005:31-7.

  15. Weatherall DJ, Clegg JB. Genetic disorders of hemoglobin. Semin Hematol. Oct 1999;36(4 Suppl 7):24-37. [Medline].

  16. 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].

  17. Tan JA, Tan KL, Omar KZ, et al. Interaction of Hb South Florida (codon 1; GTG-->ATG) and HbE, with beta-thalassemia (IVS1-1; G-->A): expression of different clinical phenotypes. Eur J Pediatr. Sep 2009;168(9):1049-54. [Medline].

  18. Galanello R, Sanna S, Perseu L, et al. Amelioration of Sardinian beta-zero thalassemia by genetic modifiers. Blood. Aug 20 2009;epub ahead of print. [Medline].

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Further Reading

Related eMedicine Topics

Clinical Trials

National Guideline Clearinghouse

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Keywords

beta-thalassemia, beta thalassemia syndromes, Cooley anemia, Mediterranean anemia, thalassemia major, thalassemia intermedia, thalassemia minor, erythroblastic anemia, thalassemia trait, hemoglobin E, hereditary disorder

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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.

Medical Editor

Wadie F Bahou, MD, Chief, Division of Hematology, Hematology/Oncology Fellowship Director, Professor, Department of Internal Medicine, State University of New York at Stony Brook
Wadie F Bahou, MD is a member of the following medical societies: American Society of Hematology
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

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

CME Editor

Rajalaxmi McKenna, MD, FACP, Consulting Staff, Department of Medicine, Southwest Medical Consultants, SC, Good Samaritan Hospital, Advocate Health Systems
Rajalaxmi McKenna, MD, FACP is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology, and International Society on Thrombosis and Haemostasis
Disclosure: Nothing to disclose.

Chief Editor

Emmanuel C Besa, MD, Professor, Department of Medicine, Division of Hematologic Malignancies, Kimmel Cancer Center, 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 Hematology, and New York Academy of Sciences
Disclosure: Nothing to disclose.

 
 
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