Beta Thalassemia Differential Diagnoses

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

Diagnostic Considerations

A major diagnostic consideration is to distinguish mild microcytic anemia due to beta-thalassemia carrier state versus other causes of microcytic anemia. Iron studies (iron, transferrin, ferritin) are useful in excluding iron deficiency and the anemia of chronic disorders as the cause of the patient's anemia. The Mentzer index is defined as mean corpuscular volume per red cell count. An index of less than 13 suggests that the patient has the thalassemia trait, and an index of more than 13 suggests that the patient has iron deficiency.

Alpha thalassemia is another known cause of mild microcytic anemia. Alpha thalassemia is characterized by genetic defects in the alpha-globin gene, and this variant has features similar to those of beta thalassemia. In contrast to beta-thalassemia minor (carrier) patients who have elevated levels of Hb A2 (2 alpha-globin chains complexed with 2 delta-globin chains), patients with alpha-thalassemia have normal levels of Hb. Establishing the diagnosis of the alpha-thalassemia trait is often a diagnosis of exclusion; definitive diagnosis requires measuring either the alpha-beta chain synthesis ratio or performing genetic tests of the alpha-globin cluster (using Southern blot or polymerase chain reaction [PCR] assay tests).

Unstable Hb levels and some types of red cell membrane disorders are other conditions to consider in the differential diagnosis of beta-thalassemia.

Differential Diagnoses

  • Anemia of Chronic Disease and Renal Failure
  • Lead Nephropathy
  • Lead poisoning
  • Sideroblastic Anemias
Proceed to Workup
 
 
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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