Thalassemia differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shyam Patel [2]


Overview

A variety of diseases can mimic thalassemia. These include sickle cell anemia, iron-deficiency anemia, hemolytic anemia, sideroblastic anemia, anemia of chronic disease, vitamin B12 deficiency, and erythropoietin deficiency. It is important to distinguish amongst these conditions, as each condition has different clinical consequences and treatment considerations.

Differential Diagnosis

Characteristic/Parameter Etiology Mean corpuscular volume Laboratory abnormalities Physical examination Treatment Other associated abnormalities
Thalassemia
Sickle cell anemia
  • Genetic defect resulting in sickled hemoglobin
  • Point mutation in beta-globin chain, converting glutamic acid to valine
  • Abnormal hemoglobin electrophoresis with elevated HbSS fraction
  • Sickled [red blood cells]] on peripheral blood smear
  • Elevated ferritin (due to frequent transfusions and iron overload)
  • Elevated red blood cell mass
  • Folate supplemention
  • Hydroxyurea (to increase fetal hemoglobin production
  • Oxygen supplemention
  • Transfusion support
  • Iron chelation
  • Gene therapy if available
  • Crizanlizumab (P-selectin inhibitor)
  • Patient education and genetic counseling
Iron deficiency anemia
  • Intravenous or oral iron supplementation
  • Blood transfusions
Hemolytic anemia
Sideroblastic anemia

Or

Anemia of chronic disease
Erythropoietin deficiency
  • Epoetin alfa 50-100 units/kg 3 times weekly
  • Darbepoietin 0.45 mcg/kg weekly or 0.75 mcg/kg every 2 weeks[3]
Vitamin B12 or folate deficiency

References

  1. Chui DH, Cunningham MJ, Luo HY, Wolfe LC, Neufeld EJ, Steinberg MH (2006). "Screening and counseling for thalassemia.". Blood. 107 (4): 1735–7. PMC 1895412Freely accessible. PMID 16461765. doi:10.1182/blood-2005-09-3557. 
  2. 2.0 2.1 Gibbons RJ (2012). "α-Thalassemia, mental retardation, and myelodysplastic syndrome.". Cold Spring Harb Perspect Med. 2 (10). PMC 3475406Freely accessible. PMID 23028133. doi:10.1101/cshperspect.a011759. 
  3. Platzbecker U, Symeonidis A, Oliva EN, Goede JS, Delforge M, Mayer J; et al. (2017). "A phase 3 randomized placebo-controlled trial of darbepoetin alfa in patients with anemia and lower-risk myelodysplastic syndromes.". Leukemia. 31 (9): 1944–1950. PMC 5596208Freely accessible. PMID 28626220. doi:10.1038/leu.2017.192. 



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