Alpha Thalassemia Differential Diagnoses

Updated: Oct 11, 2022
  • Author: Alexandra C Cheerva, MD, MS; Chief Editor: Hassan M Yaish, MD  more...
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Diagnostic Considerations

During pregnancy, iron and folic acid deficiencies can alter the mean corpuscular volume (MCV). As a result, thalassemia may be difficult to diagnose or exclude during pregnancy. If a strong suspicion exists and if a definitive answer is required, polymerase chain reaction (PCR) evaluation should be performed for globin-chain analysis. Many laboratories now perform a panel for seven alpha thalassemia gene mutations, which could identify the precise genotypic status of the patient.

Pregnant women with hemoglobin H (HbH) disease require special care because women with severe anemia may have serious health problems during their pregnancy, and these problems may adversely affect the health of their fetuses. The incidence of low birth weight is also high in women with HbH disease and severe anemia. [34, 35]

Other problems to be considered include the following:

  • Autoimmune hemolytic anemia

  • Hemoglobin S thalassemia syndrome

  • Hemoglobin E thalassemia syndrome

  • Hemoglobinopathies

  • Hereditary persistence of hemoglobin F (fetal hemoglobin)

  • High hemoglobin F syndromes

  • Nonimmune hemolytic anemia

  • Sideroblastic anemia

Differential Diagnoses