Clinical manifestations of α-thalassemia

Cold Spring Harb Perspect Med. 2013 May 1;3(5):a011742. doi: 10.1101/cshperspect.a011742.


α-Thalassemia mutations affect up to 5% of the world's population. The clinical spectrum ranges from an asymptomatic condition to a fatal in utero disease. Hemoglobin H disease results from mutations of three α-globin genes. Deletional forms result in a relatively mild anemia, whereas nondeletional mutations result in a moderate to severe disease characterized by ineffective erythropoiesis, recurrent transfusions, and growth delay. Hemosiderosis develops secondary to increased iron absorption, as well as transfusion burden. Hemoglobin Bart's hydrops fetalis is usually a fatal in utero disease caused by the absence of α genes. Population screening to identify at-risk couples is essential. Affected pregnancies result in severe fetal and maternal complications. Doppler ultrasonography with intrauterine transfusion therapy may improve the fetal prognosis but creates ethical challenges for the family and health providers.

Publication types

  • Review

MeSH terms

  • Age of Onset
  • Chronic Disease
  • Critical Illness
  • Delayed Diagnosis
  • Female
  • Global Health
  • Heterozygote
  • Humans
  • Hydrops Fetalis / etiology
  • Infant, Newborn
  • Iron Overload / diagnosis
  • Iron Overload / etiology
  • Mutation / genetics*
  • Neonatal Screening
  • Pregnancy
  • Prenatal Diagnosis / methods
  • alpha-Thalassemia / epidemiology
  • alpha-Thalassemia / genetics*
  • alpha-Thalassemia / therapy