Article
Clinical manifestations of α-thalassemia.
Cold Spring Harbor perspectives in medicine - 1 May 2013
Vichinsky Elliott P
Abstract excerpt
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...
Topics
- Age of Onset
- Chronic Disease
- Critical Illness
- Delayed Diagnosis
- Female
- Global Health
- Heterozygote
- Humans
- Hydrops Fetalis
- Infant, Newborn
- Iron Overload
- Mutation