alpha-thalassemia
Inherited hemoglobin disorder caused by deletions or mutations in alpha-globin genes, resulting in reduced alpha-chain production.
Full Definition
Alpha-thalassemia encompasses a group of inherited hemoglobin disorders caused by reduced synthesis of alpha-globin chains due to gene deletions or, less commonly, mutations. The severity depends on the number of affected alpha-globin genes (normally four total). Silent carrier state involves one gene deletion, alpha-thalassemia trait involves two deletions, HbH disease involves three deletions, and Hb Bart's hydrops fetalis syndrome involves all four deletions. The condition is particularly common in populations from Southeast Asia, the Mediterranean, and Africa.
Usage
Usage note: Always hyphenate. Can use α-thalassemia symbol in technical contexts. Specify gene deletion number when known.
In Context
- "Genetic testing confirmed alpha-thalassemia trait with a two-gene deletion." — Genetics consultation
- "Alpha-thalassemia should be considered in the differential diagnosis of microcytic anemia." — Hematology teaching rounds