Article
A Rare Heterozygote with a Novel IVS-Ⅱ-786 (T>A) Mutation on β-Globin Gene in a Patient with Thalassemia.
Clinical laboratory - 1 Dec 2023
Liu Hou-Ming, Wu Chang-Lin, Yi Pin
Abstract excerpt
BACKGROUND: Thalassemia is an inherited hemolytic blood disease, whose pathogenesis is an imbalance in the expression of hemoglobin. We report a case of a rare β-globin gene intron mutation for thalassemia patient. METHODS: The blood routine test was performed with an automatic blood cell analyzer. Hb analysis was conducted by hemoglobin (Hb) analyzer. The common β-thalassemia and α-thalassemia gene mutations...
Topics
- Humans
- Heterozygote
- beta-Thalassemia
- Mutation
- Hemoglobins
- beta-Globins