Article
Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia.
Hemoglobin - 1 Jul 2024
Chiguer Amal, Lyahyai Jaber, El Kadiri Youssef, Cherkaoui Jaouad Imane, Doubaj Yassamine, Sefiani Abdelaziz
Abstract excerpt
Congenital hemolytic anemia (CHA) is defined as the premature destruction of red blood cells (RBC) due to congenital or acquired defects. The hereditary form of hemolytic anemia can be divided into hemoglobinopathies, membranopathies, and enzymopathies. Hereditary spherocytosis (HS) is the most common inherited RBC membranopathy leading to congenital hemolytic anemia. To date; five genes have been associated with...
Topics
- Humans
- Spherocytosis, Hereditary
- Spectrin
- Exome Sequencing
- Mutation
- Male
- Female
- Anemia, Hemolytic, Congenital
- Child
- Child, Preschool
- Infant