Article
Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.
International journal of hematology - 1 Feb 2022
Sampagar Abhilasha, Gosavi Manasi, Kedar Prabhakar, Patel Taiseenub, Dongerdiye Rashmi, Mahantashetti Niranjana
Abstract excerpt
Glucose phosphate isomerase (GPI) deficiency is an autosomal recessive condition with mutations in the GPI gene on chromosome 19q13.1. Patients present with congenital non-spherocytic hemolytic anemia, and occasionally intellectual disability. In this study, we describe the clinical, hematological and biochemical parameters in the largest single-center cohort consisting of 17 GPI-deficient cases. Demographic and...
Topics
- Anemia, Hemolytic, Congenital Nonspherocytic
- Child
- Child, Preschool
- Female
- Glucose-6-Phosphate Isomerase
- Humans
- Infant
- Male
- Mutation
- Point Mutation
- Polymorphism, Restriction Fragment Length