Article
Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.
Blood cells, molecules & diseases - 1 Mar 2018
Mojzikova Renata, Koralkova Pavla, Holub Dusan, Saxova Zuzana, Pospisilova Dagmar, Prochazkova Daniela, Dzubak Petr, Horvathova Monika, Divoky Vladimir
Abstract excerpt
Glucose-6-phosphate isomerase (GPI) deficiency, a genetic disorder responsible for chronic nonspherocytic hemolytic anemia, is the second most common red blood cell glycolytic enzymopathy. We report three patients from two unrelated families of Czech and Slovak origin with macrocytic hemolytic anemia due to GPI deficiency. The first patient had 15% of residual GPI activity resulting from two new heterozygous...
Topics
- Alleles
- Amino Acid Substitution
- Anemia, Hemolytic, Congenital Nonspherocytic
- Biomarkers
- Biopsy
- Bone Marrow
- Child
- Erythrocyte Indices
- Erythroid Cells
- Erythropoiesis
- Female
- Gene Expression Regulation