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Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin
R. Mojzikova, P. Koralkova, D. Holub, Z. Saxova, D. Pospisilova, D. Prochazkova, P. Dzubak, M. Horvathova, V. Divoky,
Language English Country United States
Document type Journal Article, Research Support, Non-U.S. Gov't
- MeSH
- Alleles MeSH
- Biomarkers MeSH
- Biopsy MeSH
- Child MeSH
- Erythrocyte Indices MeSH
- Erythroid Cells metabolism MeSH
- Erythropoiesis genetics MeSH
- Genotype MeSH
- Glucose-6-Phosphate Isomerase chemistry genetics MeSH
- Anemia, Hemolytic, Congenital Nonspherocytic blood diagnosis genetics MeSH
- Hepcidins blood MeSH
- Protein Conformation MeSH
- Bone Marrow pathology MeSH
- Humans MeSH
- Models, Molecular MeSH
- Mutation * MeSH
- Gene Expression Regulation MeSH
- Sequence Analysis, DNA MeSH
- Amino Acid Substitution * MeSH
- Structure-Activity Relationship MeSH
- Iron metabolism MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
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 missense mutations c.478T>C and c.1414C>T leading to substitutions p.(Ser160Pro) and p.(Arg472Cys). Two other patients (siblings) inherited the same c.1414C>T p.(Arg472Cys) mutation in a homozygous constitution and lost approximately 89% of their GPI activity. Erythroid hyperplasia with dysplastic features was observed in the bone marrow of all three patients. Low hepcidin/ferritin ratio and elevated soluble transferrin receptor detected in our GPI-deficient patients suggest disturbed balance between erythropoiesis and iron metabolism contributing to iron overload.
Department of Biology Faculty of Medicine and Dentistry Palacky University Olomouc Czech Republic
Department of Pediatrics Masaryk Hospital in Usti nad Labem Czech Republic
References provided by Crossref.org
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- $a 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 missense mutations c.478T>C and c.1414C>T leading to substitutions p.(Ser160Pro) and p.(Arg472Cys). Two other patients (siblings) inherited the same c.1414C>T p.(Arg472Cys) mutation in a homozygous constitution and lost approximately 89% of their GPI activity. Erythroid hyperplasia with dysplastic features was observed in the bone marrow of all three patients. Low hepcidin/ferritin ratio and elevated soluble transferrin receptor detected in our GPI-deficient patients suggest disturbed balance between erythropoiesis and iron metabolism contributing to iron overload.
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