Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
28803808
DOI
10.1016/j.bcmd.2017.04.003
PII: S1079-9796(17)30052-9
Knihovny.cz E-zdroje
- Klíčová slova
- Dysplastic erythropoiesis, Glucose-6-phosphate isomerase deficiency, Hemolytic anemia, Hepcidin to ferritin ratio, Iron loading, Soluble transferrin receptor,
- MeSH
- alely MeSH
- biologické markery MeSH
- biopsie MeSH
- dítě MeSH
- erytrocytární znaky MeSH
- erytroidní buňky metabolismus MeSH
- erytropoéza genetika MeSH
- genotyp MeSH
- glukosa-6-fosfátisomerasa chemie genetika MeSH
- hemolytická nesférocytická kongenitální anemie krev diagnóza genetika MeSH
- hepcidiny krev MeSH
- konformace proteinů MeSH
- kostní dřeň patologie MeSH
- lidé MeSH
- molekulární modely MeSH
- mutace * MeSH
- regulace genové exprese MeSH
- sekvenční analýza DNA MeSH
- substituce aminokyselin * MeSH
- vztahy mezi strukturou a aktivitou MeSH
- železo metabolismus MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- biologické markery MeSH
- glukosa-6-fosfátisomerasa MeSH
- hepcidiny MeSH
- železo 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
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