Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F18%3A73583080" target="_blank" >RIV/61989592:15110/18:73583080 - isvavai.cz</a>
Alternative codes found
RIV/00098892:_____/18:N0000002
Result on the web
<a href="http://dx.doi.org/10.1016/j.bcmd.2017.04.003" target="_blank" >http://dx.doi.org/10.1016/j.bcmd.2017.04.003</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.bcmd.2017.04.003" target="_blank" >10.1016/j.bcmd.2017.04.003</a>

Result language
angličtina
Original language name
Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.
Original language description
We report three patients of Czech and Slovak origin with macrocytic hemolytic anemia due tu glucose-6-phosphate isomerase deficiency. The low enzyme activity resulting from two new heterozygous missense mutations c.478T>C (p.Ser160Pro) and c.1414C>T (p.Arg472Cys) in the first case and the same homozygous mutation p.Arg472Cys in the case of two other patients/siblings. In all patients the iron overload was present as a result of disturbed balance between erythropoiesis and iron metabolism.
Czech name
—
Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology

Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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