Modifikace fenotypu nestabilní hemoglobinopatie (Hemoglobin Hana [?2?2 63 (E7) His-Asn)]) způsobená částečnou deficiencí glutathion reduktázy

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F07%3A00004481" target="_blank" >RIV/61989592:15110/07:00004481 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Modification of phenotype of unstable hemoglobinopathy (Hemoglobin Hana [?2?2 63 (E7) His-Asn)]) by partial glutathione reductase deficiency

Popis výsledku v původním jazyce

Hemoglobin Hana [?2?2 63 (E7) His-Asn)] was described in a Moravian family from the Czech Republic as an unstable hemoglobin variant with mild Heinz body hemolytic anemia, elevated levels of methemoglobin (12-13%), and variable reticulocytosis (1.8-11%)in the proband and her sister. Their mother was asymptomatic, although she expressed the same aberrant variant of the globin gene. No differences in the globin gene expression were detected. Iron metabolism indices were within normal range in all familymembers. To test whether the erythrocyte antioxidant capacity affects severity of this unstable hemoglobinopathy, key erythrocyte antioxidant parameters, including reduced (GSH) and oxidized glutathione (GSSG), activity of NADH-cytochrome b5 reductase, glucose-6-phosphate dehydrogenase, superoxide dismutase, catalase, glutathione peroxidase and glutathione reductase were examined. Our results revealed that erythrocytes of both children (in contrast to their mother) exhibited lower G

Název v anglickém jazyce

Modification of phenotype of unstable hemoglobinopathy (Hemoglobin Hana [?2?2 63 (E7) His-Asn)]) by partial glutathione reductase deficiency

Popis výsledku anglicky

Hemoglobin Hana [?2?2 63 (E7) His-Asn)] was described in a Moravian family from the Czech Republic as an unstable hemoglobin variant with mild Heinz body hemolytic anemia, elevated levels of methemoglobin (12-13%), and variable reticulocytosis (1.8-11%)in the proband and her sister. Their mother was asymptomatic, although she expressed the same aberrant variant of the globin gene. No differences in the globin gene expression were detected. Iron metabolism indices were within normal range in all familymembers. To test whether the erythrocyte antioxidant capacity affects severity of this unstable hemoglobinopathy, key erythrocyte antioxidant parameters, including reduced (GSH) and oxidized glutathione (GSSG), activity of NADH-cytochrome b5 reductase, glucose-6-phosphate dehydrogenase, superoxide dismutase, catalase, glutathione peroxidase and glutathione reductase were examined. Our results revealed that erythrocytes of both children (in contrast to their mother) exhibited lower G

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FD - Onkologie a hematologie

OECD FORD obor

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Projekt

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Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2007

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Haematologica: the hematology journal

ISSN

0390-6078

e-ISSN

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Svazek periodika

92

Číslo periodika v rámci svazku

Suppl. 1

Stát vydavatele periodika

IT - Italská republika

Počet stran výsledku

435

Strana od-do

435

Kód UT WoS článku

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EID výsledku v databázi Scopus

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