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

Result code in 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>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

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

Original language description

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

Czech name

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

Czech description

Hemoglobin Haná byl popsán jako nová nestabilní hemoglobinová varianta nalezená u 3 osob ze 2 generací moravské rodiny (matka a obě dcery). Projevuje se mírnou hemolytickou anémií (HA) s Heinzovými tělísky, zvýšenou hladinou methemoglobinu (12-13%) a retikulocytózou (4-5%) u obou dcer. Jejich matka nesoucí stejnou mutaci je asymptomatická. Bylo prokázáno, že klinické rozdíly nejsou způsobeny různou genovou expresí globinových genů ani poruchou metabolismu železa. ...

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2007

Confidentiality

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

Name of the periodical

Haematologica: the hematology journal

ISSN

0390-6078

e-ISSN

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Volume of the periodical

92

Issue of the periodical within the volume

Suppl. 1

Country of publishing house

IT - ITALY

Number of pages

435

Pages from-to

435

UT code for WoS article

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EID of the result in the Scopus database

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