About: Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, beta63(E7) His-Asn).

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About: Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, beta63(E7) His-Asn). Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Hemoglobin Haná [?63(E7) His-Asn] is an unstable hemoglobin variant that was described in a Czech proband and her sister with Heinz body hemolytic anemia. The mother bearing the same mutation was asymptomatic; nevertheless, all three carriers had the same proportion of the mutant globin chains. Assessment of several erythrocyte antioxidant parameters revealed that both symptomatic children, unlike their asymptomatic mother, had significantly decreased glutathione reductase (GR) activity. Their GR activities were restorable in vitro by flavin adenine dinucleotide. The riboflavin supplementation improved their glutathione metabolism and ameliorated their hemolysis. Pre- and post-treatment assessment of the B(2) vitamers indicated suboptimal pre-treatment vitamin B(2) status in both children. This study provides evidence that partial GR deficiency may alter the clinical manifestation of an unstable hemoglobinopathy. Hemoglobin Haná [?63(E7) His-Asn] is an unstable hemoglobin variant that was described in a Czech proband and her sister with Heinz body hemolytic anemia. The mother bearing the same mutation was asymptomatic; nevertheless, all three carriers had the same proportion of the mutant globin chains. Assessment of several erythrocyte antioxidant parameters revealed that both symptomatic children, unlike their asymptomatic mother, had significantly decreased glutathione reductase (GR) activity. Their GR activities were restorable in vitro by flavin adenine dinucleotide. The riboflavin supplementation improved their glutathione metabolism and ameliorated their hemolysis. Pre- and post-treatment assessment of the B(2) vitamers indicated suboptimal pre-treatment vitamin B(2) status in both children. This study provides evidence that partial GR deficiency may alter the clinical manifestation of an unstable hemoglobinopathy. (en)
Title	Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, beta63(E7) His-Asn). Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, beta63(E7) His-Asn). (en)
skos:prefLabel	Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, beta63(E7) His-Asn). Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, beta63(E7) His-Asn). (en)
skos:notation	RIV/61989592:15110/10:10211971!RIV11-MZ0-15110___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NS9935), Z(MSM6198959205), Z(MSM6198959216)
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	MLEJNEK, Petr DOLEŽEL, Petr Pospíšilová, Dagmar DIVOKÝ, Vladimír MOJZÍKOVÁ, Renáta
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Palackého v Olomouci / Lékařská fakulta
http://linked.open...dnocenehoVysledku	278146
http://linked.open...ai/riv/idVysledku	RIV/61989592:15110/10:10211971
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	riboflavin; glutathione reductase; unstable hemoglobin (en)
http://linked.open.../riv/klicoveSlovo	glutathione reductase riboflavin unstable hemoglobin
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[5A03F934C5FF]
http://linked.open...i/riv/nazevZdroje	Blood Cells Mol Dis
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...vavai/riv/projekt	Molecular pathophysiology of congenital defects of red blood cell production
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	45
http://linked.open...iv/tvurceVysledku	DOLEŽEL, Petr MLEJNEK, Petr DIVOKÝ, Vladimír MOJZÍKOVÁ, Renáta POSPÍŠILOVÁ, Dagmar PAVLÍČEK, Jiří
http://linked.open...n/vavai/riv/zamer	Studies of genes and molecular mechanisms involved in regulation of hematopoiesis, their clinical impact and targeted treatment Modulation of signalling and regulatory pathways in normal and cancer cells
issn	1079-9796
number of pages	4 (xsd:int)
http://localhost/t...ganizacniJednotka	15110

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