Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, β63(E7) His-Asn)
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
PubMed
20692194
DOI
10.1016/j.bcmd.2010.07.003
PII: S1079-9796(10)00160-9
Knihovny.cz E-zdroje
- MeSH
- dospělí MeSH
- flavinadenindinukleotid farmakologie MeSH
- glutathion metabolismus MeSH
- glutathionreduktasa genetika metabolismus MeSH
- Heinzova tělíska * MeSH
- hemoglobinopatie krev farmakoterapie genetika MeSH
- hemoglobiny abnormální genetika MeSH
- hemolytické anemie * krev farmakoterapie genetika MeSH
- lidé MeSH
- missense mutace * MeSH
- mladiství MeSH
- riboflavin aplikace a dávkování MeSH
- rodina * MeSH
- substituce aminokyselin MeSH
- vitamin B komplex aplikace a dávkování MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- flavinadenindinukleotid MeSH
- glutathion MeSH
- glutathionreduktasa MeSH
- hemoglobiny abnormální MeSH
- riboflavin MeSH
- vitamin B komplex MeSH
Hemoglobin Haná [β63(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.
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