Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, β63(E7) His-Asn)
Language English Country United States Media print-electronic
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
20692194
DOI
10.1016/j.bcmd.2010.07.003
PII: S1079-9796(10)00160-9
Knihovny.cz E-resources
- MeSH
- Adult MeSH
- Flavin-Adenine Dinucleotide pharmacology MeSH
- Glutathione metabolism MeSH
- Glutathione Reductase genetics metabolism MeSH
- Heinz Bodies * MeSH
- Hemoglobinopathies blood drug therapy genetics MeSH
- Hemoglobins, Abnormal genetics MeSH
- Anemia, Hemolytic * blood drug therapy genetics MeSH
- Humans MeSH
- Mutation, Missense * MeSH
- Adolescent MeSH
- Riboflavin administration & dosage MeSH
- Family * MeSH
- Amino Acid Substitution MeSH
- Vitamin B Complex administration & dosage MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Flavin-Adenine Dinucleotide MeSH
- Glutathione MeSH
- Glutathione Reductase MeSH
- Hemoglobins, Abnormal MeSH
- Riboflavin MeSH
- Vitamin B Complex 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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