Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, β63(E7) His-Asn)
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. Asse...
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| Veröffentlicht in: | Blood cells, molecules, & diseases molecules, & diseases, 2010-10, Vol.45 (3), p.219-222 |
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| creator | Mojzikova, Renata Dolezel, Petr Pavlicek, Jiri Mlejnek, Petr Pospisilova, Dagmar Divoky, Vladimir |
| description | 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. |
| doi_str_mv | 10.1016/j.bcmd.2010.07.003 |
| format | Article |
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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.</description><identifier>ISSN: 1079-9796</identifier><identifier>EISSN: 1096-0961</identifier><identifier>DOI: 10.1016/j.bcmd.2010.07.003</identifier><identifier>PMID: 20692194</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Amino Acid Substitution ; Anemia, Hemolytic - blood ; Anemia, Hemolytic - drug therapy ; Anemia, Hemolytic - genetics ; Family ; Female ; Flavin-Adenine Dinucleotide - pharmacology ; Glutathione - metabolism ; Glutathione reductase ; Glutathione Reductase - genetics ; Glutathione Reductase - metabolism ; Heinz Bodies ; Hemoglobinopathies - blood ; Hemoglobinopathies - drug therapy ; Hemoglobinopathies - genetics ; Hemoglobins, Abnormal - genetics ; Humans ; Male ; Mutation, Missense ; Riboflavin ; Riboflavin - administration & dosage ; Unstable hemoglobin ; Vitamin B Complex - administration & dosage</subject><ispartof>Blood cells, molecules, & diseases, 2010-10, Vol.45 (3), p.219-222</ispartof><rights>2010 Elsevier Inc.</rights><rights>Copyright © 2010 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c355t-cb4e52757fd700186e38fb145d191176d39cc572614076d26bd9b8871614260b3</citedby><cites>FETCH-LOGICAL-c355t-cb4e52757fd700186e38fb145d191176d39cc572614076d26bd9b8871614260b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1079979610001609$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20692194$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mojzikova, Renata</creatorcontrib><creatorcontrib>Dolezel, Petr</creatorcontrib><creatorcontrib>Pavlicek, Jiri</creatorcontrib><creatorcontrib>Mlejnek, Petr</creatorcontrib><creatorcontrib>Pospisilova, Dagmar</creatorcontrib><creatorcontrib>Divoky, Vladimir</creatorcontrib><title>Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, β63(E7) His-Asn)</title><title>Blood cells, molecules, & diseases</title><addtitle>Blood Cells Mol Dis</addtitle><description>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.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Amino Acid Substitution</subject><subject>Anemia, Hemolytic - blood</subject><subject>Anemia, Hemolytic - drug therapy</subject><subject>Anemia, Hemolytic - genetics</subject><subject>Family</subject><subject>Female</subject><subject>Flavin-Adenine Dinucleotide - pharmacology</subject><subject>Glutathione - metabolism</subject><subject>Glutathione reductase</subject><subject>Glutathione Reductase - genetics</subject><subject>Glutathione Reductase - metabolism</subject><subject>Heinz Bodies</subject><subject>Hemoglobinopathies - blood</subject><subject>Hemoglobinopathies - drug therapy</subject><subject>Hemoglobinopathies - genetics</subject><subject>Hemoglobins, Abnormal - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Mutation, Missense</subject><subject>Riboflavin</subject><subject>Riboflavin - administration & dosage</subject><subject>Unstable hemoglobin</subject><subject>Vitamin B Complex - administration & dosage</subject><issn>1079-9796</issn><issn>1096-0961</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9UUtuFDEUbCEiEgIXYIG8I5Howe4e220pmygKmUiRYAFry5_XGY_c7mB3B81t4ApcgT1nyhsmwI6F5ffKVSWVq6peMbpglIl3m4V1g180FAEqF5S2T6ojRpWo8bCnu1mqWkklDqvnpWwopYyp7ll12FChGqaWR9W3jyZPwURyG-fJTOswJiAZ_OwmU4B46IMLkNyWmEIMcWZGdOyJD_eQcXQxpOBQP5gUeijogRaFhITs3gwhbsnXMK3JnPDNRiBrGMbbOFpknKz-zSuTfn5_S379EO3JpTwlq1Dq85JOX1QHvYkFXj7ex9Xn95efLlb1zYer64vzm9q1nE-1s0vgjeSy9xJjdgLarrdsyT1TjEnhW-Ucl41gS4pbI6xXtuskQ6AR1LbH1Zu9710ev8wYRA-hOIjRJBjnoiXnTCjZcWQ2e6bLYykZen2Xw2DyVjOqd8Xojd4Vo3fFaCo1FoOi14_2sx3A_5X8aQIJZ3sCYMj7AFmX3x8PPmRwk_Zj-J__A77LoGg</recordid><startdate>20101015</startdate><enddate>20101015</enddate><creator>Mojzikova, Renata</creator><creator>Dolezel, Petr</creator><creator>Pavlicek, Jiri</creator><creator>Mlejnek, Petr</creator><creator>Pospisilova, Dagmar</creator><creator>Divoky, Vladimir</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20101015</creationdate><title>Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, β63(E7) His-Asn)</title><author>Mojzikova, Renata ; Dolezel, Petr ; Pavlicek, Jiri ; Mlejnek, Petr ; Pospisilova, Dagmar ; Divoky, Vladimir</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c355t-cb4e52757fd700186e38fb145d191176d39cc572614076d26bd9b8871614260b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Amino Acid Substitution</topic><topic>Anemia, Hemolytic - blood</topic><topic>Anemia, Hemolytic - drug therapy</topic><topic>Anemia, Hemolytic - genetics</topic><topic>Family</topic><topic>Female</topic><topic>Flavin-Adenine Dinucleotide - pharmacology</topic><topic>Glutathione - metabolism</topic><topic>Glutathione reductase</topic><topic>Glutathione Reductase - genetics</topic><topic>Glutathione Reductase - metabolism</topic><topic>Heinz Bodies</topic><topic>Hemoglobinopathies - blood</topic><topic>Hemoglobinopathies - drug therapy</topic><topic>Hemoglobinopathies - genetics</topic><topic>Hemoglobins, Abnormal - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Mutation, Missense</topic><topic>Riboflavin</topic><topic>Riboflavin - administration & dosage</topic><topic>Unstable hemoglobin</topic><topic>Vitamin B Complex - administration & dosage</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mojzikova, Renata</creatorcontrib><creatorcontrib>Dolezel, Petr</creatorcontrib><creatorcontrib>Pavlicek, Jiri</creatorcontrib><creatorcontrib>Mlejnek, Petr</creatorcontrib><creatorcontrib>Pospisilova, Dagmar</creatorcontrib><creatorcontrib>Divoky, Vladimir</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Blood cells, molecules, & diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mojzikova, Renata</au><au>Dolezel, Petr</au><au>Pavlicek, Jiri</au><au>Mlejnek, Petr</au><au>Pospisilova, Dagmar</au><au>Divoky, Vladimir</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, β63(E7) His-Asn)</atitle><jtitle>Blood cells, molecules, & diseases</jtitle><addtitle>Blood Cells Mol Dis</addtitle><date>2010-10-15</date><risdate>2010</risdate><volume>45</volume><issue>3</issue><spage>219</spage><epage>222</epage><pages>219-222</pages><issn>1079-9796</issn><eissn>1096-0961</eissn><abstract>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.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>20692194</pmid><doi>10.1016/j.bcmd.2010.07.003</doi><tpages>4</tpages></addata></record> |
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| subjects | Adolescent Adult Amino Acid Substitution Anemia, Hemolytic - blood Anemia, Hemolytic - drug therapy Anemia, Hemolytic - genetics Family Female Flavin-Adenine Dinucleotide - pharmacology Glutathione - metabolism Glutathione reductase Glutathione Reductase - genetics Glutathione Reductase - metabolism Heinz Bodies Hemoglobinopathies - blood Hemoglobinopathies - drug therapy Hemoglobinopathies - genetics Hemoglobins, Abnormal - genetics Humans Male Mutation, Missense Riboflavin Riboflavin - administration & dosage Unstable hemoglobin Vitamin B Complex - administration & dosage |
| title | Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, β63(E7) His-Asn) |
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