G6PD Deficiency and Chronic Hemolysis: Four New Mutants—Relationships Between Clinical Syndrome and Enzyme Kinetics
G6PD deficiency of the common type (GdA- and GdMediterranean) results in extremely mild chronic hemolysis. In contrast, 65 males (from 47 unrelated families) have been reported with a different syndrome of severe chronic hemolysis associated with a superficially similar deficiency in the activity of...
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| Veröffentlicht in: | Blood 1971-08, Vol.38 (2), p.205-218 |
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| creator | Rattazzi, Mario C. Corash, Laurence M. van Zanen, George E. Jaffé, Ernst R. Piomelli, Sergio |
| description | G6PD deficiency of the common type (GdA- and GdMediterranean) results in extremely mild chronic hemolysis. In contrast, 65 males (from 47 unrelated families) have been reported with a different syndrome of severe chronic hemolysis associated with a superficially similar deficiency in the activity of G6PD. Five new such patients (from four unrelated families) are reported. Biochemical characterization of the erythrocyte G6PD from these patients indicates that these four mutant enzymes are different from each other and from previously reported variants. These new mutants have tentatively been named G6PD New York, G6PD Englewood, G6PD Rotterdam and G6PD Den Haag. The congenital nonspherocytic hemolytic anemias associated with G6PD deficiency appear to be an extremely heterogeneous group from the point of view of biochemical kinetics. The relationships between the clinical syndrome and the various biochemical enzyme characteristics are discussed in the light of the information presently available. |
| doi_str_mv | 10.1182/blood.V38.2.205.205 |
| format | Article |
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In contrast, 65 males (from 47 unrelated families) have been reported with a different syndrome of severe chronic hemolysis associated with a superficially similar deficiency in the activity of G6PD. Five new such patients (from four unrelated families) are reported. Biochemical characterization of the erythrocyte G6PD from these patients indicates that these four mutant enzymes are different from each other and from previously reported variants. These new mutants have tentatively been named G6PD New York, G6PD Englewood, G6PD Rotterdam and G6PD Den Haag. The congenital nonspherocytic hemolytic anemias associated with G6PD deficiency appear to be an extremely heterogeneous group from the point of view of biochemical kinetics. The relationships between the clinical syndrome and the various biochemical enzyme characteristics are discussed in the light of the information presently available.</description><identifier>ISSN: 0006-4971</identifier><identifier>EISSN: 1528-0020</identifier><identifier>DOI: 10.1182/blood.V38.2.205.205</identifier><identifier>PMID: 4397482</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Anemia, Hemolytic, Congenital - enzymology ; Anemia, Hemolytic, Congenital - etiology ; Cell Survival ; Child ; Child, Preschool ; Chromium Isotopes ; Erythrocytes - enzymology ; Exchange Transfusion, Whole Blood ; Female ; Glucosephosphate Dehydrogenase - blood ; Glucosephosphate Dehydrogenase - classification ; Glucosephosphate Dehydrogenase - isolation & purification ; Glucosephosphate Dehydrogenase Deficiency - complications ; Humans ; Infant, Newborn ; Jaundice, Neonatal - therapy ; Male ; Mutation ; NADP - metabolism</subject><ispartof>Blood, 1971-08, Vol.38 (2), p.205-218</ispartof><rights>1971 American Society of Hematology</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3145-1091c7dfdb1f7f17e71ab910eb1a82d084dc0d29d963415f4494f599f7e256a3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27922,27923</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/4397482$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rattazzi, Mario C.</creatorcontrib><creatorcontrib>Corash, Laurence M.</creatorcontrib><creatorcontrib>van Zanen, George E.</creatorcontrib><creatorcontrib>Jaffé, Ernst R.</creatorcontrib><creatorcontrib>Piomelli, Sergio</creatorcontrib><title>G6PD Deficiency and Chronic Hemolysis: Four New Mutants—Relationships Between Clinical Syndrome and Enzyme Kinetics</title><title>Blood</title><addtitle>Blood</addtitle><description>G6PD deficiency of the common type (GdA- and GdMediterranean) results in extremely mild chronic hemolysis. In contrast, 65 males (from 47 unrelated families) have been reported with a different syndrome of severe chronic hemolysis associated with a superficially similar deficiency in the activity of G6PD. Five new such patients (from four unrelated families) are reported. Biochemical characterization of the erythrocyte G6PD from these patients indicates that these four mutant enzymes are different from each other and from previously reported variants. These new mutants have tentatively been named G6PD New York, G6PD Englewood, G6PD Rotterdam and G6PD Den Haag. The congenital nonspherocytic hemolytic anemias associated with G6PD deficiency appear to be an extremely heterogeneous group from the point of view of biochemical kinetics. The relationships between the clinical syndrome and the various biochemical enzyme characteristics are discussed in the light of the information presently available.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Anemia, Hemolytic, Congenital - enzymology</subject><subject>Anemia, Hemolytic, Congenital - etiology</subject><subject>Cell Survival</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromium Isotopes</subject><subject>Erythrocytes - enzymology</subject><subject>Exchange Transfusion, Whole Blood</subject><subject>Female</subject><subject>Glucosephosphate Dehydrogenase - blood</subject><subject>Glucosephosphate Dehydrogenase - classification</subject><subject>Glucosephosphate Dehydrogenase - isolation & purification</subject><subject>Glucosephosphate Dehydrogenase Deficiency - complications</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Jaundice, Neonatal - therapy</subject><subject>Male</subject><subject>Mutation</subject><subject>NADP - metabolism</subject><issn>0006-4971</issn><issn>1528-0020</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1971</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMuKFTEQhoMo43H0CUTIyl0fU-n0JYILPXMTxws6uA3ppMJEupNj0u3QrnwIn9Ansc8Fly6KKvgvUB8hT4GtAVr-outjtOuvZbvma86q3dwjK6h4WzDG2X2yYozVhZANPCSPcv7GGIiSVyfkRJSyES1fkemy_nRGz9B54zGYmepg6eY2xeANvcIh9nP2-SW9iFOiH_COvp9GHcb859fvz9jr0ceQb_020zc43iEGuun9EtU9_TIHm-KA-8bz8HNeznc-4OhNfkweON1nfHLcp-Tm4vxmc1Vcf7x8u3l9XZgSRFUAk2Aa62wHrnHQYAO6k8CwA91yy1phDbNcWlmXAionhBSuktI1yKtal6fk-aF2m-L3CfOoBp8N9r0OGKesGiF5DUIuxvJgNCnmnNCpbfKDTrMCpnas1Z61WlgrrhbOu1lSz471Uzeg_Zc5wl30Vwcdlxd_eEwq7yGj9QnNqGz0_-3_C_wmkkM</recordid><startdate>197108</startdate><enddate>197108</enddate><creator>Rattazzi, Mario C.</creator><creator>Corash, Laurence M.</creator><creator>van Zanen, George E.</creator><creator>Jaffé, Ernst R.</creator><creator>Piomelli, Sergio</creator><general>Elsevier Inc</general><scope>6I.</scope><scope>AAFTH</scope><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>197108</creationdate><title>G6PD Deficiency and Chronic Hemolysis: Four New Mutants—Relationships Between Clinical Syndrome and Enzyme Kinetics</title><author>Rattazzi, Mario C. ; Corash, Laurence M. ; van Zanen, George E. ; Jaffé, Ernst R. ; Piomelli, Sergio</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3145-1091c7dfdb1f7f17e71ab910eb1a82d084dc0d29d963415f4494f599f7e256a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1971</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Anemia, Hemolytic, Congenital - enzymology</topic><topic>Anemia, Hemolytic, Congenital - etiology</topic><topic>Cell Survival</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromium Isotopes</topic><topic>Erythrocytes - enzymology</topic><topic>Exchange Transfusion, Whole Blood</topic><topic>Female</topic><topic>Glucosephosphate Dehydrogenase - blood</topic><topic>Glucosephosphate Dehydrogenase - classification</topic><topic>Glucosephosphate Dehydrogenase - isolation & purification</topic><topic>Glucosephosphate Dehydrogenase Deficiency - complications</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Jaundice, Neonatal - therapy</topic><topic>Male</topic><topic>Mutation</topic><topic>NADP - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rattazzi, Mario C.</creatorcontrib><creatorcontrib>Corash, Laurence M.</creatorcontrib><creatorcontrib>van Zanen, George E.</creatorcontrib><creatorcontrib>Jaffé, Ernst R.</creatorcontrib><creatorcontrib>Piomelli, Sergio</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><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</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rattazzi, Mario C.</au><au>Corash, Laurence M.</au><au>van Zanen, George E.</au><au>Jaffé, Ernst R.</au><au>Piomelli, Sergio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>G6PD Deficiency and Chronic Hemolysis: Four New Mutants—Relationships Between Clinical Syndrome and Enzyme Kinetics</atitle><jtitle>Blood</jtitle><addtitle>Blood</addtitle><date>1971-08</date><risdate>1971</risdate><volume>38</volume><issue>2</issue><spage>205</spage><epage>218</epage><pages>205-218</pages><issn>0006-4971</issn><eissn>1528-0020</eissn><abstract>G6PD deficiency of the common type (GdA- and GdMediterranean) results in extremely mild chronic hemolysis. In contrast, 65 males (from 47 unrelated families) have been reported with a different syndrome of severe chronic hemolysis associated with a superficially similar deficiency in the activity of G6PD. Five new such patients (from four unrelated families) are reported. Biochemical characterization of the erythrocyte G6PD from these patients indicates that these four mutant enzymes are different from each other and from previously reported variants. These new mutants have tentatively been named G6PD New York, G6PD Englewood, G6PD Rotterdam and G6PD Den Haag. The congenital nonspherocytic hemolytic anemias associated with G6PD deficiency appear to be an extremely heterogeneous group from the point of view of biochemical kinetics. The relationships between the clinical syndrome and the various biochemical enzyme characteristics are discussed in the light of the information presently available.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>4397482</pmid><doi>10.1182/blood.V38.2.205.205</doi><tpages>14</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Blood, 1971-08, Vol.38 (2), p.205-218 |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Adolescent Adult Anemia, Hemolytic, Congenital - enzymology Anemia, Hemolytic, Congenital - etiology Cell Survival Child Child, Preschool Chromium Isotopes Erythrocytes - enzymology Exchange Transfusion, Whole Blood Female Glucosephosphate Dehydrogenase - blood Glucosephosphate Dehydrogenase - classification Glucosephosphate Dehydrogenase - isolation & purification Glucosephosphate Dehydrogenase Deficiency - complications Humans Infant, Newborn Jaundice, Neonatal - therapy Male Mutation NADP - metabolism |
| title | G6PD Deficiency and Chronic Hemolysis: Four New Mutants—Relationships Between Clinical Syndrome and Enzyme Kinetics |
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