Spectrin Tunis (αI/78): A New αI Variant That Causes Asymptomatic Hereditary Elliptocytosis in the Heterozygous State
Spectrin Tunis (α1/78) was found in the heterozygous state in a young white North-African man and his mother. Both of them presented with mild elliptocytosis. Using one-dimensional electrophoresis, a sharp 78 kd fragment was present with a reciprocal decrease of the al 80 kd domain. Kinetic analysis...
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| Veröffentlicht in: | Blood 1988-02, Vol.71 (2), p.508-511 |
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| container_title | Blood |
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| creator | Morle, L. Alloisio, N. Ducluzeau, M.T. Pothier, B. Blibech, R. Kastally, R. Delaunay, J. |
| description | Spectrin Tunis (α1/78) was found in the heterozygous state in a young white North-African man and his mother. Both of them presented with mild elliptocytosis. Using one-dimensional electrophoresis, a sharp 78 kd fragment was present with a reciprocal decrease of the al 80 kd domain. Kinetic analysis unambiguously confirmed that the 78 kd fragment developed at the expense of the al 80 domain. The al 74 kd peptide was not flanked with a peptide lacking a 2 kd fragment. From this fact, it could be inferred that the site for additional proteolysis is located upstream from arginyl residue 39 and, more precisely, should lie 10 to 20 amino-acid residues ( — 2 kd) from the a-chain N-terminus. The percentage of spectrin dimers in 4°C extracts was high (over 40%), contrasting with the absence of clinical symptoms related to elliptocytosis. This is the first mutation responsible for elliptocytosis found in Tunisia.1988 by Grune & Stratton, Inc. 0006-4971/88/7102-0152$3.00/0 |
| doi_str_mv | 10.1182/blood.V71.2.508.508 |
| format | Article |
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Both of them presented with mild elliptocytosis. Using one-dimensional electrophoresis, a sharp 78 kd fragment was present with a reciprocal decrease of the al 80 kd domain. Kinetic analysis unambiguously confirmed that the 78 kd fragment developed at the expense of the al 80 domain. The al 74 kd peptide was not flanked with a peptide lacking a 2 kd fragment. From this fact, it could be inferred that the site for additional proteolysis is located upstream from arginyl residue 39 and, more precisely, should lie 10 to 20 amino-acid residues ( — 2 kd) from the a-chain N-terminus. The percentage of spectrin dimers in 4°C extracts was high (over 40%), contrasting with the absence of clinical symptoms related to elliptocytosis. This is the first mutation responsible for elliptocytosis found in Tunisia.1988 by Grune & Stratton, Inc. 0006-4971/88/7102-0152$3.00/0</description><identifier>ISSN: 0006-4971</identifier><identifier>EISSN: 1528-0020</identifier><identifier>DOI: 10.1182/blood.V71.2.508.508</identifier><identifier>PMID: 3337911</identifier><language>eng</language><publisher>Washington, DC: Elsevier Inc</publisher><subject>Adult ; Anemias. Hemoglobinopathies ; Biological and medical sciences ; Diseases of red blood cells ; Elliptocytosis, Hereditary - blood ; Elliptocytosis, Hereditary - genetics ; Hematologic and hematopoietic diseases ; Heterozygote ; Humans ; Male ; Medical sciences ; Molecular Weight ; Peptide Fragments - analysis ; Spectrin - genetics ; Tunisia</subject><ispartof>Blood, 1988-02, Vol.71 (2), p.508-511</ispartof><rights>1988 American Society of Hematology</rights><rights>1988 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c428t-809ce6836cd3289b81f1285bea18a1f48beeffa2b4aee5ba49b60b004bc5f7543</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=7578051$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3337911$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Morle, L.</creatorcontrib><creatorcontrib>Alloisio, N.</creatorcontrib><creatorcontrib>Ducluzeau, M.T.</creatorcontrib><creatorcontrib>Pothier, B.</creatorcontrib><creatorcontrib>Blibech, R.</creatorcontrib><creatorcontrib>Kastally, R.</creatorcontrib><creatorcontrib>Delaunay, J.</creatorcontrib><title>Spectrin Tunis (αI/78): A New αI Variant That Causes Asymptomatic Hereditary Elliptocytosis in the Heterozygous State</title><title>Blood</title><addtitle>Blood</addtitle><description>Spectrin Tunis (α1/78) was found in the heterozygous state in a young white North-African man and his mother. Both of them presented with mild elliptocytosis. Using one-dimensional electrophoresis, a sharp 78 kd fragment was present with a reciprocal decrease of the al 80 kd domain. Kinetic analysis unambiguously confirmed that the 78 kd fragment developed at the expense of the al 80 domain. The al 74 kd peptide was not flanked with a peptide lacking a 2 kd fragment. From this fact, it could be inferred that the site for additional proteolysis is located upstream from arginyl residue 39 and, more precisely, should lie 10 to 20 amino-acid residues ( — 2 kd) from the a-chain N-terminus. The percentage of spectrin dimers in 4°C extracts was high (over 40%), contrasting with the absence of clinical symptoms related to elliptocytosis. This is the first mutation responsible for elliptocytosis found in Tunisia.1988 by Grune & Stratton, Inc. 0006-4971/88/7102-0152$3.00/0</description><subject>Adult</subject><subject>Anemias. Hemoglobinopathies</subject><subject>Biological and medical sciences</subject><subject>Diseases of red blood cells</subject><subject>Elliptocytosis, Hereditary - blood</subject><subject>Elliptocytosis, Hereditary - genetics</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Molecular Weight</subject><subject>Peptide Fragments - analysis</subject><subject>Spectrin - genetics</subject><subject>Tunisia</subject><issn>0006-4971</issn><issn>1528-0020</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1988</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc9OGzEQxq0KBIHyBFUlHxBqDxv8Z531VuIQRVCQUHsgcLVs72wx2l2ntrcovFVfpM-EQyKOPYxG9nzzeeZnhD5RMqVUsnPTed9MHyo6ZVNB5CY-oAkVTBaEMLKHJoSQWVHWFT1ERzE-EUJLzsQBOuCcVzWlE_R8twKbghvwchxcxF_-_b05r-TXb3iOf8Azzkf8oIPTQ8LLR53wQo8RIp7Hdb9KvtfJWXwNARqXdFjjy65z-d6uk4_ZLvumR8iCBMG_rH_5MeK7pBN8RPut7iKc7PIxur-6XC6ui9uf328W89vClkymQpLawkzymW04k7WRtKVMCgOaSk3bUhqAttXMlBpAGF3WZkYMIaWxoq1EyY_R2dZ3FfzvEWJSvYsWuk4PkIdRlSSSVpRnId8KbfAxBmjVKrg-r6QoURvc6g23yrgVUxn1JnLX5539aHpo3nt2fHP9dFfX0equDXqwLr7LKpHfFxvZxVYGGcUfB0FF62CwmWrI36Ma7_47xiv5baC0</recordid><startdate>19880201</startdate><enddate>19880201</enddate><creator>Morle, L.</creator><creator>Alloisio, N.</creator><creator>Ducluzeau, M.T.</creator><creator>Pothier, B.</creator><creator>Blibech, R.</creator><creator>Kastally, R.</creator><creator>Delaunay, J.</creator><general>Elsevier Inc</general><general>The Americain Society of Hematology</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</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>19880201</creationdate><title>Spectrin Tunis (αI/78): A New αI Variant That Causes Asymptomatic Hereditary Elliptocytosis in the Heterozygous State</title><author>Morle, L. ; Alloisio, N. ; Ducluzeau, M.T. ; Pothier, B. ; Blibech, R. ; Kastally, R. ; Delaunay, J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c428t-809ce6836cd3289b81f1285bea18a1f48beeffa2b4aee5ba49b60b004bc5f7543</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1988</creationdate><topic>Adult</topic><topic>Anemias. Hemoglobinopathies</topic><topic>Biological and medical sciences</topic><topic>Diseases of red blood cells</topic><topic>Elliptocytosis, Hereditary - blood</topic><topic>Elliptocytosis, Hereditary - genetics</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Molecular Weight</topic><topic>Peptide Fragments - analysis</topic><topic>Spectrin - genetics</topic><topic>Tunisia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Morle, L.</creatorcontrib><creatorcontrib>Alloisio, N.</creatorcontrib><creatorcontrib>Ducluzeau, M.T.</creatorcontrib><creatorcontrib>Pothier, B.</creatorcontrib><creatorcontrib>Blibech, R.</creatorcontrib><creatorcontrib>Kastally, R.</creatorcontrib><creatorcontrib>Delaunay, J.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Pascal-Francis</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>Morle, L.</au><au>Alloisio, N.</au><au>Ducluzeau, M.T.</au><au>Pothier, B.</au><au>Blibech, R.</au><au>Kastally, R.</au><au>Delaunay, J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Spectrin Tunis (αI/78): A New αI Variant That Causes Asymptomatic Hereditary Elliptocytosis in the Heterozygous State</atitle><jtitle>Blood</jtitle><addtitle>Blood</addtitle><date>1988-02-01</date><risdate>1988</risdate><volume>71</volume><issue>2</issue><spage>508</spage><epage>511</epage><pages>508-511</pages><issn>0006-4971</issn><eissn>1528-0020</eissn><abstract>Spectrin Tunis (α1/78) was found in the heterozygous state in a young white North-African man and his mother. Both of them presented with mild elliptocytosis. Using one-dimensional electrophoresis, a sharp 78 kd fragment was present with a reciprocal decrease of the al 80 kd domain. Kinetic analysis unambiguously confirmed that the 78 kd fragment developed at the expense of the al 80 domain. The al 74 kd peptide was not flanked with a peptide lacking a 2 kd fragment. From this fact, it could be inferred that the site for additional proteolysis is located upstream from arginyl residue 39 and, more precisely, should lie 10 to 20 amino-acid residues ( — 2 kd) from the a-chain N-terminus. The percentage of spectrin dimers in 4°C extracts was high (over 40%), contrasting with the absence of clinical symptoms related to elliptocytosis. This is the first mutation responsible for elliptocytosis found in Tunisia.1988 by Grune & Stratton, Inc. 0006-4971/88/7102-0152$3.00/0</abstract><cop>Washington, DC</cop><pub>Elsevier Inc</pub><pmid>3337911</pmid><doi>10.1182/blood.V71.2.508.508</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Blood, 1988-02, Vol.71 (2), p.508-511 |
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| language | eng |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Adult Anemias. Hemoglobinopathies Biological and medical sciences Diseases of red blood cells Elliptocytosis, Hereditary - blood Elliptocytosis, Hereditary - genetics Hematologic and hematopoietic diseases Heterozygote Humans Male Medical sciences Molecular Weight Peptide Fragments - analysis Spectrin - genetics Tunisia |
| title | Spectrin Tunis (αI/78): A New αI Variant That Causes Asymptomatic Hereditary Elliptocytosis in the Heterozygous State |
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