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Beta‐thalassaemia in the immigrant and non‐immigrant German populations
In Germany homozygous β‐thalassaemia mainly occurs in the immigrant population from endemic regions. In non‐immigrants β‐thalassaemia is rare. Heterozygous β‐thalassaemia minor, however, is more common and must be considered in the differential diagnosis of hypochromic anaemia. The clinical and mole...
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| Published in: | British journal of haematology 1997-05, Vol.97 (2), p.266-272 |
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| container_title | British journal of haematology |
| container_volume | 97 |
| creator | Vetter, B. Schwarz, C. Kohne, E. Kulozik, A. E. |
| description | In Germany homozygous β‐thalassaemia mainly occurs in the immigrant population from endemic regions. In non‐immigrants β‐thalassaemia is rare. Heterozygous β‐thalassaemia minor, however, is more common and must be considered in the differential diagnosis of hypochromic anaemia. The clinical and molecular data of 221 homozygous patients and 256 non‐immigrant German heterozygous individuals are presented. Clinically, 87% (n =192) of the homozygotes are classified as thalassaemia major (TM) and the other 13% as thalassaemia intermedia (TI). There is a wide spectrum of 39 thalassaemia mutations which occur with relatively low frequencies in individual cases. In 17/29 TI patients ‘mild’ mutations have been found and in 16/29 there are mutations that are associated with increased γ‐globin gene activity. α‐Thalassaemia is rare and found only in 3/29.
In the 256 Germans with heterozygous β‐thalassaemia there are 27 different thalassaemia mutations. The three most common are Mediterranean, together accounting for 61%. Also relatively common (5%) is an otherwise rare frameshift mutation of codon 83 (FS83 ΔG). The other mutations occur in |
| doi_str_mv | 10.1046/j.1365-2141.1997.342674.x |
| format | article |
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In the 256 Germans with heterozygous β‐thalassaemia there are 27 different thalassaemia mutations. The three most common are Mediterranean, together accounting for 61%. Also relatively common (5%) is an otherwise rare frameshift mutation of codon 83 (FS83 ΔG). The other mutations occur in < 10 individuals. Two mutations described here are novel. One of them affects position −2 of the intron 1 splice acceptor site (IVSI‐129 A‐G) and the other is a deletion of a single G in codon 15/16 (FS 15/16 ΔG). These data suggest that β‐thalassaemia in Germans was introduced from the Mediterranean in about two‐thirds of cases and that the remaining third has probably originated locally.</description><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1046/j.1365-2141.1997.342674.x</identifier><identifier>PMID: 9163586</identifier><identifier>CODEN: BJHEAL</identifier><language>eng</language><publisher>Oxford, U.K. and Cambridge, USA: Blackwell Science Ltd</publisher><subject>Anemias. Hemoglobinopathies ; Asia, Southeastern - ethnology ; beta-Thalassemia - ethnology ; beta-Thalassemia - genetics ; Biological and medical sciences ; Diseases of red blood cells ; Emigration and Immigration ; Gene Deletion ; genotype–phenotype correlation ; Germany ; Germany - epidemiology ; Hematologic and hematopoietic diseases ; Heterozygote ; Homozygote ; Humans ; Italy - ethnology ; Medical sciences ; Middle East - ethnology ; Point Mutation ; Turkey - ethnology ; β‐globin mutations ; β‐thalassaemia</subject><ispartof>British journal of haematology, 1997-05, Vol.97 (2), p.266-272</ispartof><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4454-f1d9b4dc6a917e14609e511224c06037f2054a9dd5edce0c4ea14665f528a6f73</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1046%2Fj.1365-2141.1997.342674.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1046%2Fj.1365-2141.1997.342674.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,786,790,27957,27958,50923,51032</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2659302$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9163586$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Vetter, B.</creatorcontrib><creatorcontrib>Schwarz, C.</creatorcontrib><creatorcontrib>Kohne, E.</creatorcontrib><creatorcontrib>Kulozik, A. E.</creatorcontrib><title>Beta‐thalassaemia in the immigrant and non‐immigrant German populations</title><title>British journal of haematology</title><addtitle>Br J Haematol</addtitle><description>In Germany homozygous β‐thalassaemia mainly occurs in the immigrant population from endemic regions. In non‐immigrants β‐thalassaemia is rare. Heterozygous β‐thalassaemia minor, however, is more common and must be considered in the differential diagnosis of hypochromic anaemia. The clinical and molecular data of 221 homozygous patients and 256 non‐immigrant German heterozygous individuals are presented. Clinically, 87% (n =192) of the homozygotes are classified as thalassaemia major (TM) and the other 13% as thalassaemia intermedia (TI). There is a wide spectrum of 39 thalassaemia mutations which occur with relatively low frequencies in individual cases. In 17/29 TI patients ‘mild’ mutations have been found and in 16/29 there are mutations that are associated with increased γ‐globin gene activity. α‐Thalassaemia is rare and found only in 3/29.
In the 256 Germans with heterozygous β‐thalassaemia there are 27 different thalassaemia mutations. The three most common are Mediterranean, together accounting for 61%. Also relatively common (5%) is an otherwise rare frameshift mutation of codon 83 (FS83 ΔG). The other mutations occur in < 10 individuals. Two mutations described here are novel. One of them affects position −2 of the intron 1 splice acceptor site (IVSI‐129 A‐G) and the other is a deletion of a single G in codon 15/16 (FS 15/16 ΔG). These data suggest that β‐thalassaemia in Germans was introduced from the Mediterranean in about two‐thirds of cases and that the remaining third has probably originated locally.</description><subject>Anemias. Hemoglobinopathies</subject><subject>Asia, Southeastern - ethnology</subject><subject>beta-Thalassemia - ethnology</subject><subject>beta-Thalassemia - genetics</subject><subject>Biological and medical sciences</subject><subject>Diseases of red blood cells</subject><subject>Emigration and Immigration</subject><subject>Gene Deletion</subject><subject>genotype–phenotype correlation</subject><subject>Germany</subject><subject>Germany - epidemiology</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Heterozygote</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Italy - ethnology</subject><subject>Medical sciences</subject><subject>Middle East - ethnology</subject><subject>Point Mutation</subject><subject>Turkey - ethnology</subject><subject>β‐globin mutations</subject><subject>β‐thalassaemia</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><recordid>eNqNkMtKw0AUhgdRar08ghBB3CWeyVzSATe2aKsW3Oh6OJ1M7JTczKTY7nwEn9EnMaWlbl0dOP_3nwMfIZcUIgpc3iwiyqQIY8ppRJVKIsZjmfBodUD6--SQ9AEgCbvG4JiceL8AoAwE7ZGeopKJgeyT56Ft8efru51jjt6jLRwGrgzauQ1cUbj3Bss2wDINyqrsuL_d2DYFlkFd1cscW1eV_owcZZh7e76bp-Tt4f51NAmnL-PH0d00NJwLHmY0VTOeGomKJpZyCcoKSuOYG5DAkiwGwVGlqbCpsWC4xQ6SIhPxAGWWsFNyvb1bN9XH0vpWF84bm-dY2mrpdaIAZKIGHai2oGkq7xub6bpxBTZrTUFvROqF3ujSG116I1JvRepV173YPVnOCpvumztzXX61y9EbzLPOiXF-j8VSKAZxh91usU-X2_X__-vh04Rx9gsXAI_q</recordid><startdate>199705</startdate><enddate>199705</enddate><creator>Vetter, B.</creator><creator>Schwarz, C.</creator><creator>Kohne, E.</creator><creator>Kulozik, A. E.</creator><general>Blackwell Science Ltd</general><general>Blackwell</general><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>199705</creationdate><title>Beta‐thalassaemia in the immigrant and non‐immigrant German populations</title><author>Vetter, B. ; Schwarz, C. ; Kohne, E. ; Kulozik, A. E.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4454-f1d9b4dc6a917e14609e511224c06037f2054a9dd5edce0c4ea14665f528a6f73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Anemias. Hemoglobinopathies</topic><topic>Asia, Southeastern - ethnology</topic><topic>beta-Thalassemia - ethnology</topic><topic>beta-Thalassemia - genetics</topic><topic>Biological and medical sciences</topic><topic>Diseases of red blood cells</topic><topic>Emigration and Immigration</topic><topic>Gene Deletion</topic><topic>genotype–phenotype correlation</topic><topic>Germany</topic><topic>Germany - epidemiology</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Heterozygote</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Italy - ethnology</topic><topic>Medical sciences</topic><topic>Middle East - ethnology</topic><topic>Point Mutation</topic><topic>Turkey - ethnology</topic><topic>β‐globin mutations</topic><topic>β‐thalassaemia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vetter, B.</creatorcontrib><creatorcontrib>Schwarz, C.</creatorcontrib><creatorcontrib>Kohne, E.</creatorcontrib><creatorcontrib>Kulozik, A. E.</creatorcontrib><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>British journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Vetter, B.</au><au>Schwarz, C.</au><au>Kohne, E.</au><au>Kulozik, A. E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Beta‐thalassaemia in the immigrant and non‐immigrant German populations</atitle><jtitle>British journal of haematology</jtitle><addtitle>Br J Haematol</addtitle><date>1997-05</date><risdate>1997</risdate><volume>97</volume><issue>2</issue><spage>266</spage><epage>272</epage><pages>266-272</pages><issn>0007-1048</issn><eissn>1365-2141</eissn><coden>BJHEAL</coden><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>In Germany homozygous β‐thalassaemia mainly occurs in the immigrant population from endemic regions. In non‐immigrants β‐thalassaemia is rare. Heterozygous β‐thalassaemia minor, however, is more common and must be considered in the differential diagnosis of hypochromic anaemia. The clinical and molecular data of 221 homozygous patients and 256 non‐immigrant German heterozygous individuals are presented. Clinically, 87% (n =192) of the homozygotes are classified as thalassaemia major (TM) and the other 13% as thalassaemia intermedia (TI). There is a wide spectrum of 39 thalassaemia mutations which occur with relatively low frequencies in individual cases. In 17/29 TI patients ‘mild’ mutations have been found and in 16/29 there are mutations that are associated with increased γ‐globin gene activity. α‐Thalassaemia is rare and found only in 3/29.
In the 256 Germans with heterozygous β‐thalassaemia there are 27 different thalassaemia mutations. The three most common are Mediterranean, together accounting for 61%. Also relatively common (5%) is an otherwise rare frameshift mutation of codon 83 (FS83 ΔG). The other mutations occur in < 10 individuals. Two mutations described here are novel. One of them affects position −2 of the intron 1 splice acceptor site (IVSI‐129 A‐G) and the other is a deletion of a single G in codon 15/16 (FS 15/16 ΔG). These data suggest that β‐thalassaemia in Germans was introduced from the Mediterranean in about two‐thirds of cases and that the remaining third has probably originated locally.</abstract><cop>Oxford, U.K. and Cambridge, USA</cop><pub>Blackwell Science Ltd</pub><pmid>9163586</pmid><doi>10.1046/j.1365-2141.1997.342674.x</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | British journal of haematology, 1997-05, Vol.97 (2), p.266-272 |
| issn | 0007-1048 1365-2141 |
| language | eng |
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| subjects | Anemias. Hemoglobinopathies Asia, Southeastern - ethnology beta-Thalassemia - ethnology beta-Thalassemia - genetics Biological and medical sciences Diseases of red blood cells Emigration and Immigration Gene Deletion genotype–phenotype correlation Germany Germany - epidemiology Hematologic and hematopoietic diseases Heterozygote Homozygote Humans Italy - ethnology Medical sciences Middle East - ethnology Point Mutation Turkey - ethnology β‐globin mutations β‐thalassaemia |
| title | Beta‐thalassaemia in the immigrant and non‐immigrant German populations |
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