Atypical HbH disease in a Surinamese patient resulting from a combination of the −SEA and −α3.7 deletions with HbC heterozygosity
The first case of haemoglobin H (HbH) disease in combination with haemoglobin C (HbC) is reported in a man of Surinamese origin. Only haemoglobin A (HbA) and HbC were detected by electrophoresis. The amount of HbC was much less than expected in HbC heterozygotes. The synthesis ratio (βA +βC/α) indic...
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| Veröffentlicht in: | British journal of haematology 1997-03, Vol.96 (4), p.801-805 |
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| container_title | British journal of haematology |
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| creator | GIORDANO, P. C. HARTEVELD, C. L. MICHIELS, J. J. TERPSTRA, W. BATELAAN, D. VAN DELFT, P. PLUG, R. J. VAN DER WIELEN, M. J. R. LOSEKOOT, M. BERNINI, L. F. |
| description | The first case of haemoglobin H (HbH) disease in combination with haemoglobin C (HbC) is reported in a man of Surinamese origin. Only haemoglobin A (HbA) and HbC were detected by electrophoresis. The amount of HbC was much less than expected in HbC heterozygotes. The synthesis ratio (βA +βC/α) indicated an α‐thalassaemia defect with two non‐functional α genes, which did not correlate with the degree of haemolysis and anaemia displayed by the patient. The DNA analysis of the α‐genes clusters revealed a defect combination −SEA/−α3.7. The haematological data and the physiopathology of this atypical case are compared with the typical HbH disease found in a first cousin of the propositus. Data on the globin chains expression and on the formation of βA and βC homotetramers in HbH/HbC disease are presented. |
| doi_str_mv | 10.1046/j.1365-2141.1997.d01-2093.x |
| format | Article |
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C. ; HARTEVELD, C. L. ; MICHIELS, J. J. ; TERPSTRA, W. ; BATELAAN, D. ; VAN DELFT, P. ; PLUG, R. J. ; VAN DER WIELEN, M. J. R. ; LOSEKOOT, M. ; BERNINI, L. F.</creator><creatorcontrib>GIORDANO, P. C. ; HARTEVELD, C. L. ; MICHIELS, J. J. ; TERPSTRA, W. ; BATELAAN, D. ; VAN DELFT, P. ; PLUG, R. J. ; VAN DER WIELEN, M. J. R. ; LOSEKOOT, M. ; BERNINI, L. F.</creatorcontrib><description>The first case of haemoglobin H (HbH) disease in combination with haemoglobin C (HbC) is reported in a man of Surinamese origin. Only haemoglobin A (HbA) and HbC were detected by electrophoresis. The amount of HbC was much less than expected in HbC heterozygotes. The synthesis ratio (βA +βC/α) indicated an α‐thalassaemia defect with two non‐functional α genes, which did not correlate with the degree of haemolysis and anaemia displayed by the patient. The DNA analysis of the α‐genes clusters revealed a defect combination −SEA/−α3.7. The haematological data and the physiopathology of this atypical case are compared with the typical HbH disease found in a first cousin of the propositus. Data on the globin chains expression and on the formation of βA and βC homotetramers in HbH/HbC disease are presented.</description><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1046/j.1365-2141.1997.d01-2093.x</identifier><identifier>CODEN: BJHEAL</identifier><language>eng</language><publisher>Oxford, U.K. and Cambridge, USA: Blackwell Science Ltd</publisher><subject>Anemias. Hemoglobinopathies ; Biological and medical sciences ; Diseases of red blood cells ; haemoglobin ; haemoglobinopathy ; HbC ; HbH disease ; Hematologic and hematopoietic diseases ; Medical sciences ; thalassaemia</subject><ispartof>British journal of haematology, 1997-03, Vol.96 (4), p.801-805</ispartof><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></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.d01-2093.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1046%2Fj.1365-2141.1997.d01-2093.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,1427,27901,27902,45550,45551,46384,46808</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2592841$$DView record in Pascal Francis$$Hfree_for_read</backlink></links><search><creatorcontrib>GIORDANO, P. 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The synthesis ratio (βA +βC/α) indicated an α‐thalassaemia defect with two non‐functional α genes, which did not correlate with the degree of haemolysis and anaemia displayed by the patient. The DNA analysis of the α‐genes clusters revealed a defect combination −SEA/−α3.7. The haematological data and the physiopathology of this atypical case are compared with the typical HbH disease found in a first cousin of the propositus. Data on the globin chains expression and on the formation of βA and βC homotetramers in HbH/HbC disease are presented.</description><subject>Anemias. Hemoglobinopathies</subject><subject>Biological and medical sciences</subject><subject>Diseases of red blood cells</subject><subject>haemoglobin</subject><subject>haemoglobinopathy</subject><subject>HbC</subject><subject>HbH disease</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Medical sciences</subject><subject>thalassaemia</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><recordid>eNo9kMFOwzAMQCMEEmPwD5Hg2pI0adKc0JiAgSZx2O5Runpbpq6tmkxb-QDEmT_hR_gIvoRUoJ1sy8-2_BC6piSmhIvbTUyZSKOEchpTpWRcEBolRLH4cIIGx94pGhBCZBRmsnN04dyGEMpISgfofeS7xi5MiSf5BBfWgXGAbYUNnu1aW5kthLox3kLlcQtuV3pbrfCyrbeBWdTbPEDe1hWul9ivAf98fM4eRthURZ9-f7FY4gJK6BmH99avw6kxXoOHtn7rVrWzvrtEZ0tTOrj6j0M0f3yYjyfR9PXpeTyaRg1lGY-4NKAywXIOLJEppYuUEaaEyI0Ukud5IQsFJk-JYZJLkUkCUphUQZIKwdkQ3fytbYwLPy9bUy2s001rt6btdJKqJOM0YHd_2N6W0B3blOjeut7o3qzuzereug7WdW9dH_T9y0SFQ78BZHsf</recordid><startdate>199703</startdate><enddate>199703</enddate><creator>GIORDANO, P. C.</creator><creator>HARTEVELD, C. L.</creator><creator>MICHIELS, J. J.</creator><creator>TERPSTRA, W.</creator><creator>BATELAAN, D.</creator><creator>VAN DELFT, P.</creator><creator>PLUG, R. J.</creator><creator>VAN DER WIELEN, M. J. R.</creator><creator>LOSEKOOT, M.</creator><creator>BERNINI, L. F.</creator><general>Blackwell Science Ltd</general><general>Blackwell</general><scope>IQODW</scope></search><sort><creationdate>199703</creationdate><title>Atypical HbH disease in a Surinamese patient resulting from a combination of the −SEA and −α3.7 deletions with HbC heterozygosity</title><author>GIORDANO, P. C. ; HARTEVELD, C. L. ; MICHIELS, J. J. ; TERPSTRA, W. ; BATELAAN, D. ; VAN DELFT, P. ; PLUG, R. J. ; VAN DER WIELEN, M. J. R. ; LOSEKOOT, M. ; BERNINI, L. F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p1384-47ae9863b4e327511c5303966ba7674bbd7d9eab50a37476870e76a59e256643</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Anemias. Hemoglobinopathies</topic><topic>Biological and medical sciences</topic><topic>Diseases of red blood cells</topic><topic>haemoglobin</topic><topic>haemoglobinopathy</topic><topic>HbC</topic><topic>HbH disease</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Medical sciences</topic><topic>thalassaemia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>GIORDANO, P. C.</creatorcontrib><creatorcontrib>HARTEVELD, C. L.</creatorcontrib><creatorcontrib>MICHIELS, J. J.</creatorcontrib><creatorcontrib>TERPSTRA, W.</creatorcontrib><creatorcontrib>BATELAAN, D.</creatorcontrib><creatorcontrib>VAN DELFT, P.</creatorcontrib><creatorcontrib>PLUG, R. J.</creatorcontrib><creatorcontrib>VAN DER WIELEN, M. J. R.</creatorcontrib><creatorcontrib>LOSEKOOT, M.</creatorcontrib><creatorcontrib>BERNINI, L. F.</creatorcontrib><collection>Pascal-Francis</collection><jtitle>British journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>GIORDANO, P. C.</au><au>HARTEVELD, C. L.</au><au>MICHIELS, J. J.</au><au>TERPSTRA, W.</au><au>BATELAAN, D.</au><au>VAN DELFT, P.</au><au>PLUG, R. J.</au><au>VAN DER WIELEN, M. J. R.</au><au>LOSEKOOT, M.</au><au>BERNINI, L. F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Atypical HbH disease in a Surinamese patient resulting from a combination of the −SEA and −α3.7 deletions with HbC heterozygosity</atitle><jtitle>British journal of haematology</jtitle><date>1997-03</date><risdate>1997</risdate><volume>96</volume><issue>4</issue><spage>801</spage><epage>805</epage><pages>801-805</pages><issn>0007-1048</issn><eissn>1365-2141</eissn><coden>BJHEAL</coden><abstract>The first case of haemoglobin H (HbH) disease in combination with haemoglobin C (HbC) is reported in a man of Surinamese origin. Only haemoglobin A (HbA) and HbC were detected by electrophoresis. The amount of HbC was much less than expected in HbC heterozygotes. The synthesis ratio (βA +βC/α) indicated an α‐thalassaemia defect with two non‐functional α genes, which did not correlate with the degree of haemolysis and anaemia displayed by the patient. The DNA analysis of the α‐genes clusters revealed a defect combination −SEA/−α3.7. The haematological data and the physiopathology of this atypical case are compared with the typical HbH disease found in a first cousin of the propositus. Data on the globin chains expression and on the formation of βA and βC homotetramers in HbH/HbC disease are presented.</abstract><cop>Oxford, U.K. and Cambridge, USA</cop><pub>Blackwell Science Ltd</pub><doi>10.1046/j.1365-2141.1997.d01-2093.x</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| source | Wiley Free Content; Wiley Online Library Journals Frontfile Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Anemias. Hemoglobinopathies Biological and medical sciences Diseases of red blood cells haemoglobin haemoglobinopathy HbC HbH disease Hematologic and hematopoietic diseases Medical sciences thalassaemia |
| title | Atypical HbH disease in a Surinamese patient resulting from a combination of the −SEA and −α3.7 deletions with HbC heterozygosity |
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