An unusual hemoglobin anomaly and its relation to alpha-thalassemia and hemoglobin-H disease
A Chinese family with hemoglobin H in the propositus has been reinvestigated. Although the original propositus is now deceased, a sister has the same hematological manifestations. Her hemoglobin, like that of the deceased sister, contains hemoglobins A, H, and Bart's. In addition, however, two...
Gespeichert in:
| Veröffentlicht in: | The Journal of clinical investigation 1971-08, Vol.50 (8), p.1628-1636 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1636 |
|---|---|
| container_issue | 8 |
| container_start_page | 1628 |
| container_title | The Journal of clinical investigation |
| container_volume | 50 |
| creator | Efremov, G D Wrightstone, R N Huisman, T H Schroeder, W A Hyman, C Ortega, J Williams, K |
| description | A Chinese family with hemoglobin H in the propositus has been reinvestigated. Although the original propositus is now deceased, a sister has the same hematological manifestations. Her hemoglobin, like that of the deceased sister, contains hemoglobins A, H, and Bart's. In addition, however, two minor components have been detected. These minor components appear to have abnormal alpha-chains and are also present in the maternal grandmother, the mother, a maternal aunt, and three other siblings but only in about one-tenth the amount. One of the minor components may be the same as Hb-Thai (25). The father has the characteristics of classical alpha-thalassemia. These results are discussed in relation to current concepts of alpha-thalassemia as they relate to "silent" and "classical" alpha-thalassemia and to possible multiple alpha-chain loci. |
| doi_str_mv | 10.1172/JCI106651 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_442062</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>81120443</sourcerecordid><originalsourceid>FETCH-LOGICAL-c369t-b66f05021de05919b3511e2fd9afe088c0484940974522c4c9ce03d016b91c163</originalsourceid><addsrcrecordid>eNpVkDFPwzAUhD2ASikM_AAkT0gMgWfHduOBoaqAFlVigQ3JchynMXLiEidI_fcEWhWYbnjf3TsdQhcEbgiZ0tun-ZKAEJwcoTEAJYmcptkJOo3xHYAwxtkIjTjIKZ_CGL3NGtw3fey1x5Wtw9qH3DVYN6HWfjtogV0XcWu97lxocBew9ptKJ12lvY7R1k7_UL_mZIELF62O9gwdl9pHe77XCXp9uH-ZL5LV8-NyPlslJhWyS3IhSuBD1cICl0TmKSfE0rKQurSQZQZYxiQbKjNOqWFGGgtpAUTkkhgi0gm62-Vu-ry2hbFN12qvNq2rdbtVQTv1_9K4Sq3Dp2KMgqCD_2rvb8NHb2OnaheN9V43NvRRZYRQYCwdwOsdaNoQY2vLww8C6nt9dVh_YC__ljqQ--nTL-OWglM</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>81120443</pqid></control><display><type>article</type><title>An unusual hemoglobin anomaly and its relation to alpha-thalassemia and hemoglobin-H disease</title><source>MEDLINE</source><source>PubMed Central (PMC)</source><source>Alma/SFX Local Collection</source><source>EZB Electronic Journals Library</source><creator>Efremov, G D ; Wrightstone, R N ; Huisman, T H ; Schroeder, W A ; Hyman, C ; Ortega, J ; Williams, K</creator><creatorcontrib>Efremov, G D ; Wrightstone, R N ; Huisman, T H ; Schroeder, W A ; Hyman, C ; Ortega, J ; Williams, K</creatorcontrib><description>A Chinese family with hemoglobin H in the propositus has been reinvestigated. Although the original propositus is now deceased, a sister has the same hematological manifestations. Her hemoglobin, like that of the deceased sister, contains hemoglobins A, H, and Bart's. In addition, however, two minor components have been detected. These minor components appear to have abnormal alpha-chains and are also present in the maternal grandmother, the mother, a maternal aunt, and three other siblings but only in about one-tenth the amount. One of the minor components may be the same as Hb-Thai (25). The father has the characteristics of classical alpha-thalassemia. These results are discussed in relation to current concepts of alpha-thalassemia as they relate to "silent" and "classical" alpha-thalassemia and to possible multiple alpha-chain loci.</description><identifier>ISSN: 0021-9738</identifier><identifier>DOI: 10.1172/JCI106651</identifier><identifier>PMID: 5097570</identifier><language>eng</language><publisher>United States</publisher><subject>Adolescent ; Amino Acids - analysis ; Asian Continental Ancestry Group ; Blood Protein Electrophoresis ; Child ; China ; Chromatography ; Female ; Follow-Up Studies ; Hemoglobinopathies - blood ; Hemoglobinopathies - etiology ; Hemoglobinopathies - genetics ; Hemoglobins, Abnormal - analysis ; Hot Temperature ; Humans ; Male ; Protein Denaturation ; Thalassemia - blood ; Thalassemia - etiology ; Thalassemia - genetics</subject><ispartof>The Journal of clinical investigation, 1971-08, Vol.50 (8), p.1628-1636</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c369t-b66f05021de05919b3511e2fd9afe088c0484940974522c4c9ce03d016b91c163</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC442062/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC442062/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/5097570$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Efremov, G D</creatorcontrib><creatorcontrib>Wrightstone, R N</creatorcontrib><creatorcontrib>Huisman, T H</creatorcontrib><creatorcontrib>Schroeder, W A</creatorcontrib><creatorcontrib>Hyman, C</creatorcontrib><creatorcontrib>Ortega, J</creatorcontrib><creatorcontrib>Williams, K</creatorcontrib><title>An unusual hemoglobin anomaly and its relation to alpha-thalassemia and hemoglobin-H disease</title><title>The Journal of clinical investigation</title><addtitle>J Clin Invest</addtitle><description>A Chinese family with hemoglobin H in the propositus has been reinvestigated. Although the original propositus is now deceased, a sister has the same hematological manifestations. Her hemoglobin, like that of the deceased sister, contains hemoglobins A, H, and Bart's. In addition, however, two minor components have been detected. These minor components appear to have abnormal alpha-chains and are also present in the maternal grandmother, the mother, a maternal aunt, and three other siblings but only in about one-tenth the amount. One of the minor components may be the same as Hb-Thai (25). The father has the characteristics of classical alpha-thalassemia. These results are discussed in relation to current concepts of alpha-thalassemia as they relate to "silent" and "classical" alpha-thalassemia and to possible multiple alpha-chain loci.</description><subject>Adolescent</subject><subject>Amino Acids - analysis</subject><subject>Asian Continental Ancestry Group</subject><subject>Blood Protein Electrophoresis</subject><subject>Child</subject><subject>China</subject><subject>Chromatography</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Hemoglobinopathies - blood</subject><subject>Hemoglobinopathies - etiology</subject><subject>Hemoglobinopathies - genetics</subject><subject>Hemoglobins, Abnormal - analysis</subject><subject>Hot Temperature</subject><subject>Humans</subject><subject>Male</subject><subject>Protein Denaturation</subject><subject>Thalassemia - blood</subject><subject>Thalassemia - etiology</subject><subject>Thalassemia - genetics</subject><issn>0021-9738</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1971</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkDFPwzAUhD2ASikM_AAkT0gMgWfHduOBoaqAFlVigQ3JchynMXLiEidI_fcEWhWYbnjf3TsdQhcEbgiZ0tun-ZKAEJwcoTEAJYmcptkJOo3xHYAwxtkIjTjIKZ_CGL3NGtw3fey1x5Wtw9qH3DVYN6HWfjtogV0XcWu97lxocBew9ptKJ12lvY7R1k7_UL_mZIELF62O9gwdl9pHe77XCXp9uH-ZL5LV8-NyPlslJhWyS3IhSuBD1cICl0TmKSfE0rKQurSQZQZYxiQbKjNOqWFGGgtpAUTkkhgi0gm62-Vu-ry2hbFN12qvNq2rdbtVQTv1_9K4Sq3Dp2KMgqCD_2rvb8NHb2OnaheN9V43NvRRZYRQYCwdwOsdaNoQY2vLww8C6nt9dVh_YC__ljqQ--nTL-OWglM</recordid><startdate>19710801</startdate><enddate>19710801</enddate><creator>Efremov, G D</creator><creator>Wrightstone, R N</creator><creator>Huisman, T H</creator><creator>Schroeder, W A</creator><creator>Hyman, C</creator><creator>Ortega, J</creator><creator>Williams, K</creator><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><scope>5PM</scope></search><sort><creationdate>19710801</creationdate><title>An unusual hemoglobin anomaly and its relation to alpha-thalassemia and hemoglobin-H disease</title><author>Efremov, G D ; Wrightstone, R N ; Huisman, T H ; Schroeder, W A ; Hyman, C ; Ortega, J ; Williams, K</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c369t-b66f05021de05919b3511e2fd9afe088c0484940974522c4c9ce03d016b91c163</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1971</creationdate><topic>Adolescent</topic><topic>Amino Acids - analysis</topic><topic>Asian Continental Ancestry Group</topic><topic>Blood Protein Electrophoresis</topic><topic>Child</topic><topic>China</topic><topic>Chromatography</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Hemoglobinopathies - blood</topic><topic>Hemoglobinopathies - etiology</topic><topic>Hemoglobinopathies - genetics</topic><topic>Hemoglobins, Abnormal - analysis</topic><topic>Hot Temperature</topic><topic>Humans</topic><topic>Male</topic><topic>Protein Denaturation</topic><topic>Thalassemia - blood</topic><topic>Thalassemia - etiology</topic><topic>Thalassemia - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Efremov, G D</creatorcontrib><creatorcontrib>Wrightstone, R N</creatorcontrib><creatorcontrib>Huisman, T H</creatorcontrib><creatorcontrib>Schroeder, W A</creatorcontrib><creatorcontrib>Hyman, C</creatorcontrib><creatorcontrib>Ortega, J</creatorcontrib><creatorcontrib>Williams, K</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><collection>PubMed Central (Full Participant titles)</collection><jtitle>The Journal of clinical investigation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Efremov, G D</au><au>Wrightstone, R N</au><au>Huisman, T H</au><au>Schroeder, W A</au><au>Hyman, C</au><au>Ortega, J</au><au>Williams, K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>An unusual hemoglobin anomaly and its relation to alpha-thalassemia and hemoglobin-H disease</atitle><jtitle>The Journal of clinical investigation</jtitle><addtitle>J Clin Invest</addtitle><date>1971-08-01</date><risdate>1971</risdate><volume>50</volume><issue>8</issue><spage>1628</spage><epage>1636</epage><pages>1628-1636</pages><issn>0021-9738</issn><abstract>A Chinese family with hemoglobin H in the propositus has been reinvestigated. Although the original propositus is now deceased, a sister has the same hematological manifestations. Her hemoglobin, like that of the deceased sister, contains hemoglobins A, H, and Bart's. In addition, however, two minor components have been detected. These minor components appear to have abnormal alpha-chains and are also present in the maternal grandmother, the mother, a maternal aunt, and three other siblings but only in about one-tenth the amount. One of the minor components may be the same as Hb-Thai (25). The father has the characteristics of classical alpha-thalassemia. These results are discussed in relation to current concepts of alpha-thalassemia as they relate to "silent" and "classical" alpha-thalassemia and to possible multiple alpha-chain loci.</abstract><cop>United States</cop><pmid>5097570</pmid><doi>10.1172/JCI106651</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0021-9738 |
| ispartof | The Journal of clinical investigation, 1971-08, Vol.50 (8), p.1628-1636 |
| issn | 0021-9738 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_442062 |
| source | MEDLINE; PubMed Central (PMC); Alma/SFX Local Collection; EZB Electronic Journals Library |
| subjects | Adolescent Amino Acids - analysis Asian Continental Ancestry Group Blood Protein Electrophoresis Child China Chromatography Female Follow-Up Studies Hemoglobinopathies - blood Hemoglobinopathies - etiology Hemoglobinopathies - genetics Hemoglobins, Abnormal - analysis Hot Temperature Humans Male Protein Denaturation Thalassemia - blood Thalassemia - etiology Thalassemia - genetics |
| title | An unusual hemoglobin anomaly and its relation to alpha-thalassemia and hemoglobin-H disease |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-11T15%3A21%3A50IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=An%20unusual%20hemoglobin%20anomaly%20and%20its%20relation%20to%20alpha-thalassemia%20and%20hemoglobin-H%20disease&rft.jtitle=The%20Journal%20of%20clinical%20investigation&rft.au=Efremov,%20G%20D&rft.date=1971-08-01&rft.volume=50&rft.issue=8&rft.spage=1628&rft.epage=1636&rft.pages=1628-1636&rft.issn=0021-9738&rft_id=info:doi/10.1172/JCI106651&rft_dat=%3Cproquest_pubme%3E81120443%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=81120443&rft_id=info:pmid/5097570&rfr_iscdi=true |