β-globin gene cluster haplotypes in sickle cell patients from Panamá
Objective: To analyze the frequency of the haplotypes of β‐globin gene cluster in randomly selected patients withsickle cell disease (SCD), attended in the Children's Hospital of Panama. Methods: Five polymorphic sites in the β‐globin gene cluster were analyzed by polymerase chain reaction (PCR...
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| Veröffentlicht in: | American journal of human biology 2011-05, Vol.23 (3), p.377-380 |
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| creator | Rusanova, Iryna Cossio, Gladys Moreno, Bélgica Javier Perea, F. De Borace, Rosaura G. Perea, Mauricio Escames, Germaine Acuña-Castroviejo, Darío |
| description | Objective: To analyze the frequency of the haplotypes of β‐globin gene cluster in randomly selected patients withsickle cell disease (SCD), attended in the Children's Hospital of Panama.
Methods: Five polymorphic sites in the β‐globin gene cluster were analyzed by polymerase chain reaction (PCR) followed by restriction digestion and agarose gel electrophoresis in a total of 100 patients, including 95 homozygous for HbS (sickle cell anemia) and 5 compound heterozygotes for HbS and HbC genes (HbSC disease).
Results: The Bantu haplotype was predominant with a frequency of 51%, followed by the Benin (30%), Senegal (8.5%), and Cameroon (4%); other haplotypes were also identified. Genotype was CAR/CAR in 39 patients, BEN/BEN in 22, SEN/SEN in 6, CAM/CAM in 4, ARB/ARB in 1, CAR/BEN in 15, CAR/SEN in 5, CAR/Hp5 in 3, CAR/Hp1 in 1, BEN/Hp11 in 1, Atp Hp1/Hp1 in 2, and Atp Hp5/Hp5 in 1 individual. Hemoglobin concentrations, hematocrit, and mean corpuscular hemoglobin concentration values did not differ among homozygous forms of haplotypes. The mean HbF in all patients was 15.39 ± 1.21, whereas SEN/SEN patients had higher HbF than BEN/BEN patients (24.26 ± 4.18 vs. 13.17 ± 2.39, respectively, P < 0.05). The percentage of reticulocytes was highest in BEN/BEN and CAR/CAR, and it was associated with worst prognosis.
Conclusion: The results show the presence of common βS haplotypes in Panama; the prevalence of African origin, and the similarity in the Panamanian and Colombian distribution of haplotypes. Am. J. Hum. Biol. 2011. © 2011 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajhb.21148 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_861788983</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>861788983</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3668-803f3bf7cb40e1095a8bfc0a01c6f65c2d379f96818046ae7fc96ba4ed4d3f883</originalsourceid><addsrcrecordid>eNp9kE1OwzAQRi0EoqWw4QAoOySklHHsOM6yVLQFVcAChMTGchy7TZs_4lTQ43AFrsCeM5GS0iWrGWne92n0EDrF0McA3qVczKO-hzHle6iLfQ9cRgD2mx2o54JPSAcdWbsAgJABP0QdDxMeUD_ootH3pztLiyjJnZnOtaPSla115cxlmRb1utTWaU42Ucu0Oeo0dUpZJzqvrWOqInMeZC6zr49jdGBkavXJdvbQ0-j6cThxp_fjm-Fg6irCGHc5EEMiE6iIgsYQ-pJHRoEErJhhvvJiEoQmZBxzoEzqwKiQRZLqmMbEcE566LztLavidaVtLbLEbt6SuS5WVnCGA85DThryoiVVVVhbaSPKKslktRYYxEab2GgTv9oa-Gxbu4oyHe_QP08NgFvgLUn1-p8qMbidXP2Vum0maYy-7zKyWgoWkMAXz3djgV8ocDoOBSE_OwCHig</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>861788983</pqid></control><display><type>article</type><title>β-globin gene cluster haplotypes in sickle cell patients from Panamá</title><source>MEDLINE</source><source>Wiley Online Library All Journals</source><creator>Rusanova, Iryna ; Cossio, Gladys ; Moreno, Bélgica ; Javier Perea, F. ; De Borace, Rosaura G. ; Perea, Mauricio ; Escames, Germaine ; Acuña-Castroviejo, Darío</creator><creatorcontrib>Rusanova, Iryna ; Cossio, Gladys ; Moreno, Bélgica ; Javier Perea, F. ; De Borace, Rosaura G. ; Perea, Mauricio ; Escames, Germaine ; Acuña-Castroviejo, Darío</creatorcontrib><description>Objective: To analyze the frequency of the haplotypes of β‐globin gene cluster in randomly selected patients withsickle cell disease (SCD), attended in the Children's Hospital of Panama.
Methods: Five polymorphic sites in the β‐globin gene cluster were analyzed by polymerase chain reaction (PCR) followed by restriction digestion and agarose gel electrophoresis in a total of 100 patients, including 95 homozygous for HbS (sickle cell anemia) and 5 compound heterozygotes for HbS and HbC genes (HbSC disease).
Results: The Bantu haplotype was predominant with a frequency of 51%, followed by the Benin (30%), Senegal (8.5%), and Cameroon (4%); other haplotypes were also identified. Genotype was CAR/CAR in 39 patients, BEN/BEN in 22, SEN/SEN in 6, CAM/CAM in 4, ARB/ARB in 1, CAR/BEN in 15, CAR/SEN in 5, CAR/Hp5 in 3, CAR/Hp1 in 1, BEN/Hp11 in 1, Atp Hp1/Hp1 in 2, and Atp Hp5/Hp5 in 1 individual. Hemoglobin concentrations, hematocrit, and mean corpuscular hemoglobin concentration values did not differ among homozygous forms of haplotypes. The mean HbF in all patients was 15.39 ± 1.21, whereas SEN/SEN patients had higher HbF than BEN/BEN patients (24.26 ± 4.18 vs. 13.17 ± 2.39, respectively, P < 0.05). The percentage of reticulocytes was highest in BEN/BEN and CAR/CAR, and it was associated with worst prognosis.
Conclusion: The results show the presence of common βS haplotypes in Panama; the prevalence of African origin, and the similarity in the Panamanian and Colombian distribution of haplotypes. Am. J. Hum. Biol. 2011. © 2011 Wiley‐Liss, Inc.</description><identifier>ISSN: 1042-0533</identifier><identifier>EISSN: 1520-6300</identifier><identifier>DOI: 10.1002/ajhb.21148</identifier><identifier>PMID: 21387457</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adolescent ; Anemia, Sickle Cell - genetics ; beta-Globins - genetics ; Child ; Child, Preschool ; Erythrocytes, Abnormal - pathology ; Female ; Fetal Hemoglobin - genetics ; Genotype ; Haplotypes ; Hemoglobin, Sickle - genetics ; Hospitalization ; Humans ; Infant ; Male ; Multigene Family ; Panama ; Polymerase Chain Reaction ; Polymorphism, Genetic</subject><ispartof>American journal of human biology, 2011-05, Vol.23 (3), p.377-380</ispartof><rights>Copyright © 2011 Wiley‐Liss, Inc.</rights><rights>Copyright © 2011 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3668-803f3bf7cb40e1095a8bfc0a01c6f65c2d379f96818046ae7fc96ba4ed4d3f883</citedby><cites>FETCH-LOGICAL-c3668-803f3bf7cb40e1095a8bfc0a01c6f65c2d379f96818046ae7fc96ba4ed4d3f883</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajhb.21148$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajhb.21148$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21387457$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rusanova, Iryna</creatorcontrib><creatorcontrib>Cossio, Gladys</creatorcontrib><creatorcontrib>Moreno, Bélgica</creatorcontrib><creatorcontrib>Javier Perea, F.</creatorcontrib><creatorcontrib>De Borace, Rosaura G.</creatorcontrib><creatorcontrib>Perea, Mauricio</creatorcontrib><creatorcontrib>Escames, Germaine</creatorcontrib><creatorcontrib>Acuña-Castroviejo, Darío</creatorcontrib><title>β-globin gene cluster haplotypes in sickle cell patients from Panamá</title><title>American journal of human biology</title><addtitle>Am. J. Hum. Biol</addtitle><description>Objective: To analyze the frequency of the haplotypes of β‐globin gene cluster in randomly selected patients withsickle cell disease (SCD), attended in the Children's Hospital of Panama.
Methods: Five polymorphic sites in the β‐globin gene cluster were analyzed by polymerase chain reaction (PCR) followed by restriction digestion and agarose gel electrophoresis in a total of 100 patients, including 95 homozygous for HbS (sickle cell anemia) and 5 compound heterozygotes for HbS and HbC genes (HbSC disease).
Results: The Bantu haplotype was predominant with a frequency of 51%, followed by the Benin (30%), Senegal (8.5%), and Cameroon (4%); other haplotypes were also identified. Genotype was CAR/CAR in 39 patients, BEN/BEN in 22, SEN/SEN in 6, CAM/CAM in 4, ARB/ARB in 1, CAR/BEN in 15, CAR/SEN in 5, CAR/Hp5 in 3, CAR/Hp1 in 1, BEN/Hp11 in 1, Atp Hp1/Hp1 in 2, and Atp Hp5/Hp5 in 1 individual. Hemoglobin concentrations, hematocrit, and mean corpuscular hemoglobin concentration values did not differ among homozygous forms of haplotypes. The mean HbF in all patients was 15.39 ± 1.21, whereas SEN/SEN patients had higher HbF than BEN/BEN patients (24.26 ± 4.18 vs. 13.17 ± 2.39, respectively, P < 0.05). The percentage of reticulocytes was highest in BEN/BEN and CAR/CAR, and it was associated with worst prognosis.
Conclusion: The results show the presence of common βS haplotypes in Panama; the prevalence of African origin, and the similarity in the Panamanian and Colombian distribution of haplotypes. Am. J. Hum. Biol. 2011. © 2011 Wiley‐Liss, Inc.</description><subject>Adolescent</subject><subject>Anemia, Sickle Cell - genetics</subject><subject>beta-Globins - genetics</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Erythrocytes, Abnormal - pathology</subject><subject>Female</subject><subject>Fetal Hemoglobin - genetics</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Hemoglobin, Sickle - genetics</subject><subject>Hospitalization</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Multigene Family</subject><subject>Panama</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><issn>1042-0533</issn><issn>1520-6300</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1OwzAQRi0EoqWw4QAoOySklHHsOM6yVLQFVcAChMTGchy7TZs_4lTQ43AFrsCeM5GS0iWrGWne92n0EDrF0McA3qVczKO-hzHle6iLfQ9cRgD2mx2o54JPSAcdWbsAgJABP0QdDxMeUD_ootH3pztLiyjJnZnOtaPSla115cxlmRb1utTWaU42Ucu0Oeo0dUpZJzqvrWOqInMeZC6zr49jdGBkavXJdvbQ0-j6cThxp_fjm-Fg6irCGHc5EEMiE6iIgsYQ-pJHRoEErJhhvvJiEoQmZBxzoEzqwKiQRZLqmMbEcE566LztLavidaVtLbLEbt6SuS5WVnCGA85DThryoiVVVVhbaSPKKslktRYYxEab2GgTv9oa-Gxbu4oyHe_QP08NgFvgLUn1-p8qMbidXP2Vum0maYy-7zKyWgoWkMAXz3djgV8ocDoOBSE_OwCHig</recordid><startdate>201105</startdate><enddate>201105</enddate><creator>Rusanova, Iryna</creator><creator>Cossio, Gladys</creator><creator>Moreno, Bélgica</creator><creator>Javier Perea, F.</creator><creator>De Borace, Rosaura G.</creator><creator>Perea, Mauricio</creator><creator>Escames, Germaine</creator><creator>Acuña-Castroviejo, Darío</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</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>201105</creationdate><title>β-globin gene cluster haplotypes in sickle cell patients from Panamá</title><author>Rusanova, Iryna ; Cossio, Gladys ; Moreno, Bélgica ; Javier Perea, F. ; De Borace, Rosaura G. ; Perea, Mauricio ; Escames, Germaine ; Acuña-Castroviejo, Darío</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3668-803f3bf7cb40e1095a8bfc0a01c6f65c2d379f96818046ae7fc96ba4ed4d3f883</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adolescent</topic><topic>Anemia, Sickle Cell - genetics</topic><topic>beta-Globins - genetics</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Erythrocytes, Abnormal - pathology</topic><topic>Female</topic><topic>Fetal Hemoglobin - genetics</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Hemoglobin, Sickle - genetics</topic><topic>Hospitalization</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Multigene Family</topic><topic>Panama</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rusanova, Iryna</creatorcontrib><creatorcontrib>Cossio, Gladys</creatorcontrib><creatorcontrib>Moreno, Bélgica</creatorcontrib><creatorcontrib>Javier Perea, F.</creatorcontrib><creatorcontrib>De Borace, Rosaura G.</creatorcontrib><creatorcontrib>Perea, Mauricio</creatorcontrib><creatorcontrib>Escames, Germaine</creatorcontrib><creatorcontrib>Acuña-Castroviejo, Darío</creatorcontrib><collection>Istex</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>American journal of human biology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rusanova, Iryna</au><au>Cossio, Gladys</au><au>Moreno, Bélgica</au><au>Javier Perea, F.</au><au>De Borace, Rosaura G.</au><au>Perea, Mauricio</au><au>Escames, Germaine</au><au>Acuña-Castroviejo, Darío</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>β-globin gene cluster haplotypes in sickle cell patients from Panamá</atitle><jtitle>American journal of human biology</jtitle><addtitle>Am. J. Hum. Biol</addtitle><date>2011-05</date><risdate>2011</risdate><volume>23</volume><issue>3</issue><spage>377</spage><epage>380</epage><pages>377-380</pages><issn>1042-0533</issn><eissn>1520-6300</eissn><abstract>Objective: To analyze the frequency of the haplotypes of β‐globin gene cluster in randomly selected patients withsickle cell disease (SCD), attended in the Children's Hospital of Panama.
Methods: Five polymorphic sites in the β‐globin gene cluster were analyzed by polymerase chain reaction (PCR) followed by restriction digestion and agarose gel electrophoresis in a total of 100 patients, including 95 homozygous for HbS (sickle cell anemia) and 5 compound heterozygotes for HbS and HbC genes (HbSC disease).
Results: The Bantu haplotype was predominant with a frequency of 51%, followed by the Benin (30%), Senegal (8.5%), and Cameroon (4%); other haplotypes were also identified. Genotype was CAR/CAR in 39 patients, BEN/BEN in 22, SEN/SEN in 6, CAM/CAM in 4, ARB/ARB in 1, CAR/BEN in 15, CAR/SEN in 5, CAR/Hp5 in 3, CAR/Hp1 in 1, BEN/Hp11 in 1, Atp Hp1/Hp1 in 2, and Atp Hp5/Hp5 in 1 individual. Hemoglobin concentrations, hematocrit, and mean corpuscular hemoglobin concentration values did not differ among homozygous forms of haplotypes. The mean HbF in all patients was 15.39 ± 1.21, whereas SEN/SEN patients had higher HbF than BEN/BEN patients (24.26 ± 4.18 vs. 13.17 ± 2.39, respectively, P < 0.05). The percentage of reticulocytes was highest in BEN/BEN and CAR/CAR, and it was associated with worst prognosis.
Conclusion: The results show the presence of common βS haplotypes in Panama; the prevalence of African origin, and the similarity in the Panamanian and Colombian distribution of haplotypes. Am. J. Hum. Biol. 2011. © 2011 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>21387457</pmid><doi>10.1002/ajhb.21148</doi><tpages>4</tpages></addata></record> |
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| subjects | Adolescent Anemia, Sickle Cell - genetics beta-Globins - genetics Child Child, Preschool Erythrocytes, Abnormal - pathology Female Fetal Hemoglobin - genetics Genotype Haplotypes Hemoglobin, Sickle - genetics Hospitalization Humans Infant Male Multigene Family Panama Polymerase Chain Reaction Polymorphism, Genetic |
| title | β-globin gene cluster haplotypes in sickle cell patients from Panamá |
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