G6PD Deficiency and Hemoglobinopathies: Molecular Epidemiological Characteristics and Healthy Effects on Malaria Endemic Bioko Island, Equatorial Guinea
Glucose-6-phosphate dehydrogenase (G6PD) deficiency and hemoglobinopathies were the inherited conditions found mostly in African. However, few epidemiological data of these disorders was reported in Equatorial Guinea (EQG). This study aimed to assess the prevalence and healthy effects of G6PD defici...
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| Veröffentlicht in: | PloS one 2015-04, Vol.10 (4), p.e0123991-e0123991 |
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| creator | Lin, Min Yang, Li Ye Xie, Dong De Chen, Jiang Tao Nguba, Santiago-m Monte Ehapo, Carlos Sala Zhan, Xiao Fen Eyi, Juan Urbano Monsuy Matesa, Rocio Apicante Obono, Maximo Miko Ondo Yang, Hui Yang, Hui Tian Cheng, Ji Dong |
| description | Glucose-6-phosphate dehydrogenase (G6PD) deficiency and hemoglobinopathies were the inherited conditions found mostly in African. However, few epidemiological data of these disorders was reported in Equatorial Guinea (EQG). This study aimed to assess the prevalence and healthy effects of G6PD deficiency and hemoglobinopathies among the people on malaria endemic Bioko Island, EQG.
Blood samples from 4,144 unrelated subjects were analyzed for G6PD deficiency by fluorescence spot test (FST), high-resolution melting assay and PCR-DNA sequencing. In addition, 1,186 samples were randomly selected from the 4,144 subjects for detection of hemoglobin S (HbS), HbC, and α-thalassemia deletion by complete blood count, PCR-DNA sequencing and reverse dot blot (RDB).
The prevalence of malaria and anemia was 12.6% (522/4,144) and 32.8% (389/1,186), respectively. Overall, 8.7% subjects (359/4,144) were G6PD-deficient by FST, including 9.0% (249/2,758) males and 7.9% (110/1,386) females. Among the 359 G6PD-deficient individuals molecularly studied, the G6PD A- (G202A/A376G) were detected in 356 cases (99.2%), G6PD Betica (T968C/A376G) in 3 cases. Among the 1,186 subjects, 201 cases were HbS heterozygotes, 35 cases were HbC heterozygotes, and 2 cases were HbCS double heterozygotes; 452 cases showed heterozygous α-thalassemia 3.7 kb deletion (-α3.7 kb deletion) and 85 homozygous - α3.7 kb deletion. The overall allele frequencies were HbS 17.1% (203/1186); HbC, 3.1% (37/1186); and -α3.7 kb deletion 52.4% (622/1186), respectively.
High G6PD deficiency in this population indicate that diagnosis and management of G6PD deficiency is necessary on Bioko Island. Obligatory newborn screening, prenatal screening and counseling for these genetic disorders, especially HbS, are needed on the island. |
| doi_str_mv | 10.1371/journal.pone.0123991 |
| format | Article |
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Blood samples from 4,144 unrelated subjects were analyzed for G6PD deficiency by fluorescence spot test (FST), high-resolution melting assay and PCR-DNA sequencing. In addition, 1,186 samples were randomly selected from the 4,144 subjects for detection of hemoglobin S (HbS), HbC, and α-thalassemia deletion by complete blood count, PCR-DNA sequencing and reverse dot blot (RDB).
The prevalence of malaria and anemia was 12.6% (522/4,144) and 32.8% (389/1,186), respectively. Overall, 8.7% subjects (359/4,144) were G6PD-deficient by FST, including 9.0% (249/2,758) males and 7.9% (110/1,386) females. Among the 359 G6PD-deficient individuals molecularly studied, the G6PD A- (G202A/A376G) were detected in 356 cases (99.2%), G6PD Betica (T968C/A376G) in 3 cases. Among the 1,186 subjects, 201 cases were HbS heterozygotes, 35 cases were HbC heterozygotes, and 2 cases were HbCS double heterozygotes; 452 cases showed heterozygous α-thalassemia 3.7 kb deletion (-α3.7 kb deletion) and 85 homozygous - α3.7 kb deletion. The overall allele frequencies were HbS 17.1% (203/1186); HbC, 3.1% (37/1186); and -α3.7 kb deletion 52.4% (622/1186), respectively.
High G6PD deficiency in this population indicate that diagnosis and management of G6PD deficiency is necessary on Bioko Island. Obligatory newborn screening, prenatal screening and counseling for these genetic disorders, especially HbS, are needed on the island.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0123991</identifier><identifier>PMID: 25915902</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adolescent ; Adult ; Aged ; Analysis ; Anemia ; Blood ; Blood tests ; Child ; Child, Preschool ; Deoxyribonucleic acid ; Disorders ; DNA ; DNA sequencing ; Endemic Diseases - statistics & numerical data ; Epidemiology ; Equatorial Guinea ; Female ; Females ; Fluorescence ; Gene deletion ; Gene frequency ; Gene sequencing ; Genetic disorders ; Glucose 6 phosphate dehydrogenase ; Glucosephosphate dehydrogenase ; Glucosephosphate Dehydrogenase - genetics ; Glucosephosphate Dehydrogenase - metabolism ; Glucosephosphate Dehydrogenase Deficiency - epidemiology ; Glucosephosphate Dehydrogenase Deficiency - genetics ; Hemoglobin ; Hemoglobin C - genetics ; Hemoglobin, Sickle - genetics ; Hemoglobinopathies ; Hemoglobinopathies - epidemiology ; Hemoglobinopathies - genetics ; Heterozygotes ; Humans ; Infant ; Malaria ; Malaria - epidemiology ; Male ; Males ; Middle Aged ; Mutation ; Phosphates ; Plasmodium falciparum ; Plasmodium vivax ; Polymerase chain reaction ; Screening ; Sickle hemoglobin ; Thalassemia ; Vector-borne diseases</subject><ispartof>PloS one, 2015-04, Vol.10 (4), p.e0123991-e0123991</ispartof><rights>COPYRIGHT 2015 Public Library of Science</rights><rights>2015 Lin et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2015 Lin et al 2015 Lin et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-9bedd1889b3c8d1bbe0311d17261605bed494bcb7e6f2fd6434206d25a84d8a13</citedby><cites>FETCH-LOGICAL-c692t-9bedd1889b3c8d1bbe0311d17261605bed494bcb7e6f2fd6434206d25a84d8a13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411145/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411145/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79342,79343</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25915902$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lin, Min</creatorcontrib><creatorcontrib>Yang, Li Ye</creatorcontrib><creatorcontrib>Xie, Dong De</creatorcontrib><creatorcontrib>Chen, Jiang Tao</creatorcontrib><creatorcontrib>Nguba, Santiago-m Monte</creatorcontrib><creatorcontrib>Ehapo, Carlos Sala</creatorcontrib><creatorcontrib>Zhan, Xiao Fen</creatorcontrib><creatorcontrib>Eyi, Juan Urbano Monsuy</creatorcontrib><creatorcontrib>Matesa, Rocio Apicante</creatorcontrib><creatorcontrib>Obono, Maximo Miko Ondo</creatorcontrib><creatorcontrib>Yang, Hui</creatorcontrib><creatorcontrib>Yang, Hui Tian</creatorcontrib><creatorcontrib>Cheng, Ji Dong</creatorcontrib><title>G6PD Deficiency and Hemoglobinopathies: Molecular Epidemiological Characteristics and Healthy Effects on Malaria Endemic Bioko Island, Equatorial Guinea</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Glucose-6-phosphate dehydrogenase (G6PD) deficiency and hemoglobinopathies were the inherited conditions found mostly in African. However, few epidemiological data of these disorders was reported in Equatorial Guinea (EQG). This study aimed to assess the prevalence and healthy effects of G6PD deficiency and hemoglobinopathies among the people on malaria endemic Bioko Island, EQG.
Blood samples from 4,144 unrelated subjects were analyzed for G6PD deficiency by fluorescence spot test (FST), high-resolution melting assay and PCR-DNA sequencing. In addition, 1,186 samples were randomly selected from the 4,144 subjects for detection of hemoglobin S (HbS), HbC, and α-thalassemia deletion by complete blood count, PCR-DNA sequencing and reverse dot blot (RDB).
The prevalence of malaria and anemia was 12.6% (522/4,144) and 32.8% (389/1,186), respectively. Overall, 8.7% subjects (359/4,144) were G6PD-deficient by FST, including 9.0% (249/2,758) males and 7.9% (110/1,386) females. Among the 359 G6PD-deficient individuals molecularly studied, the G6PD A- (G202A/A376G) were detected in 356 cases (99.2%), G6PD Betica (T968C/A376G) in 3 cases. Among the 1,186 subjects, 201 cases were HbS heterozygotes, 35 cases were HbC heterozygotes, and 2 cases were HbCS double heterozygotes; 452 cases showed heterozygous α-thalassemia 3.7 kb deletion (-α3.7 kb deletion) and 85 homozygous - α3.7 kb deletion. The overall allele frequencies were HbS 17.1% (203/1186); HbC, 3.1% (37/1186); and -α3.7 kb deletion 52.4% (622/1186), respectively.
High G6PD deficiency in this population indicate that diagnosis and management of G6PD deficiency is necessary on Bioko Island. Obligatory newborn screening, prenatal screening and counseling for these genetic disorders, especially HbS, are needed on the island.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Analysis</subject><subject>Anemia</subject><subject>Blood</subject><subject>Blood tests</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Deoxyribonucleic acid</subject><subject>Disorders</subject><subject>DNA</subject><subject>DNA sequencing</subject><subject>Endemic Diseases - statistics & numerical data</subject><subject>Epidemiology</subject><subject>Equatorial Guinea</subject><subject>Female</subject><subject>Females</subject><subject>Fluorescence</subject><subject>Gene deletion</subject><subject>Gene frequency</subject><subject>Gene sequencing</subject><subject>Genetic disorders</subject><subject>Glucose 6 phosphate dehydrogenase</subject><subject>Glucosephosphate dehydrogenase</subject><subject>Glucosephosphate Dehydrogenase - genetics</subject><subject>Glucosephosphate Dehydrogenase - metabolism</subject><subject>Glucosephosphate Dehydrogenase Deficiency - epidemiology</subject><subject>Glucosephosphate Dehydrogenase Deficiency - genetics</subject><subject>Hemoglobin</subject><subject>Hemoglobin C - genetics</subject><subject>Hemoglobin, Sickle - genetics</subject><subject>Hemoglobinopathies</subject><subject>Hemoglobinopathies - epidemiology</subject><subject>Hemoglobinopathies - genetics</subject><subject>Heterozygotes</subject><subject>Humans</subject><subject>Infant</subject><subject>Malaria</subject><subject>Malaria - epidemiology</subject><subject>Male</subject><subject>Males</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Phosphates</subject><subject>Plasmodium falciparum</subject><subject>Plasmodium vivax</subject><subject>Polymerase chain reaction</subject><subject>Screening</subject><subject>Sickle hemoglobin</subject><subject>Thalassemia</subject><subject>Vector-borne 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Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lin, Min</au><au>Yang, Li Ye</au><au>Xie, Dong De</au><au>Chen, Jiang Tao</au><au>Nguba, Santiago-m Monte</au><au>Ehapo, Carlos Sala</au><au>Zhan, Xiao Fen</au><au>Eyi, Juan Urbano Monsuy</au><au>Matesa, Rocio Apicante</au><au>Obono, Maximo Miko Ondo</au><au>Yang, Hui</au><au>Yang, Hui Tian</au><au>Cheng, Ji Dong</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>G6PD Deficiency and Hemoglobinopathies: Molecular Epidemiological Characteristics and Healthy Effects on Malaria Endemic Bioko Island, Equatorial Guinea</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2015-04-27</date><risdate>2015</risdate><volume>10</volume><issue>4</issue><spage>e0123991</spage><epage>e0123991</epage><pages>e0123991-e0123991</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Glucose-6-phosphate dehydrogenase (G6PD) deficiency and hemoglobinopathies were the inherited conditions found mostly in African. However, few epidemiological data of these disorders was reported in Equatorial Guinea (EQG). This study aimed to assess the prevalence and healthy effects of G6PD deficiency and hemoglobinopathies among the people on malaria endemic Bioko Island, EQG.
Blood samples from 4,144 unrelated subjects were analyzed for G6PD deficiency by fluorescence spot test (FST), high-resolution melting assay and PCR-DNA sequencing. In addition, 1,186 samples were randomly selected from the 4,144 subjects for detection of hemoglobin S (HbS), HbC, and α-thalassemia deletion by complete blood count, PCR-DNA sequencing and reverse dot blot (RDB).
The prevalence of malaria and anemia was 12.6% (522/4,144) and 32.8% (389/1,186), respectively. Overall, 8.7% subjects (359/4,144) were G6PD-deficient by FST, including 9.0% (249/2,758) males and 7.9% (110/1,386) females. Among the 359 G6PD-deficient individuals molecularly studied, the G6PD A- (G202A/A376G) were detected in 356 cases (99.2%), G6PD Betica (T968C/A376G) in 3 cases. Among the 1,186 subjects, 201 cases were HbS heterozygotes, 35 cases were HbC heterozygotes, and 2 cases were HbCS double heterozygotes; 452 cases showed heterozygous α-thalassemia 3.7 kb deletion (-α3.7 kb deletion) and 85 homozygous - α3.7 kb deletion. The overall allele frequencies were HbS 17.1% (203/1186); HbC, 3.1% (37/1186); and -α3.7 kb deletion 52.4% (622/1186), respectively.
High G6PD deficiency in this population indicate that diagnosis and management of G6PD deficiency is necessary on Bioko Island. Obligatory newborn screening, prenatal screening and counseling for these genetic disorders, especially HbS, are needed on the island.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>25915902</pmid><doi>10.1371/journal.pone.0123991</doi><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2015-04, Vol.10 (4), p.e0123991-e0123991 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_1676151992 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Free Full-Text Journals in Chemistry; Public Library of Science (PLoS) |
| subjects | Adolescent Adult Aged Analysis Anemia Blood Blood tests Child Child, Preschool Deoxyribonucleic acid Disorders DNA DNA sequencing Endemic Diseases - statistics & numerical data Epidemiology Equatorial Guinea Female Females Fluorescence Gene deletion Gene frequency Gene sequencing Genetic disorders Glucose 6 phosphate dehydrogenase Glucosephosphate dehydrogenase Glucosephosphate Dehydrogenase - genetics Glucosephosphate Dehydrogenase - metabolism Glucosephosphate Dehydrogenase Deficiency - epidemiology Glucosephosphate Dehydrogenase Deficiency - genetics Hemoglobin Hemoglobin C - genetics Hemoglobin, Sickle - genetics Hemoglobinopathies Hemoglobinopathies - epidemiology Hemoglobinopathies - genetics Heterozygotes Humans Infant Malaria Malaria - epidemiology Male Males Middle Aged Mutation Phosphates Plasmodium falciparum Plasmodium vivax Polymerase chain reaction Screening Sickle hemoglobin Thalassemia Vector-borne diseases |
| title | G6PD Deficiency and Hemoglobinopathies: Molecular Epidemiological Characteristics and Healthy Effects on Malaria Endemic Bioko Island, Equatorial Guinea |
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