The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival

 

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dc.contributor.author Rumaney, Maryam Bibi en_ZA
dc.contributor.author Bitoungui, Valentina Josiane Ngo en_ZA
dc.contributor.author Vorster, Anna Alvera en_ZA
dc.contributor.author Ramesar, Raj en_ZA
dc.contributor.author Kengne, Andre Pascal en_ZA
dc.contributor.author Ngogang, Jeanne en_ZA
dc.contributor.author Wonkam, Ambroise en_ZA
dc.date.accessioned 2015-12-20T16:07:06Z
dc.date.available 2015-12-20T16:07:06Z
dc.date.issued 2014 en_ZA
dc.identifier.citation Rumaney, M. B., Ngo, B. V., Vorster, A. A., Ramesar, R., Kengne, A. P., Ngogang, J., & Wonkam, A. (2013). The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival. PloS one, 9(6), e100516-e100516. doi:10.1371/journal.pone.0100516 en_ZA
dc.identifier.uri http://hdl.handle.net/11427/15928
dc.identifier.uri http://dx.doi.org/10.1371/journal.pone.0100516
dc.description.abstract BACKGROUND: Co-inheritance of α-thalassemia was reported to be associated with a delayed age of disease onset among Cameroonian Sickle Cell Anemia (SCA) patients. The present study aimed to explore the correlation between α-thalassemia, hematological indices, and clinical events in these patients. Methods and FINDINGS: We studied 161 Cameroonian SCA patients and 103 controls (59.1% HbAA) with median ages of 17.5 and 23 years. RFLP-PCR was used to confirm SCA genotype and to describe haplotypes in the HBB-like genes cluster. Multiplex Gap-PCR was performed to investigate the 3.7 kb α-globin gene deletions. SNaPshot PCR, capillary electrophoresis and cycle sequencing were used for the genotyping of 10 SNPs in BCL11A , HMIP1/2 , OR51B5/6 and HBG loci, known to influence HbF levels. Generalised linear regression models adjusted for age, sex and SNPs genotypes was used to investigate effects of α-thalassemia on clinical and hematological indices. The median rate of vaso-occlusive painful crisis and hospitalisations was two and one per year, respectively. Stroke was reported in eight cases (7.4%). Benin haplotype was the most prevalent (66.3%; n = 208 chromosomes). Among patients, 37.3% ( n = 60) had at least one 3.7 kb deletion, compared to 10.9% ( n = 6) among HbAA controls (p<0.001). Among patients, the median RBC count increased with the number of 3.7 kb deletions [2.6, 3.0 and 3.4 million/dl, with no, one and two deletions (p = 0.01)]. The median MCV decreased with the number of 3.7 kb deletion [86, 80, and 68fl, with no, one and two deletions (p<0.0001)], as well as median WBC counts [13.2, 10.5 and 9.8×10 9 /L (p<0.0001. The co-inheritance of α-thalassemia was associated with lower consultations rate (p = 0.038). CONCLUSION: The co-inheritance of α-thalassemia and SCA is associated with improved hematological indices, and lower consultations rate in this group of patients. This could possibly improve their survival and explain the higher proportion of α-thalassemia among patients than controls. en_ZA
dc.language.iso eng en_ZA
dc.publisher Public Library of Science en_ZA
dc.rights This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. en_ZA
dc.rights.uri http://creativecommons.org/licenses/by/4.0 en_ZA
dc.source PLoS One en_ZA
dc.source.uri http://journals.plos.org/plosone en_ZA
dc.subject.other Deletion mutation en_ZA
dc.subject.other Cameroon en_ZA
dc.subject.other Haplotypes en_ZA
dc.subject.other Africa en_ZA
dc.subject.other Lymphocytes en_ZA
dc.subject.other Malaria en_ZA
dc.subject.other Polymerase chain reaction en_ZA
dc.subject.other Sickle cell disease en_ZA
dc.title The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival en_ZA
dc.type Journal Article en_ZA
dc.rights.holder © 2014 Rumaney et al en_ZA
uct.type.publication Research en_ZA
uct.type.resource Article en_ZA
dc.publisher.institution University of Cape Town
dc.publisher.faculty Faculty of Health Sciences en_ZA
dc.publisher.department Division of Human Genetics en_ZA
uct.type.filetype Text
uct.type.filetype Image
dc.identifier.apacitation Rumaney, M. B., Bitoungui, V. J. N., Vorster, A. A., Ramesar, R., Kengne, A. P., Ngogang, J., & Wonkam, A. (2014). The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival. <i>PLoS One</i>, http://hdl.handle.net/11427/15928 en_ZA
dc.identifier.chicagocitation Rumaney, Maryam Bibi, Valentina Josiane Ngo Bitoungui, Anna Alvera Vorster, Raj Ramesar, Andre Pascal Kengne, Jeanne Ngogang, and Ambroise Wonkam "The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival." <i>PLoS One</i> (2014) http://hdl.handle.net/11427/15928 en_ZA
dc.identifier.vancouvercitation Rumaney MB, Bitoungui VJN, Vorster AA, Ramesar R, Kengne AP, Ngogang J, et al. The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival. PLoS One. 2014; http://hdl.handle.net/11427/15928. en_ZA
dc.identifier.ris TY - Journal Article AU - Rumaney, Maryam Bibi AU - Bitoungui, Valentina Josiane Ngo AU - Vorster, Anna Alvera AU - Ramesar, Raj AU - Kengne, Andre Pascal AU - Ngogang, Jeanne AU - Wonkam, Ambroise AB - BACKGROUND: Co-inheritance of α-thalassemia was reported to be associated with a delayed age of disease onset among Cameroonian Sickle Cell Anemia (SCA) patients. The present study aimed to explore the correlation between α-thalassemia, hematological indices, and clinical events in these patients. Methods and FINDINGS: We studied 161 Cameroonian SCA patients and 103 controls (59.1% HbAA) with median ages of 17.5 and 23 years. RFLP-PCR was used to confirm SCA genotype and to describe haplotypes in the HBB-like genes cluster. Multiplex Gap-PCR was performed to investigate the 3.7 kb α-globin gene deletions. SNaPshot PCR, capillary electrophoresis and cycle sequencing were used for the genotyping of 10 SNPs in BCL11A , HMIP1/2 , OR51B5/6 and HBG loci, known to influence HbF levels. Generalised linear regression models adjusted for age, sex and SNPs genotypes was used to investigate effects of α-thalassemia on clinical and hematological indices. The median rate of vaso-occlusive painful crisis and hospitalisations was two and one per year, respectively. Stroke was reported in eight cases (7.4%). Benin haplotype was the most prevalent (66.3%; n = 208 chromosomes). Among patients, 37.3% ( n = 60) had at least one 3.7 kb deletion, compared to 10.9% ( n = 6) among HbAA controls (p<0.001). Among patients, the median RBC count increased with the number of 3.7 kb deletions [2.6, 3.0 and 3.4 million/dl, with no, one and two deletions (p = 0.01)]. The median MCV decreased with the number of 3.7 kb deletion [86, 80, and 68fl, with no, one and two deletions (p<0.0001)], as well as median WBC counts [13.2, 10.5 and 9.8×10 9 /L (p<0.0001. The co-inheritance of α-thalassemia was associated with lower consultations rate (p = 0.038). CONCLUSION: The co-inheritance of α-thalassemia and SCA is associated with improved hematological indices, and lower consultations rate in this group of patients. This could possibly improve their survival and explain the higher proportion of α-thalassemia among patients than controls. DA - 2014 DB - OpenUCT DO - 10.1371/journal.pone.0100516 DP - University of Cape Town J1 - PLoS One LK - https://open.uct.ac.za PB - University of Cape Town PY - 2014 T1 - The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival TI - The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival UR - http://hdl.handle.net/11427/15928 ER - en_ZA


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This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Except where otherwise noted, this item's license is described as This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.