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.authorRumaney, Maryam Bibien_ZA
dc.contributor.authorBitoungui, Valentina Josiane Ngoen_ZA
dc.contributor.authorVorster, Anna Alveraen_ZA
dc.contributor.authorRamesar, Rajen_ZA
dc.contributor.authorKengne, Andre Pascalen_ZA
dc.contributor.authorNgogang, Jeanneen_ZA
dc.contributor.authorWonkam, Ambroiseen_ZA
dc.date.accessioned2015-12-20T16:07:06Z
dc.date.available2015-12-20T16:07:06Z
dc.date.issued2014en_ZA
dc.description.abstractBACKGROUND: 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.identifier.apacitationRumaney, 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/11427/15928en_ZA
dc.identifier.chicagocitationRumaney, 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/11427/15928en_ZA
dc.identifier.citationRumaney, 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.0100516en_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
dc.identifier.urihttp://hdl.handle.net/11427/15928
dc.identifier.urihttp://dx.doi.org/10.1371/journal.pone.0100516
dc.identifier.vancouvercitationRumaney 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.language.isoengen_ZA
dc.publisherPublic Library of Scienceen_ZA
dc.publisher.departmentDivision of Human Geneticsen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.rightsThis 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.holder© 2014 Rumaney et alen_ZA
dc.rights.urihttp://creativecommons.org/licenses/by/4.0en_ZA
dc.sourcePLoS Oneen_ZA
dc.source.urihttp://journals.plos.org/plosoneen_ZA
dc.subject.otherDeletion mutationen_ZA
dc.subject.otherCameroonen_ZA
dc.subject.otherHaplotypesen_ZA
dc.subject.otherAfricaen_ZA
dc.subject.otherLymphocytesen_ZA
dc.subject.otherMalariaen_ZA
dc.subject.otherPolymerase chain reactionen_ZA
dc.subject.otherSickle cell diseaseen_ZA
dc.titleThe 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 survivalen_ZA
dc.typeJournal Articleen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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