Publicação
Co-Inheritance of alpha-thalassemia and sickle cell disease in a cohort of Angolan pediatric patients
| datacite.subject.fos | Ciências Médicas | |
| datacite.subject.sdg | 03:Saúde de Qualidade | |
| dc.contributor.author | Santos, Brígida | |
| dc.contributor.author | Delgadinho, Mariana | |
| dc.contributor.author | Ginete, Catarina | |
| dc.contributor.author | Germano, Isabel | |
| dc.contributor.author | Miranda, Armandina | |
| dc.contributor.author | Arez, Ana Paula | |
| dc.contributor.author | Faustino, Paula | |
| dc.contributor.author | Brito, Miguel | |
| dc.date.accessioned | 2026-03-03T11:39:15Z | |
| dc.date.available | 2026-03-03T11:39:15Z | |
| dc.date.issued | 2025-06-03 | |
| dc.description.abstract | Introdution: Sickle cell disease (SCD) is a recessive hereditary disease and a major global health problem, affecting over 300.000 newborn infants each year, and it is estimated that 75% of these births occur in Sub-Saharan Africa. SCD is a monogenic disease; the clinical manifestations are very heterogeneous due to environmental and genetic factors; in particular, the co-inheritance of alpha-thalassemia and an innate ability to produce fetal haemoglobin are two major modifiers that substantially impact disease pathophysiology. Objectives: This study explores the association between alpha-thalassemia, fetal haemoglobin, haematological indices, and clinical adverse events in pediatric Angolan sickle cell disease pediatric patients. Methods: A total of 200 SCD children were selected, after guardian written informed consent. None of them was treated with hydroxyurea or transfusion in the last 3 months. A venous blood sample was collected from each participant in the context of the routine medical and used for hematological analyses, fetal hemoglobin quantification, and genotyping of 3.7 kb alpha-thalassemia deletion by GAP-PCR. Mean values, standard deviation, and frequency distributions were performed to estimate the hematological, clinical, and genetic data. Results: The frequency of the 3.7 kb alpha-thalassemia deletion in homozygosity was 12.5%, and in heterozygosity was 55.0%. An increase in alpha-thalassemia frequency was observed in children older than 5 years old (11.7% vs. 13.00%). Furthermore, 3.7 kb alpha-thalassemia deletion homozygotes had a significantly higher age of the first manifestation, lower number of blood transfusions by year, higher haemoglobin, lower mean corpuscular volume, mean corpuscular haemoglobin, and lower hemolytic rate observed by a lower number of reticulocytes count. There were no differences in fetal haemoglobin between the three genotypes. Moreover, the number of stroke events, osteomyelitis, splenomegaly, splenectomy, and hepatomegaly were lower when alpha-thalassemia was co-inherited. Conclusion: The effect of alpha-thalassemia deletion in SCD was analysed, and results reinforce that this trait influences the haematological and clinical aspects and produces a milder phenotype. | eng |
| dc.description.sponsorship | This work was supported by the Fundação para a Ciência e Tecnologia I.P./Aga Khan Development Network Project Number 330842553 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11025 | |
| dc.language.iso | eng | |
| dc.peerreviewed | yes | |
| dc.relation | 330842553 | |
| dc.relation.ispartofseries | não aplicável | |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
| dc.subject | Alfa-Talassémia | |
| dc.subject | Drepanocitose | |
| dc.subject | Sickle Cell Disease | |
| dc.subject | Fatores Genéticos Modificadores | |
| dc.subject | Doença Falciforme | |
| dc.subject | Doenças Genéticas | |
| dc.title | Co-Inheritance of alpha-thalassemia and sickle cell disease in a cohort of Angolan pediatric patients | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-06-03 | |
| oaire.citation.conferencePlace | Abuja, Nigeria | |
| oaire.citation.title | 5th Global Congress on Sickle Cell Disease, 3-6 June 2025 | |
| oaire.version | http://purl.org/coar/version/c_970fb48d4fbd8a85 |