HbF-promoting polymorphisms may specifically reduce the residual risk of cerebral vasculopathy in SCA children with alpha-thalassemia
| العنوان: | HbF-promoting polymorphisms may specifically reduce the residual risk of cerebral vasculopathy in SCA children with alpha-thalassemia |
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| المؤلفون: | Philippe Connes, Céline Renoux, Abdourahim Chamouine, Yves Bertrand, Françoise Bernaudin, Nathalie Bonello-Palot, Catherine Badens, Philippe Joly, Serge Pissard |
| المساهمون: | Gall, Valérie, Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM ), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence des Syndromes Drépanocytaires Majeurs, Thalassémies et Autres pathologies rares du globule rouge et de l’Erythropoïèse, Assistance Publique - Hôpitaux de Marseille (APHM), Hôpital Henri Mondor, Centre Hospitalier de Mayotte, Centre Hospitalier Intercommunal de Créteil (CHIC), Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] (IHOPe), Hospices Civils de Lyon (HCL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]) |
| المصدر: | Clinical Hemorheology and Microcirculation Clinical Hemorheology and Microcirculation, IOS Press, 2021, 77 (3), pp.267-272. ⟨10.3233/CH-200951⟩ Clinical Hemorheology and Microcirculation, 2021, 77 (3), pp.267-272. ⟨10.3233/CH-200951⟩ |
| بيانات النشر: | IOS Press, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Male, congenital, hereditary, and neonatal diseases and abnormalities, Physiology, Anemia, Sickle Cell, [SDV.GEN] Life Sciences [q-bio]/Genetics, Alpha-thalassemia, Disease, Quantitative trait locus, Polymorphism, Single Nucleotide, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, alpha-Thalassemia, hemic and lymphatic diseases, Physiology (medical), Genotype, medicine, Humans, Child, Fetal Hemoglobin, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Hematology, medicine.disease, Sickle cell anemia, Residual risk, Red blood cell, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Immunology, Female, Cardiology and Cardiovascular Medicine, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030215 immunology |
| الوصف: | International audience; Sickle cell anemia (SCA) is a disease characterized by abnormal red blood cell rheology. Because of their effects on HbS polymerization and red blood cell deformability, alpha-thalassemia and the residual HbF level are known genetic modifiers of the disease. The aim of our study was to determine if the number of HbF quantitative trait loci (QTL) would also favor a specific sub-phenotype of SCA as it is the case for alpha-thalassemia. Our results confirmed that alpha-thalassemia protected from cerebral vasculopathy but increased the risk for frequent painful vaso-occlusive crises. We also showed that more HbF-QTL may provide an additional and specific protection against cerebral vasculopathy but only for children with alpha-thalassemia (-α/αα or -α/-α genotypes). |
| وصف الملف: | application/pdf |
| تدمد: | 1875-8622 1386-0291 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd26c9c0bc089d9bd57e7ff46c8eb1cd https://doi.org/10.3233/ch-200951 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....fd26c9c0bc089d9bd57e7ff46c8eb1cd |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18758622 13860291 |
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