{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T21:05:33Z","timestamp":1777496733611,"version":"3.51.4"},"reference-count":19,"publisher":"SAGE Publications","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CH"],"published-print":{"date-parts":[[2021,4,24]]},"abstract":"<jats:p>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 (-\u03b1\/\u03b1\u03b1 or -\u03b1\/-\u03b1 genotypes).<\/jats:p>","DOI":"10.3233\/ch-200951","type":"journal-article","created":{"date-parts":[[2020,11,17]],"date-time":"2020-11-17T12:27:28Z","timestamp":1605616048000},"page":"267-272","source":"Crossref","is-referenced-by-count":3,"title":["HbF-promoting polymorphisms may specifically reduce the residual risk of cerebral vasculopathy in SCA children with alpha-thalassemia"],"prefix":"10.1177","volume":"77","author":[{"given":"Philippe","family":"Joly","sequence":"first","affiliation":[{"name":"Laboratoire Interuniversitaire de Biologie de la Motricit\u00e9 (LIBM) EA7424, Equipe \u201cBiologie Vasculaire et du Globule Rouge\u201d, Universit\u00e9 Claude Bernard Lyon 1, COMUE Lyon, France"},{"name":"Laboratoire d\u2019Excellence du Globule Rouge (Labex GR-Ex), PRES Sorbonne, Paris, France"},{"name":"UF \u201cBiochimie des Pathologies \u00c9rythrocytaires\u201d, Laboratoire de Biochimie et Biologie Mol\u00e9culaire Grand-Est, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Bonello-Palot","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares du Globule Rouge, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, H\u00f4pital de la Timone, APHM, Aix Marseille Universit\u00e9, INSERM, MMG, Marseille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Badens","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares du Globule Rouge, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, H\u00f4pital de la Timone, APHM, Aix Marseille Universit\u00e9, INSERM, MMG, Marseille, 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