title: G6PD deficiency and absence of α-thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia.
abstract: The aim of this study was to test the association between hematological/genetic factors and cerebral vasculopathy in children with sickle cell anemia (SCA). A group with cerebral vasculopathy (VASC) was composed of children who had stroke (n = 6), silent infarct (n = 11), or an abnormal transcranial Doppler (n = 5). Eighty-four patients had neither positive history of stroke or silent infarct, nor abnormal transcranial Doppler (NORM group). An intermediate group (COND; n = 15) was composed of SCA children with a conditional transcranial Doppler. Biological analyses were performed on samples obtained at steady state and before the beginning of any chronic treatment. The comparisons of the three groups demonstrated a protective effect of α-thalassemia against cerebral vasculopathy through its effects on hemoglobin and reticulocyte levels. Moreover, we observed higher frequency of G6PD deficiency in the VASC group compared with the other groups. Our study confirms the key role of α-thalassemia and G6PD status in the pathophysiology of cerebral vasculopathy in SCA children.
authors.affiliation: Unité de Pathologie Moléculaire du Globule Rouge, Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France.|Laboratoire CRIS EA 647, Section "Vascular Biology and Red Blood Cell", Université Claude Bernard Lyon 1, Lyon, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Joly
authors.affiliation: Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Garnier
authors.affiliation: Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.
authors.forename: Kamila
authors.initials: K
authors.lastname: Kebaili
authors.affiliation: Unité de Pathologie Moléculaire du Globule Rouge, Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France.|Laboratoire CRIS EA 647, Section "Vascular Biology and Red Blood Cell", Université Claude Bernard Lyon 1, Lyon, France.
authors.forename: Céline
authors.initials: C
authors.lastname: Renoux
authors.affiliation: Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.
authors.forename: Arthur
authors.initials: A
authors.lastname: Dony
authors.affiliation: Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Cheikh
authors.affiliation: Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.
authors.forename: Cécile
authors.initials: C
authors.lastname: Renard
authors.affiliation: Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.
authors.forename: Antony
authors.initials: A
authors.lastname: Ceraulo
authors.affiliation: Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.
authors.forename: Daniela
authors.initials: D
authors.lastname: Cuzzubbo
authors.affiliation: Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.|Centre Hospitalier Intercommunal de Créteil, Université Paris Est Créteil, Créteil, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Pondarré
authors.affiliation: Laboratoire CRIS EA 647, Section "Vascular Biology and Red Blood Cell", Université Claude Bernard Lyon 1, Lyon, France.
authors.forename: Cyril
authors.initials: C
authors.lastname: Martin
authors.affiliation: Laboratoire CRIS EA 647, Section "Vascular Biology and Red Blood Cell", Université Claude Bernard Lyon 1, Lyon, France.|Institut Universitaire de France (IUF), Paris, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Pialoux
authors.affiliation: Unité de Pathologie Moléculaire du Globule Rouge, Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
authors.affiliation: Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.
authors.forename: Yves
authors.initials: Y
authors.lastname: Bertrand
authors.affiliation: Laboratoire CRIS EA 647, Section "Vascular Biology and Red Blood Cell", Université Claude Bernard Lyon 1, Lyon, France.|Institut Universitaire de France (IUF), Paris, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Connes
mesh_terms: D000755:Anemia, Sickle Cell / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D002561:Cerebrovascular Disorders / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006454:Hemoglobins / Q000378:metabolism; D006801:Humans; D008297:Male; D017701:Reticulocyte Count; D012156:Reticulocytes / Q000473:pathology; D012307:Risk Factors; D017585:Ultrasonography, Doppler, Transcranial; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000473:pathology
chemical_list: D006454:Hemoglobins
keywords: hemolysis; sickle cell disease; stroke; vasculopathy