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G 6 PD deficiency and absence of α‐thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia
Author(s) -
Joly Philippe,
Garnier Nathalie,
Kebaili Kamila,
Renoux Céline,
Dony Arthur,
Cheikh Nathalie,
Renard Cécile,
Ceraulo Antony,
Cuzzubbo Daniela,
Pondarré Corinne,
Martin Cyril,
Pialoux Vincent,
Francina Alain,
Bertrand Yves,
Connes Philippe
Publication year - 2016
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.12607
Subject(s) - transcranial doppler , medicine , sickle cell anemia , stroke (engine) , pathophysiology , thalassemia , hemoglobinopathy , pediatrics , anemia , cardiology , gastroenterology , hemolytic anemia , disease , mechanical engineering , engineering
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 D oppler ( n = 5). Eighty‐four patients had neither positive history of stroke or silent infarct, nor abnormal transcranial D oppler ( NORM group). An intermediate group ( COND ; n = 15) was composed of SCA children with a conditional transcranial D oppler. 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 G 6 PD deficiency in the VASC group compared with the other groups. Our study confirms the key role of α‐thalassemia and G 6 PD status in the pathophysiology of cerebral vasculopathy in SCA children.