• Mathula Thangarajh, Genyan Yang, Dana Fuchs, Maria R Ponisio, Robert C McKinstry, Alok Jaju, Michael J Noetzel, James F Casella, Emily Barron-Casella, W Craig Hooper, Sheree L Boulet, Christopher J Bean, Meredith E Pyle, Amanda B Payne, Jennifer Driggers, Heidi A Trau, Bruce A Vendt, Mark Rodeghier, and Michael R DeBaun.
• Department of Neurology and Pediatrics, Washington University School of Medicine, Saint Louis, MO, USA.
• Br. J. Haematol. 2012 Nov 1; 159 (3): 352-9.

AbstractSilent cerebral infarct (SCI) is the most commonly recognized cause of neurological injury in sickle cell anaemia (SCA). We tested the hypothesis that magnetic resonance angiography (MRA)-defined vasculopathy is associated with SCI. Furthermore, we examined genetic variations in glucose-6-phosphate dehydrogenase (G6PD) and HBA (α-globin) genes to determine their association with intracranial vasculopathy in children with SCA. Magnetic resonance imaging (MRI) of the brain and MRA of the cerebral vasculature were available in 516 paediatric patients with SCA, enrolled in the Silent Infarct Transfusion (SIT) Trial. All patients were screened for G6PD mutations and HBA deletions. SCI were present in 41·5% (214 of 516) of SIT Trial children. The frequency of intracranial vasculopathy with and without SCI was 15·9% and 6·3%, respectively (P < 0·001). Using a multivariable logistic regression model, only the presence of a SCI was associated with increased odds of vasculopathy (P = 0·0007, odds ratio (OR) 2·84; 95% Confidence Interval (CI) = 1·55-5·21). Among male children with SCA, G6PD status was associated with vasculopathy (P = 0·04, OR 2·78; 95% CI = 1·04-7·42), while no significant association was noted for HBA deletions. Intracranial vasculopathy was observed in a minority of children with SCA, and when present, was associated with G6PD status in males and SCI.© 2012 Blackwell Publishing Ltd.

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