Magnetic resonance angiography-defined intracranial vasculopathy is associated with silent cerebral infarcts and glucose-6-phosphate dehydrogenase mutation in children with sickle cell anaemia

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, Michael R. Debaun*

*Corresponding author for this work

Research output: Contribution to journalArticle

44 Scopus citations

Abstract

Silent 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.

Original languageEnglish (US)
Pages (from-to)352-359
Number of pages8
JournalBritish Journal of Haematology
Volume159
Issue number3
DOIs
StatePublished - Nov 2012

Keywords

  • Glucose-6-phosphate dehydrogenase
  • Sickle cell anaemia
  • Silent cerebral infarcts
  • Vasculopathy
  • α-thalassaemia

ASJC Scopus subject areas

  • Hematology

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    Thangarajh, M., Yang, G., Fuchs, D., Ponisio, M. R., Mckinstry, R. C., Jaju, A., Noetzel, M. J., Casella, J. F., Barron-Casella, E., Hooper, W. C., Boulet, S. L., Bean, C. J., Pyle, M. E., Payne, A. B., Driggers, J., Trau, H. A., Vendt, B. A., Rodeghier, M., & Debaun, M. R. (2012). Magnetic resonance angiography-defined intracranial vasculopathy is associated with silent cerebral infarcts and glucose-6-phosphate dehydrogenase mutation in children with sickle cell anaemia. British Journal of Haematology, 159(3), 352-359. https://doi.org/10.1111/bjh.12034