Sickle-Cell Disease and Stroke: Evidence-Based Neuroimaging

  • Jaroslaw Krejza
  • Michal Arkuszewski
  • Maciej Swiat
  • Maciej Tomaszewski
  • Elias R. Melhem
Reference work entry
Part of the Evidence-Based Imaging book series (Evidence-Based Imag.)


SCD is the family of recessively inherited disorders of hemoglobin (Hb) [1], which have developed in response to strong evolutionary selection by malaria [2, 3]. Sickle-cell anemia (SCA), the most severe form of SCD, refers specifically to homozygosity for the HbS (βS), a variant of the HbB gene (which encodes β-globin), whereas people who inherit only one sickle gene are sickle-cell carriers [4, 5]. HbS homozygotes suffer from SCD, but heterozygotes have a tenfold reduced risk of severe malaria [6, 7]. SCD also includes other variants of the HbB gene, namely, HbC and HbE [8–11] and regulatory defects of HbA and HbB, which cause α and ß thalassemia (Sß + or Sß0) [12–14]. The evolutionary pressure has risen to high frequencies of HbS allele in malaria-exposed populations despite the fatal consequences for homozygotes (HbSS) [2]. Different populations have developed independent evolutionary responses to malaria at both the global and the local levels [15]. The most striking example is the Hb gene, in which three different coding single nucleotide points confer protection against malaria: Glu6Val (HbS), Glu6Lys (HbC), and Glu26Lys (HbE) [3]. The HbS allele is common in Africa but rare in Southeast Asia, whereas the opposite is true for the HbE allele [3, 15]. At the local level, not only frequency of the HbC and HbS allele varies [8], but the frequency of their haplotypes also varies; for instance, the HbS allele is found in four distinct haplotypes in West Africa region [16–18].


Arterial Ischemic Stroke Soft Neurological Sign Cerebral Vascular Accident Acute Chest Syndrome Acute Chest Syndrome 
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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Jaroslaw Krejza
    • 1
    • 2
  • Michal Arkuszewski
    • 3
  • Maciej Swiat
    • 4
  • Maciej Tomaszewski
    • 5
  • Elias R. Melhem
    • 6
  1. 1.Department of RadiologyUniversity of Pennsylvania Health System, Perelman School of Medicine at the University of PennsylvaniaPhiladelphiaUSA
  2. 2.College of MedicineAl–Imam Mohamed bin Saud Islamic UniversityRiyadhSaudi Arabia
  3. 3.Department of NeurologyMedical University of Silesia, Central University HospitalKatowicePoland
  4. 4.Department of NeuroscienceUniversity Hospitals Conventry and WarwickshireCoventryUK
  5. 5.Department of RadiologyUniversity of PennsylvaniaPhiladelphiaUSA
  6. 6.Department of RadiologyUniversity of PennsylvaniaPhiladelphiaUSA

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