Differences in the clinical and genotypic presentation of sickle cell disease around the world

Santosh L. Saraf, Robert E. Molokie, Mehdi Nouraie, Craig A. Sable, Lori Luchtman-Jones, Gregory J. Ensing, Andrew D. Campbell, Sohail R. Rana, Xiao M. Niu, Roberto F. Machado, Mark T. Gladwin, Victor R. Gordeuk

Research output: Contribution to journalReview article

25 Scopus citations

Abstract

Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions. Cardiopulmonary complications are major causes of morbidity and mortality. Hemoglobin SS (Hb SS) represents a large proportion of SCD in the Americas, United Kingdom, and certain regions of Africa while higher proportions of hemoglobin SC are observed in Burkina Faso and hemoglobin Sβ-thalassemia in Greece and India. Coinheritance of α-thalassemia and persistence of hemoglobin F production are observed in highest frequency in certain regions of India and the Middle East. As confirmed in the PUSH and Walk-PHaSST studies, Hb SS, absence of co-inheriting alpha-thalassemia, and low hemoglobin F levels tend to be associated with more hemolysis, lower hemoglobin oxygen saturations, greater proportions of elevated tricuspid regurgitant jet velocity and brain natriuretic peptide, and increased left ventricular mass index. Identification of additional genetic modifiers will improve prediction of cardiopulmonary complications in SCD.

Original languageEnglish (US)
Pages (from-to)4-12
Number of pages9
JournalPaediatric Respiratory Reviews
Volume15
Issue number1
DOIs
StatePublished - Mar 1 2014

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Keywords

  • Alpha thalassemia
  • Echocardiogram
  • Hemoglobin F
  • Pulmonary Function Test
  • Sickle Cell Disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

Cite this

Saraf, S. L., Molokie, R. E., Nouraie, M., Sable, C. A., Luchtman-Jones, L., Ensing, G. J., Campbell, A. D., Rana, S. R., Niu, X. M., Machado, R. F., Gladwin, M. T., & Gordeuk, V. R. (2014). Differences in the clinical and genotypic presentation of sickle cell disease around the world. Paediatric Respiratory Reviews, 15(1), 4-12. https://doi.org/10.1016/j.prrv.2013.11.003