Clinical features of β-thalassemia and sickle cell disease

Patrick T. McGann, Alecia C. Nero, Russell E. Ware

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations

Abstract

Sickle cell disease (SCD) and β-thalassemia are among the most common inherited diseases, affecting millions of persons globally. It is estimated that 5–7% of the world’s population is a carrier of a significant hemoglobin variant. Without early diagnosis followed by initiation of preventative and therapeutic care, both SCD and β-thalassemia result in significant morbidity and early mortality. Despite great strides in the understanding of the molecular basis and pathophysiology of these conditions, the burden of disease remains high, particularly in limited resource settings. Current therapy relies heavily upon the availability and safety of erythrocyte transfusions to treat acute and chronic complications of these conditions, but frequent transfusions results in significant iron overload, as well as challenges from acquired infections and alloimmunization. Hydroxyurea is a highly effective treatment for SCD but less so for β-thalassemia, and does not represent curative therapy. As technology and use of cellular and gene therapies expand, SCD and thalassemia should be among the highest disease priorities.

Original languageEnglish (US)
Title of host publicationAdvances in Experimental Medicine and Biology
PublisherSpringer New York LLC
Pages1-26
Number of pages26
DOIs
StatePublished - Jan 1 2017

Publication series

NameAdvances in Experimental Medicine and Biology
Volume1013
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019

Keywords

  • Beta globin
  • Hemoglobin
  • Iron overload
  • Sickle cell disease
  • β-thalassemia

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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  • Cite this

    McGann, P. T., Nero, A. C., & Ware, R. E. (2017). Clinical features of β-thalassemia and sickle cell disease. In Advances in Experimental Medicine and Biology (pp. 1-26). (Advances in Experimental Medicine and Biology; Vol. 1013). Springer New York LLC. https://doi.org/10.1007/978-1-4939-7299-9_1