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Hemoglobin Sβ Thalassemia, SC Disease and SD Disease: Clinical and Laboratorial Aspects

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Sickle Cell Anemia

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Abstract

Sickle cell disorders are inherited hemolytic anemias, associated with the presence of Hemoglobin S. This group of disorders comprises homozygotes (HbSS), compound heterozygotes for hemoglobin C (HbSC) or β-thalassemia (Sβ thalassemia) (the most frequent associations) and, uncommonly, hemoglobin D (HbSD) and hemoglobin E (HbSE). This abnormal phenotype is caused by mutations in the Beta globin genes of both chromosomes 11. Thus, these disorders are recessively inherited and abnormalities in both alleles lead to structural defects in the beta-globin chain (HbS, HbC, HbD, HbE), or a reduction in its expression (thalassemia and HbE). Consequently, normal HbA, which is an α2β2 tetramer, is absent and substituted by the mutated hemoglobins, containing an α2β2 Mutated tetramer. Ultimately, the clinical phenotype is caused by the relatively high amounts of the α2β2 sickle tetramer, which allows hemoglobin polymerization and, in turn, leads to vasoocclusion, the hallmark of all sickle cell disorders. In this chapter, we will discuss clinical and laboratorial aspects of the compound sickle cell disorders SC, SD and Sβ thalassemia. In this book, sickle cell anemia is a synonymous for the homozygote state and it is approached elsewhere.

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Authors and Affiliations

  1. Hematology Center, School of Medical Sciences, University of Campinas/Hemocentro-Unicamp, Rua Carlos Chagas, 480, Cidade Universitaria Zeferino Vaz, 13083-878, Campinas, São Paulo, Brazil

    Sara T. Olalla Saad & Simone O. Gilli

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  1. Sara T. Olalla Saad
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  2. Simone O. Gilli
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Correspondence to Sara T. Olalla Saad .

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Editors and Affiliations

  1. Centro de Hematologia e Hemoterapia, Unicamp, Campinas, São Paulo, Brazil

    Fernando Ferreira Costa

  2. Centro de Hematologia e Hemoterapia, Unicamp, Campinas, São Paulo, Brazil

    Nicola Conran

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Saad, S.T.O., Gilli, S.O. (2016). Hemoglobin Sβ Thalassemia, SC Disease and SD Disease: Clinical and Laboratorial Aspects. In: Costa, F., Conran, N. (eds) Sickle Cell Anemia. Springer, Cham. https://doi.org/10.1007/978-3-319-06713-1_13

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  • DOI: https://doi.org/10.1007/978-3-319-06713-1_13

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-06712-4

  • Online ISBN: 978-3-319-06713-1

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