Sickle Cell Disease and the Hemoglobinopathies

Abstract

Disorders of hemoglobin, ``hemoglobinopathies'', are among the most common genetic disorders on earth. Sickle cell disease and alpha- and beta-thalassemia are the most common inherited hemoglobinopathies. The clinical phenotype of these hemolytic disorders are contingent on the number and type of mutations or deletions inherited. Both qualitative and quantitative disorders occur. Understanding the genetic basis for these disorders facilitates reproductive counseling, interpretation of hemoglobin electrophoresis, and complete blood counts and helps determine which systemic complications to anticipate, what therapies to offer and which treatment sequelae to anticipate. This chapter provides an overview of the epidemiology, pathophysiology, clinical complications and therapies for sickle cell disease and the thalassemias. Outcomes for patients affected by hemoglobinopathies are improving as our ability to treat and cure these disorders becomes more sophisticated.