Sickle Cell Disease

Sickle Cell Disease is a topic covered in the Select 5-Minute Pediatrics Topics.

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Basics

Description

Sickle cell disease (SCD) is a hemoglobinopathy caused by a one base pair change leading to an amino acid change in the beta globin gene at the sixth position: glutamic acid to valine. The mutation allows the polymerization of hemoglobin in the red cell.

Pathophysiology

  • Disruption of the red cell membrane: leading to increased adhesion to vascular endothelium, activation of cytokines leading to activation of platelets and leukocytes, activation of the coagulation system leading to a hypercoagulable state and ultimately to vaso-occlusion. Red cells release red cell membrane as microparticles.
  • Red cell hemolysis: release of free hemoglobin, methemoglobin production, increased plasma ferric iron leading to oxidative stress, decreased nitric oxide leading to decreased production of cyclic GMP causing vasoconstriction, inflammation, and platelet activation

Epidemiology

  • The incidence of SCD is 1 in 500 African Americans, 1 in 36,000 Hispanics, with a lesser frequency in other ethnic groups. The incidence of sickle cell trait in African Americans is 1 in 14.
  • There are 70,000–100,000 affected individuals with SCD in the United States.

Risk Factors

Genetics

  • SCD is autosomal recessive.
  • Combinations leading to the disease state when inherited with hemoglobin S: SS, SC, S beta zero thalassemia, S beta plus thalassemia, S DLos Angeles, and S OArab are examples.

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Basics

Description

Sickle cell disease (SCD) is a hemoglobinopathy caused by a one base pair change leading to an amino acid change in the beta globin gene at the sixth position: glutamic acid to valine. The mutation allows the polymerization of hemoglobin in the red cell.

Pathophysiology

  • Disruption of the red cell membrane: leading to increased adhesion to vascular endothelium, activation of cytokines leading to activation of platelets and leukocytes, activation of the coagulation system leading to a hypercoagulable state and ultimately to vaso-occlusion. Red cells release red cell membrane as microparticles.
  • Red cell hemolysis: release of free hemoglobin, methemoglobin production, increased plasma ferric iron leading to oxidative stress, decreased nitric oxide leading to decreased production of cyclic GMP causing vasoconstriction, inflammation, and platelet activation

Epidemiology

  • The incidence of SCD is 1 in 500 African Americans, 1 in 36,000 Hispanics, with a lesser frequency in other ethnic groups. The incidence of sickle cell trait in African Americans is 1 in 14.
  • There are 70,000–100,000 affected individuals with SCD in the United States.

Risk Factors

Genetics

  • SCD is autosomal recessive.
  • Combinations leading to the disease state when inherited with hemoglobin S: SS, SC, S beta zero thalassemia, S beta plus thalassemia, S DLos Angeles, and S OArab are examples.

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