Table 1 Sickle cell disease
From: Advances in the diagnosis and treatment of sickle cell disease
Epidemiology | SCD affects primarily individuals of African or Afro-Caribbean descent 1 in 12 individuals are carriers for sickle cell trait 1 in 365 Black infants in the US are affected by SCD Approximately 100,000 individuals in the US and millions more worldwide have SCD |
Molecular basis and pathophysiology | Mutation is caused by single nucleotide substitution in the 6th codon of β-globin gene (HBB) Mutation results in production of sickle hemoglobin Common genotypes are homozygous SS disease (HbSS) and the compound heterozygous states HbSC, HbS/β0 and HbS/β+ thalassemia Mutation leads to reduced solubility of sickle hemoglobin and increased polymerization Pathophysiological contributors include red blood cell sickling, hemolysis, vaso-occlusion, cell adhesion, pro-inflammatory state, oxidative injury, endothelial dysfunction and hypercoagulability |
Major complications and disease burden | Acute pain and chronic pain syndrome Functional asplenia and infection Splenic sequestration Acute chest syndrome Cerebrovascular disease and stroke Neurocognitive deficits Retinopathy Priapism Chronic lung disease Pulmonary hypertension Skin ulcers Osteonecrosis Chronic kidney disease |