Sickle Cell Hepatopathy

Excerpt

Sickle cell disease (SCD) is a hemoglobinopathy characterized by mutation of the beta-globin chain caused by glutamic acid substituted by valine in the sixth codon, which results in the formation of the mutant sickle cell hemoglobin (HbS) allele ßs. This substitution decreases the solubility of the HbS when deoxygenated, causing sickle erythrocytes that cause intravascular occlusion leading to both acute and chronic complications. Acute complications commonly include acute chest syndrome (ACS), strokes, acute anemia, hepatic crisis, acute cholecystitis, and priapism. Chronic complications include chronic kidney disease (CKD), cholelithiasis, viral hepatitis, pulmonary hypertension, avascular necrosis, and thrombosis, to name a few.

Heterozygous individuals for the ßs allele carry the sickle cell trait (HbAS) and do not have SCD. However, individuals who are homozygous for the ßs allele have sickle cell anemia (SCA). The HbS gene is found in African countries, India, the Caribbean, and Central and South America. In the United States, one in every 360 African American newborns has SCD.

Sickle cell hepatopathy (SCH) is an all-encompassing term including acute processes related to sickling causing an acute hepatic crisis, acute intrahepatic cholestasis, acute hepatic sequestration, chronic liver disease, including chronic cholestasis, as well as complications of multiple transfusions including viral hepatitis and iron overload.