Sickle cell intrahepatic cholestasis (SCIC) is a rare complication seen in sickle cell patients who present with sudden onset of RUQ pain, progressive hepatomegaly, mild elevation of transaminases, coagulopathy, and extreme hyperbilirubinemia. Early recognition of this entity is essential to avoid life-threatening complications. Diagnosis can be challenging given the overlap in clinical presentation with other conditions affecting the hepatobiliary biliary system in sickle cell anemia such as hepatitis, cholecystitis, and hepatic crisis. Treatment is currently limited to exchange transfusion. The authors present two patients with SCIC and cholelithiasis; the clinical picture of one is complicated by choledocholithiasis.

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The increasing availability of DNA sequencing of globin genes has improved our ability to detect conditions that were presumed to be extremely rare. These conditions may remain undiagnosed due to unfamiliarity with clinical presentation, relative unavailability of advanced diagnostic alternatives, or may defy detection by being electrophoretically silent or extreme instability rendering their presence to be below detection level. Genetic studies were pursued in a mother and daughter with severe hemolytic anemia as initial testing failed to be diagnostic. DNA sequence analysis of the β-globin gene identified Hb Manukau [β67(E11)Val → Gly; HBB: c.203T > G], an extremely unstable hemoglobin (Hb) variant. This is the second family described with this condition (first in the western hemisphere). An astute clinician may benefit from being persistent and pursuing additional testing including molecular genetic characterization where clinical suspicion remains high.

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