What is the presentation of hemoglobin C (HbSC) disease?

Updated: May 12, 2021
  • Author: Joseph E Maakaron, MD; Chief Editor: Emmanuel C Besa, MD  more...
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HbSC disease is a milder sickling disorder. It is present in 1 in 1100 African Americans. In the HbC mutation, lysine replaces glutamic acid in position 6 on the beta chain. HbA is not present. The RBCs contain 50% HbS and 50% HbC. Anemia is much milder, with Hb levels of 11 g/dL or higher.

Symptoms of HbSC disease are similar to SCD but less frequent and less severe. Splenomegaly often persists well into adult life. Aseptic necrosis of the femoral head is not more common than in SCD. A proliferative retinopathy may lead to progressive loss of vision.

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