Hemoglobin C disease is a hemoglobinopathy that causes symptoms of a hemolytic anemia.
(See also Overview of Hemolytic Anemia.)
The prevalence of detectable hemoglobin (Hb) C in people in the US with African ancestry is about 2 to 3%. Patients who are heterozygotes are asymptomatic. Those who are homozygotes usually have a mild chronic hemolytic anemia, splenomegaly, and symptoms consistent with anemia. Cholelithiasis is the most common complication, and splenic sequestration is possible.
Hemoglobin C disease is suspected in all patients with a family history and evidence of a hemolytic anemia, particularly in adults with splenomegaly. The anemia is usually mild but can be severe.
The peripheral smear is microcytic, with frequent target cells, spherocytes, and, rarely, crystal-containing red blood cells (RBCs). Nucleated RBCs may be present. The RBCs do not sickle. On electrophoresis, the hemoglobin is type C. In heterozygotes, the only laboratory abnormality is centrally targeted RBCs.
No specific treatment is recommended. Anemia usually is not severe enough to require blood transfusion.
