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Hemoglobin C Disease

By

Evan M. Braunstein

, MD, PhD, Johns Hopkins University School of Medicine

Last full review/revision Sep 2020
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The prevalence of hemoglobin (Hb) C in blacks in the US is about 2 to 3%. Heterozygotes are asymptomatic. Homozyotes usually have a mild chronic hemolytic anemia, splenomegaly, and symptoms consistent with anemia. Cholelithiasis Cholelithiasis Cholelithiasis is the presence of one or more calculi (gallstones) in the gallbladder. In developed countries, about 10% of adults and 20% of people > 65 years have gallstones. Gallstones tend... read more 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.

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