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Hemoglobin C is formed by a single amino acid substitution at the same site as in sickle hemoglobin (codon 6 of the beta globin gene) but with lysine instead of valine substituted for glutamine. Hemoglobin C is nonsickling but may participate in polymer formation in association with hemoglobin S. Homozygous hemoglobin C disease produces a mild hemolytic anemia with splenomegaly, mild jaundice, and pigment (calcium bilirubinate) gallstones. The peripheral blood smear shows generalized red cell targeting and occasional cells with angular crystals of hemoglobin C (eFigure 13–15). Persons heterozygous for hemoglobin C are clinically normal.

eFigure 13–15.

Hemoglobin CC disease. (Peripheral blood, 50 ×.) Many red blood cells with crystalline central inclusions of polymerized C hemoglobin. Note that no sickled forms are present, as this is not a sickling disorder. (Used, with permission, from L Damon.)

Patients with hemoglobin SC disease are compound heterozygotes for betaS and betaC. These patients, like those with sickle beta+-thalassemia, have a milder hemolytic anemia and milder clinical course than those with homozygous SS disease and they live longer. There are fewer vaso-occlusive events, and the spleen remains palpable in adult life. However, persons with hemoglobin SC disease have more retinopathy and more priapism than those with SS disease. The hematocrit is usually 30–38%, with 5–10% reticulocytes, and compared to SS, fewer irreversibly sickled cells on the blood smear. Target cells are more numerous than in SS disease. Hemoglobin electrophoresis will show approximately 45–50% hemoglobin C, 50% hemoglobin S, and no increase in hemoglobin F levels.

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Mangano  VD  et al; MalariaGEN Consortium. Novel insights into the protective role of hemoglobin S and C against Plasmodium falciparum parasitemia. J Infect Dis. 2015 Aug 15;212(4):626–34.
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Pecker  LH  et al. Knowledge insufficient: the management of haemoglobin SC disease. Br J Haematol. 2017 Feb;176 (4):515–26.
[PubMed: 27982424]

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