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Hemoglobin C disease: causes, symptoms, diagnosis, treatment
Last reviewed: 07.07.2025
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[ Pathogenesis
The hemoglobin molecule consists of polypeptide chains, the chemical structure of which is controlled by the corresponding genes. The normal adult hemoglobin molecule (HbA) consists of 2 pairs of chains. Normal blood also contains < 2.5% HbA (consisting of 5 chains). The level of fetal hemoglobin (HbF, containing y-chains instead of f-chains) gradually decreases, especially in the first month of life, to < 2% of the total adult hemoglobin. The concentration of HbF increases with certain disorders of hemoglobin synthesis, with aplastic anemia, myelodysplastic syndrome.
Some hemoglobinopathies are characterized by anemias that are more pronounced in homozygotes and less pronounced in heterozygotes. Some patients are heterozygotes for two anomalies and have anemia with features characteristic of both disorders.
Hb is differentiated by electrophoretic mobility and is designated alphabetically according to the order of its discovery (e.g., A, B, C), although the first abnormal hemoglobin was designated HbS. Structural differences in hemoglobin according to electrophoretic mobility are named after the city or locality in which they were discovered (e.g., HbS Memphis, HbC Harlem). When describing hemoglobin in a patient with a complex composition, the hemoglobin present in the greater concentration is named first.
In the United States, anemias with HbS, HbC, and thalassemia are most often detected in immigrants from Southeast Asia, who also have HbE.
Symptoms hemoglobin C diseases
Between 2% and 3% of blacks in the United States are asymptomatic. In the homozygous form, symptoms are similar to sickle cell disease but are less intense. However, abdominal crises, as in sickle cell disease, do not occur, and the spleen is usually enlarged. Sequestration of red blood cells in the spleen is possible.
Diagnostics hemoglobin C diseases
Hemoglobin C disease is suspected in all patients with a family history and in blacks with symptomatic sickle cell disease, especially in adults with splenomegaly. The anemia is usually mild but may be moderate. The anemia is usually normocytic with 30 to 100% target cells, occasionally crystalline red blood cells are found in the smear, and nucleated red blood cells may be detected. Sickle cells are not detected. Hemoglobin C is detected by electrophoresis. In the heterozygous form, only target cells are detected.
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Treatment hemoglobin C diseases
There is no specific treatment. Anemia is usually mild and blood transfusions are not required.