hemoglobin C disease
(hē'mŏ-glō‵bĭn)
A mild, chronic hemolytic anemia, similar to sickle cell disease, that results from an abnormality in the amino acid structure of the hemoglobin molecule.
Incidence: The responsible gene is present in one or two of every 10,000 African-Americans.
Causes: It is caused by a genetic abnormality in the hemoglobin molecule inherited in autosomal recessive fashion.
Symptoms and Signs: Patients may develop anemia, with splenomegaly, arthralgias, a tendency to form gallstones, and abdominal pain. Angioid streaks may develop in the retina and compromise vision.
Diagnosis: Hemoglobin electrophoresis is used to diagnose hemoglobin C disease and other hemoglobinopathies. Blood smears in patients with hemoglobin C disease usually reveal an excess of target cells.
Impact on Health: Most hemoglobin C patients have normal longevity unless they carry one gene for hemoglobin C and another for hemoglobin S (sickle cell disease).
Patient Care: Because of the potential for complications from the disease, patients with hemoglobinopathies should have periodic check-ups, includinga retinal examination, assessment of symptoms of anemia (such as breathlessness on exertion, fatigue), and blood testing. Families with hemoglobinopathies may also want to consult with genetic counselors.