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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.

hemoglobin E disease

(hē′mŏ-glō″bĭn) A mild form of hemolytic anemia caused by a genetic variant of the hemoglobin molecule.

 INCIDENCE: It is found primarily in people of Southeast Asian origin, in whom it is thought to provide protection against falciparum malaria.

 CAUSES: It is an autosomal recessively inherited genetic disease affecting the structure of the beta globin molecule.

 SYMPTOMS AND SIGNS: Patients may develop symptoms or signs related to mild anemia (such as breathlessness on exertion or easy fatigue). Many patients develop an enlarged spleen resulting from red blood cell destruction.

 DIAGNOSIS: Most affected patients are detected during newborn screening programs for hemoglobinopathies, which include assessments of the size and volume of red blood cells (reduced in hemoglobin E disease), and hemoglobin electrophoresis.

 PREVENTION: Patients with hemoglobinopathies may want to consult with genetic counselors to assist with family planning decisions.

 TREATMENT: Patients are treated with folic acid to replenish red blood cells and treat anemia, similar to treatment of other patients with a hemoglobinopathy.

 IMPACT ON HEALTH: The long-term outlook for hemoglobin E disease is good. The disease does not reduce life expectancy.


(hē″mō-glō-bĭn-ē′mē-ă) [Gr. haima, blood, + L. globus, globe, + Gr. haima, blood] The presence of hemoglobin in the blood plasma.

hemoglobin H disease


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