What is Hemoglobin E Disease

Hemoglobin-C, -S-C, and -E diseases

Of

Evan M. Braunstein

, MD, PhD, Johns Hopkins School of Medicine

Last full review / revision Sep 2020
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Hemoglobin C, Hemoglobin SC, and Hemoglobin E diseases are hereditary diseases that mark a gene mutation that affects a protein called hemoglobin (which carries oxygen) in red blood cells, causing cells to look unusual accept and clump. These red blood cells are destroyed faster than others, leading to chronic anemia.

Hemoglobin C Disease

Hemoglobin C disease occurs primarily in people of African American origin. A copy of the gene that causes hemoglobin C disease occurs in 2 to 3 percent of all people of African American descent in the United States. However, one must inherit two copies of this gene for the disease to break out.

In general, the symptoms are few. The severity of the anemia also varies. Affected children, in particular, can have abdominal and joint pain, an enlarged spleen and mild jaundice, but there are no serious crises, as in sickle cell anemia.

Gallstones are a common complication of hemoglobin C disease.

Hemoglobin S-C Disease

Hemoglobin S-C disease occurs in people who have one copy of the sickle cell disease gene and one copy of the hemoglobin C disease gene. Hemoglobin S-C disease is much more common than hemoglobin C disease, and its symptoms are similar to sickle cell anemia, but much milder. Patients may have blood in their urine, an enlarged spleen, bleeding from the back of the eye (retinal haemorrhage), and damage to the hip joint.

Hemoglobin E Disease

Hemoglobin E disease primarily affects people from Southeast Asia. It causes mild anemia, but none of the other symptoms associated with sickle cell anemia and hemoglobin C disease.

diagnosis

  • Hemoglobin electrophoresis

Blood tests are done to diagnose hemoglobin-C, hemoglobin-S-C, and hemoglobin-E diseases. Doctors examine a blood sample under a microscope Red blood cells have a variety of unusual shapes and other abnormalities can be seen in the blood samples in people who have it.

Another blood test called hemoglobin electrophoresis will also be done. Electrophoresis uses electricity to separate the different types of hemoglobin from one another to identify the altered hemoglobin.

treatment

  • Occasionally blood transfusions

Treatment will depend on the symptoms and their severity. Some people do not need treatment.

In rare cases, patients with hemoglobin C disease may need blood transfusions.

When hemoglobin S-C disease needs treatment, it is similar to treating sickle cell anemia.

Most patients with hemoglobin E disease do not require treatment. However, people with severe disease may need regular blood transfusions or have their spleen removed.

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