Hemoglobin SE disease

Other Names: HbSE disease; Sickle cell - hemoglobin E disease; Sickle cell-hemoglobin E disease syndrome Hemoglobin SE disease (HbSE) is an inherited condition affecting the part of the blood that carries oxygen known as hemoglobin. People with HbSE have hemoglobin that doesn't work efficiently.

Cause

Hemoglobin SE disease is due to two copies of a HBB gene that are not working correctly.Genetic changes known as DNA variants can impact how genes work. Pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessivepattern.

Symptoms

The following list includes the most common signs and symptoms in people with hemoglobin SE disease. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms may include:

• Anemia
• Reduced blood flow to the hip and shoulder (avascular necrosis)
• Enlarged spleen
• Breathing problems and chest pain (acute chest syndrome)
• Pain episodes caused by small blocked blood vessels
• Many people with Hemoglobin SE disease have no symptoms. Some people will develop symptoms starting in late childhood or early adulthood. Some of these medical complications, especially acute chest syndrome can be serious.

Diagnosis

Hemoglobin SE disease is diagnosed based on a clinical exam, the symptoms and the results of blood tests looking for abnormal hemoglobin. Genetic testing may also be helpful. Some states in the US screen for hemoglobin diseases on the newborn screen.

Treatment

There is no specific treatment for hemoglobin SE disease. Treatment is based on managing the symptoms. Many people with this condition do not require treatment.

NIH genetic and rare disease info

• NIH info on Hemoglobin SE disease

Hemoglobin SE disease is a rare disease.

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