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. Symptoms usually develop in early adulthood. They may include mild anemia, enlarged spleen, reduced blood flow to the joints, and painful episodes due to blocked blood vessels. Many people with this condition have no symptoms. HbSE is caused by genetic changes (DNA variants) in the HBB gene that cause it to not work correctly. It is inherited in an autosomal recessive pattern. This condition is diagnosed based on a clinical exam, the symptoms, and through blood tests that look for specific types of hemoglobin. Genetic testing may also be helpful. Many people with HbSE do not need treatment, while others need management of their specific symptoms.

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.

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.

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.

Specialists who may be involved in the care of someone with hemoglobin SE disease include:

• Hematologist
• Medical geneticist

The exact number of people with hemoglobin SE disease is unknown. In some parts of the world, it is fairly common. In certain parts in the middle east, for example, the prevalence is about 0.05%.