What is HbH disease?

Hemoglobin H disease (HbH disease) is a rare inherited blood disorder caused by a mutation in the beta-globin gene. It results in the formation of an abnormal hemoglobin called hemoglobin H (HbH), which has a reduced ability to carry oxygen compared to normal hemoglobin. This leads to a mild form of chronic anemia.

Symptoms of HbH disease can include:

- Mild anemia, characterized by fatigue, weakness, pale skin, and shortness of breath

- Enlarged spleen (splenomegaly)

- Jaundice, a yellowing of the skin and eyes due to the breakdown of red blood cells

Treatment for HbH disease is typically supportive and may include:

- Blood transfusions to increase red blood cell levels

- Iron supplements to help the body produce more red blood cells

- Folic acid supplements to help the body produce healthy red blood cells

- Splenectomy (surgical removal of the spleen) in cases of severe anemia or splenomegaly

HbH disease is usually a lifelong condition, but it is generally mild and does not significantly affect the lifespan or quality of life of affected individuals.