Hemoglobin H Disease
What is Hemoglobin H Disease?
People with hemoglobin H disease have only one working gene for alpha globin. They make less than the usual amount of alpha globin chains. Because of this the hemoglobin that they make is more unstable, causing the red blood cells to break down more quickly. The result is fewer red blood cells, a condition called anemia. Many people with hemoglobin H disease do not have serious health problems. However, since this disease affects a person’s hemoglobin, they often have mild to moderate anemia which can cause them to be more tired. Sometimes, viral infections or fever can make the anemia worse. Certain medications, moth balls, and fava beans, if eaten by someone with this disease can also cause severe anemia. Sometimes the anemia can get worse and lead to other problems. However, these are rare except for people with hemoglobin H-Constant Spring disease, which is a more severe form of this disorder and can cause more severe anemia.
What is Hemoglobin H-Constant Spring Disease?
Hemoglobin H-Constant Spring disease produces a longer than usual alpha globin chain. This causes the hemoglobin to be even more unstable than in hemoglobin H disease. This causes the red blood cells to break down faster than usual so there are less red blood cells in the body. This results in a more severe anemia. Other complications often include an enlarged spleen, gallstones, increased risk for infections, jaundice (yellow skin or eyes due to pigment from the breakdown of the red blood cells), and leg ulcers (slow-healing wounds on the lower leg and ankle).
In California the incidence of hemoglobin H disease (including Hemoglobin H-Constant Spring) is about 1 in 15,000 births, or about 35-40 cases per year.
What is the Treatment for Hemoglobin H Disease?
The child’s doctor or blood specialist should be notified whenever the child becomes ill, so any infection can be promptly treated. If the anemia becomes severe, the child may need a blood transfusion. The doctor will discuss which medications to avoid. An extra vitamin called folic acid may be given to the child. Parents should not have mothballs or fava beans in the home. The blood specialist will discuss how to care for the child, and what symptoms of severe anemia to watch for. Most people with hemoglobin H disease can lead relatively normal lives with proper treatment.
Parents' Guide to Hemoglobin H - English (PDF) ...Laotian (PDF)