HbH

Hemoglobin H disease (also known as HbH disease) is a form of alpha thalassemia characterized by the production of an abnormal form of hemoglobin, known as hemoglobin H (HbH). This condition is caused by the deletion or mutation of three of the four alpha globin genes that are responsible for the production of hemoglobin.

Causes

HbH disease is caused by mutations in the HBA1 and HBA2 genes. These genes provide instructions for making a protein called alpha globin, which is a component of hemoglobin. In people with HbH disease, three of the four genes that produce alpha globin are missing or changed. This results in a reduction in the amount of functional hemoglobin, leading to the signs and symptoms of HbH disease.

Symptoms

The symptoms of HbH disease can vary widely among affected individuals. They can range from mild to severe and can include anemia, jaundice, splenomegaly (enlarged spleen), and gallstones. In severe cases, individuals may have skeletal deformities and delayed growth and development.

Diagnosis

HbH disease is typically diagnosed through blood tests that measure the amount and type of hemoglobin in the blood. Genetic testing can also be used to identify mutations in the HBA1 and HBA2 genes.

Treatment

Treatment for HbH disease is aimed at managing the symptoms and preventing complications. This can include regular blood transfusions, iron chelation therapy to remove excess iron from the body, and in severe cases, a bone marrow transplant.

See also

• Alpha thalassemia
• Beta thalassemia
• Hemoglobin

References

HbH Resources
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