Hemoglobin H disease

Hemoglobin H disease is a form of alpha thalassemia, a genetic blood disorder that affects the production of hemoglobin. Hemoglobin is the protein in red blood cells responsible for carrying oxygen throughout the body. Hemoglobin H disease is characterized by the presence of an abnormal form of hemoglobin known as hemoglobin H (HbH).

Pathophysiology

Hemoglobin H disease occurs due to the deletion or mutation of three out of the four alpha-globin genes. The alpha-globin genes are responsible for producing the alpha-globin chains that form part of the hemoglobin molecule. In individuals with Hemoglobin H disease, the lack of sufficient alpha-globin chains leads to the formation of abnormal hemoglobin composed of beta-globin chains, known as hemoglobin H.

Symptoms

The symptoms of Hemoglobin H disease can vary widely but often include:

• Anemia
• Jaundice
• Splenomegaly (enlarged spleen)
• Hepatomegaly (enlarged liver)
• Fatigue
• Pallor

Diagnosis

Diagnosis of Hemoglobin H disease typically involves:

• Complete blood count (CBC)
• Hemoglobin electrophoresis
• Genetic testing to identify mutations in the alpha-globin genes

Treatment

There is no cure for Hemoglobin H disease, but treatment focuses on managing symptoms and preventing complications. Treatment options may include:

• Blood transfusions
• Folic acid supplements
• Iron chelation therapy to prevent iron overload
• Splenectomy in severe cases

Prognosis

The prognosis for individuals with Hemoglobin H disease varies. Some individuals may experience mild symptoms, while others may have more severe complications. Regular medical follow-up and appropriate management can help improve the quality of life for affected individuals.

Related Pages

• Thalassemia
• Hemoglobin
• Anemia
• Genetic testing
• Blood transfusion