Hemoglobin H disease

Hemoglobin H disease (pronounced: hee-muh-gloh-bin H dih-zeez) is a type of alpha thalassemia that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body.

Etymology

The term "Hemoglobin H" is derived from the Greek word "haima" meaning "blood", and the English letter "H", which stands for "Hydrops fetalis", a condition that was originally associated with the disease.

Definition

Hemoglobin H disease is a condition that affects the production of normal hemoglobin. It is caused by a mutation in the HBA1 or HBA2 genes, which provide instructions for making a component of hemoglobin called the alpha globin chain. In people with Hemoglobin H disease, three of the four genes that produce the alpha globin chain are mutated or missing, leading to a decrease in the amount of functional hemoglobin.

Symptoms

The symptoms of Hemoglobin H disease can vary widely, from mild to severe. They may include fatigue, pale skin, shortness of breath, rapid heart rate, enlarged spleen, and jaundice.

Diagnosis

Hemoglobin H disease is diagnosed through a series of blood tests, including a complete blood count (CBC), hemoglobin electrophoresis, and genetic testing.

Treatment

Treatment for Hemoglobin H disease typically involves managing the symptoms and preventing complications. This may include regular blood transfusions, iron chelation therapy to remove excess iron from the body, and in severe cases, a bone marrow transplant.

Related Terms

External links

Medical encyclopedia article on Hemoglobin H disease
Wikipedia's article - Hemoglobin H disease

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