Hemoglobin Lepore syndrome

Hemoglobin Lepore syndrome is a rare blood disorder that affects the body's ability to produce normal hemoglobin, the protein in red blood cells that carries oxygen to the body's tissues. This condition is a type of beta thalassemia.

Causes

Hemoglobin Lepore syndrome is caused by a mutation in the HBB gene, which provides instructions for making a component of hemoglobin. This mutation results in the production of an abnormal version of beta-globin, one of the two types of globin proteins that make up hemoglobin. The abnormal beta-globin protein disrupts the normal balance of globin proteins, leading to a reduction in the amount of functional hemoglobin. As a result, red blood cells do not develop normally, leading to anemia in people with Hemoglobin Lepore syndrome.

Symptoms

The symptoms of Hemoglobin Lepore syndrome can vary, but they generally include fatigue, weakness, and pale skin. Some people may also have an enlarged spleen or liver, and severe cases can lead to life-threatening complications such as heart failure.

Diagnosis

Hemoglobin Lepore syndrome is typically diagnosed through a combination of blood tests, including a complete blood count (CBC) and a hemoglobin electrophoresis. Genetic testing may also be used to confirm the diagnosis.

Treatment

Treatment for Hemoglobin Lepore syndrome 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.

See also

• Hemoglobin
• Beta thalassemia
• Anemia
• Blood disorders

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