Hemoglobin Lepore syndrome

Hemoglobin Lepore Syndrome

Hemoglobin Lepore Syndrome (pronunciation: hee-muh-gloh-bin leh-por sin-drohm) is a rare genetic disorder characterized by the production of an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The condition is named after the scientist who first identified it, Professor Bruno Lepore.

Etymology

The term "Hemoglobin Lepore Syndrome" is derived from the name of the scientist who discovered the condition, Professor Bruno Lepore, and the Greek word "haima" (blood) and "globus" (sphere), referring to the red blood cells where hemoglobin is found.

Symptoms

People with Hemoglobin Lepore Syndrome may have mild to moderate anemia, a condition that can cause fatigue and weakness. Other symptoms may include jaundice, an enlarged spleen (splenomegaly), and gallstones (cholelithiasis).

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 form of hemoglobin known as hemoglobin Lepore.

Diagnosis

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

Treatment

Treatment for Hemoglobin Lepore Syndrome is typically focused on managing symptoms. This may include regular blood transfusions to treat anemia, and medications to manage other symptoms. In some cases, a splenectomy (removal of the spleen) may be recommended.

Related Terms

• Hemoglobin
• Anemia
• Genetic disorder
• Splenomegaly
• Cholelithiasis
• HBB gene
• CBC
• Splenectomy

External links

• Medical encyclopedia article on Hemoglobin Lepore syndrome
• Wikipedia's article - Hemoglobin Lepore syndrome

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