Hemoglobin barts

Hemoglobin Barts is a form of hemoglobin that is produced in the fetus and newborns. It is named after St Bartholomew's Hospital in London, where it was first discovered. Hemoglobin Barts is abnormal and does not function properly, leading to a condition known as alpha thalassemia.

Overview

Hemoglobin is a protein in red blood cells that carries oxygen from the lungs to the body's tissues and returns carbon dioxide from the tissues back to the lungs. Hemoglobin Barts is an abnormal form of this protein that is produced when there is a mutation in the genes that code for the alpha chains of the hemoglobin molecule.

Causes

Hemoglobin Barts is caused by a mutation in the HBA1 or HBA2 genes. These genes provide instructions for making a component of hemoglobin called the alpha globin chain. In people with hemoglobin Barts, four copies of these genes are mutated, leading to a severe shortage of alpha globin chains. This shortage prevents the normal formation of hemoglobin, leading to the production of Hemoglobin Barts.

Symptoms

The symptoms of Hemoglobin Barts can vary widely, ranging from mild to severe. They can include anemia, jaundice, enlarged spleen, and growth retardation. In severe cases, it can cause hydrops fetalis, a serious condition in which fluid accumulates in parts of the fetus's body, causing tissue swelling.

Diagnosis

Hemoglobin Barts can be diagnosed through a blood test that measures the amount of different types of hemoglobin in the blood. Genetic testing can also be used to identify mutations in the HBA1 or HBA2 genes.

Treatment

There is currently no cure for Hemoglobin Barts. Treatment is aimed at managing 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

• Hemoglobin
• Alpha thalassemia
• HBA1
• HBA2

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