Thalassaemia major

Thalassaemia Major is a severe form of anaemia caused by a genetic disorder that affects the body's ability to produce haemoglobin. This condition is also known as Cooley's anaemia.

Overview

Thalassaemia is a group of inherited blood disorders that affect the body's ability to produce haemoglobin and red blood cells. Thalassaemia Major is the most severe form of this disease. It is a chronic disease that requires regular blood transfusions and extensive ongoing medical care.

Causes

Thalassaemia Major is caused by mutations in the genes that control haemoglobin production. The disease is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene for a child to be affected.

Symptoms

Symptoms of Thalassaemia Major usually appear before a child's second birthday. They include fatigue, weakness, pale or yellowish skin, facial bone deformities, slow growth, abdominal swelling, and dark urine.

Diagnosis

Diagnosis of Thalassaemia Major typically involves blood tests, including a complete blood count (CBC) and special haemoglobin tests. Genetic testing can also be used to identify the disease and to determine if a person is a carrier of the disease.

Treatment

Treatment for Thalassaemia Major usually involves regular blood transfusions and chelation therapy to remove excess iron from the body. In some cases, a bone marrow transplant may be an option.

Prognosis

With proper treatment, individuals with Thalassaemia Major can lead a full life. However, the disease does require lifelong medical care and can lead to serious health problems, including heart disease, liver disease, and infections.

See also

• Thalassaemia
• Anaemia
• Haemoglobin
• Genetic disorder
• Blood transfusion
• Chelation therapy
• Bone marrow transplant