Thalassemia major

Thalassemia Major is a severe form of anemia caused by a genetic disorder that affects the body's ability to produce hemoglobin, the protein in red blood cells that carries oxygen to the body's tissues.

Overview

Thalassemia Major, also known as Cooley's Anemia, is a type of thalassemia that is inherited in an autosomal recessive manner. This means that both parents must be carriers of the disease for a child to be affected.

Symptoms

The symptoms of Thalassemia Major typically appear before a child's second birthday and may include fatigue, weakness, pale or yellowish skin, facial bone deformities, slow growth, abdominal swelling, and dark urine.

Diagnosis

Thalassemia Major is typically diagnosed through a blood test that measures the amount of hemoglobin and the size of the red blood cells. A DNA test can also be used to confirm the diagnosis and to identify carriers of the disease.

Treatment

The treatment for Thalassemia Major typically involves regular blood transfusions and iron 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 Thalassemia Major can lead a normal life. However, without treatment, Thalassemia Major can lead to heart problems, liver disease, and other serious health problems.

See Also

• Thalassemia
• Anemia
• Hemoglobin
• Red blood cells
• Cooley's Anemia
• Autosomal recessive
• Blood transfusion
• Iron chelation therapy
• Bone marrow transplant