Thalassemia major is a rare blood disorder that is characterized by a marked increase in F haemoglobin and a decrease in the production of certain oxygen carrying proteins in red blood cells. Thalassemia major is the most severe form of chronic familial anaemia that comes as a result of premature destruction of red blood cells (haemolytic). People with this disorder also have a reduced number of circulating red blood cells (erythrocytes). Thalassemia major is an autosomal recessive trait and is inherited.
WHEN DOES THALASSAEMIA MAJOR OCCUR?
Thalassemia major occurs when a child inherits two mutated genes (one from each parent). Children born with thalassemia major generally develop the symptoms of severe anaemia within the first year of their life. They experience choric fatigue as they lack the ability to produce normal, adult haemoglobin.
SYMPTOMS OF THALASSAEMIA MAJOR
Children born with thalassemia major (Cooley’s anaemia) are normal at birth, however develop severe anaemia during their first year of life.
Symptoms of thalassemia major can include:
- Shortness of breath
- Jaundice (yellow skin and eyes)
- Growth failure
- Bone deformities: Your bone marrow may to expand causing your bones to widen. This results in abnormal bone structures, especially in the face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the risk of bones breaking.
TREATMENT OPTIONS AVAILABLE FOR THALASSAEMIA MAJOR
Treatment for thalassemia major often involves having regular blood transfusions and folate supplements. If you receive blood transfusions, you should not take iron supplements, as doing so can cause a high amount of iron to build up in your body, which can be harmful to your overall health.
If you’re someone who receives regular blood transfusions you will also require chelation therapy, a treatment that removes excess iron from the body.
BONE MARROW TRANSPLANT
The only possible way of curing thalassemia is by having a stem cell or bone marrow transplant; however this isn’t performed very often as there are significant risks involved with this procedure.
DIAGNOSING THALASSAEMIA MAJOR
- Physical exam and history taking: During a physical exam, your doctor will discuss with you the symptoms your experience as well as asking you questions regarding the medical history of you and your family. He/she will then do a physical exam to look for any signs of the condition such as enlarged spleen and bone deformities.
- Blood tests: A sure sign of thalassemia is that the red blood cells will appear small and abnormally shaped when looked at under a microscope.
- Complete blood count (CBC): This test reveals anaemia.
- Haemogoblin electrophoresis: Shows the presence of an abnormal form of hemoglobin.
- Mutational Analysis: Help detect alpha thalassemia.