Thalassaemia is a group of inherited blood disorders that affect the body’s ability to create red blood cells.
- One Gene mutated– little or no effect.
- Two Genes mutated- Mild anaemia.
- Three Genes mutated- Haemoglobin H disease.
- Four Genes mutated-Alpha thalassaemia major.
- Beta thalassaemia major (BTM).
- Beta thalassaemia intermediate (BTI).
The genes received from one’s parents before birth determine whether a person will have thalassemia.
Symptoms and signs
- Delayed puberty
- Shortness of breath
- Skeletal deformities (children)
- Blood test
- DNA testing of the blood
- Iron levels assessment
- Chorionic villus sampling(antenatal screening)
- Liver biopsy
- Red blood cell transfusions.
- Bone marrow transplant
- Cord blood transfusion
Complications of Thalassaemia
- Bone fractures
- Damage to the pituitary gland
- Heart failure
- Pleural effusions
- Systolic dysfunction
- Underactive/overactive thyroid gland.