Thalassaemia is a group of inherited blood disorders that affect the body’s ability to create red blood cells.
Classification
Alpha thalassaemia
- 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
- Beta thalassaemia major (BTM).
- Beta thalassaemia intermediate (BTI).
Causes
Genetics-
The genes received from one’s parents before birth determine whether a person will have thalassemia.
Symptoms and signs
- Delayed puberty
- Fatigue
- Jaundice
- Shortness of breath
- Skeletal deformities (children)
- Weakness
Investigations
- Blood test
- DNA testing of the blood
- Iron levels assessment
- Chorionic villus sampling(antenatal screening)
- MRI-scan
- Liver biopsy
Treatment
- Medicines
- Red blood cell transfusions.
- Bone marrow transplant
- Cord blood transfusion
Complications of Thalassaemia
- Arrhythmias
- Bone fractures
- Cirrhosis
- Damage to the pituitary gland
- Diabetes
- Fibrosis
- Heart failure
- Hepatitis
- Hypersplenism
- Osteoporosis
- Pleural effusions
- Systolic dysfunction
- Underactive/overactive thyroid gland.