Thalassaemia

Thalassemia 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
  1. DNA testing of the blood
  2. 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–

  • Arrhythmias
  • Bone fractures
  • Cirrhosis
  • Damage to the pituitary gland
  • Diabetes
  • Fibrosis
  • Heart failure
  • Hepatitis
  • Hypersplenism
  • Osteoporosis
  •  Pleural effusions
  • Systolic dysfunction
  • Underactive/overactive thyroid gland.

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