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Thalassaemia

थॅलेसेमिया · थैलेसीमिया

थॅलेसेमिया: थॅलेसेमिया मेजर असलेल्या मुलांना दर काही आठवड्यांनी रक्त द्यावे लागते व लोह कमी करणारी औषधे लागतात. लग्नापूर्वी किंवा गरोदरपणात HPLC चाचणी केल्यास हा आजार टाळता येतो.

Thalassaemia is an inherited disorder of haemoglobin. A person with one abnormal gene (thalassaemia trait / minor) is healthy but may have mild anaemia. A child who inherits two abnormal genes may have thalassaemia major, needing regular blood transfusions from infancy.

Signs of thalassaemia major

Paleness, poor feeding and growth, enlarged abdomen (liver and spleen) usually from 6 months to 2 years of age.

Care we provide

  • Planning of regular transfusions to keep haemoglobin at target
  • Iron chelation (deferasirox, deferiprone, desferrioxamine) and monitoring of iron overload (ferritin, MRI T2*)
  • Monitoring of growth, heart, liver and hormones
  • Bone marrow transplant consultation – the only established cure, best done early with a matched sibling

Prevention

Thalassaemia trait is often mistaken for iron deficiency. An HPLC test before marriage or in early pregnancy identifies carriers; if both parents are carriers, prenatal diagnosis is available.