Thallasaemia

Thalassaemia is an inherited blood disorder characterized by less haemoglobin and fewer blood cells in the body than normal. In thalassaemia, the production of the globin element of haemoglobin is abnormal. Instead of producing alpha and beta globin chains in equal amounts, the body of the patient with this disorder is unable to make enough of one of these chains. If there are very few alpha chains, it causes alpha-thalassaemia. In case of few or no beta chains, a person suffers from beta-thalassaemia, which is the most common form.

Types

  1. Alpha thalassaemia – when genes related to alpha globin are changed or missing
  2. Beta thalassaemia – when similar gene defects affects the production of the beta globin protein

Each type has a sub-type:
Thalassaemia major – if you receive a defective gene from both the parents, you are likely to suffer from thalassaemia major.
Thalassaemia minor – if you receive a gene that is defective, from one parent, you are likely to suffer from this form of the disorder. Generally, it does not show any symptoms. The person suffering from this form of disorder is believed to be a carrier of the disease.

Signs & symptoms
The disorder may show few symptoms in mild cases. However, in severe cases, signs appear from the age of four to six months.

  • Severe anaemia causing pale skin, shortness of breath and abdominal swelling due to enlarged spleen or liver
  • Susceptibility to infections
  • Fatigue
  • Growth failure
  • Shortness of breath
  • Deformities of the bones, particularly of the face, develop as the bone marrow expands in its attempt to produce enough haemoglobin.

Diagnosis
Thalassaemia can be diagnosed through a physical examination, which may reveal an enlarged or swollen spleen. Testing of a blood sample too can help to diagnose this disease. The microscopic image of your red blood cells may appear small and abnormal shaped. A complete blood count is recommended to know the status of haemoglobin or in severe cases, to know the status of anaemia. Your doctor may also prescribe you to get a haemoglobin electrophoresis done to test the presence of an abnormal form of haemoglobin.

Treatment
Severe cases of thalassaemia require blood transfusions at regular intervals throughout life. This may lead to overload of iron in the patient’s body. Drugs are given to bind the iron so that it passes out in the urine without damaging the liver, pancreas and heart.

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