Thalassemia: Causes, Symptoms, Diagnosis, and Treatment

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Thalassemia
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Thalassemia

• Thalassemia is a genetic blood disorder which
  leads to abnormal production of haemoglobin and
  red blood cells. The red blood cells in our
  bodies are responsible for the transportation of
  oxygen throughout the body. The red blood cells
  contain a protein molecule known as, Haemoglobin.
  The haemoglobin present in the red blood cells
  carries oxygen from the lungs and circulate it
  rest of our body. Haemoglobin also gives red
  colour to blood cells, that is why, they are
  known as red blood cells. Thalassemia disease
  destroys the large amount of healthy red blood
  cells in your bodies, which causes the shortage
  of oxygen in the body. Thalassemia may also give
  birth to anaemia, which is another life
  threatening disorder. There are two main types of
  thalasseima- alpha thalassemia and beta
  thalassemia.

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Causes of Thalassemia

• Since thalassemia is an inherited disorder there
  are high chances that one or both of the parents
  are carrying a gene that causes thalassemia. The
  defect or alteration in one of the genes, which
  is responsible for the production of haemoglobin,
  can lead to thalassemia. If, both mother and
  father are carriers of thalassemia, the chances
  of developing this disease by a child increase
  significantly. At present there are more than 6
  million cases of thalassemia in India.

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Symptoms

• The symptoms of thalassemia are visible before a
  child is two years old. The symptoms of
  thalassemia are somewhat same as anemia. 
• Fatigue
• Colourless skin
• Restricted growth
• Numbness in hands and feet
• Lack of appetite
• Jaundice
• Malnourishment
• Enlarged organs

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Diagnosis of Thalassemia

• Initially, a doctor will do a thorough physical
  examination, which may include checking pulse and
  blood pressure. After that a doctor will order a
  diagnostic test. The diagnosis for thalassemia
  may include 
• CBC (Complete Blood Count)
• Genetic testing
• Iron test
• Prenatal testing
• These tests will help in measuring the amount of
  haemoglobin, shape of blood cells, checking the
  deficiency of iron, and reveal if parents are its
  carrier or not.

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Treatments

• The type of treatment for thalassemia depends
  upon the severity of the condition. Some
  treatments of thalassemia are Blood
  transfusion- It is the process of transferring
  healthy blood or blood plasma into a vein or an
  artery, to revive the hemoglobin and red blood
  cell level in the body. Blood transfusion is
  repeated every four months or depending upon the
  patient. Bone marrow transplant- When a bone
  marrow of a person is not able to function
  properly it results in the lack of production of
  essential blood cells needed by the body.
  Therefore, a bone marrow transplant is, done so
  that body can continue its function to produce
  healthy blood cells. The bone marrow
  transplant is a medical procedure done to replace
  the damaged bone marrow with a healthy bone
  marrow.

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