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Description, Types, Causes, Diagnosis, Treatment

What is Aplastic anaemia?

Aplastic anaemia also known as bone marrow failure syndrome is a rare and serious blood disorder where the bone marrow is unable to produce sufficient blood cells. The condition occurs because the stem cells in the bone marrow get damaged and are unable to produce the required quantity of blood cells. This results in fewer red blood cells or white blood cells or platelets.

Aplastic anaemia affects both men and women equally.

Aplastic anaemia is said to be an autoimmune condition where the immune system attacks the stem cells in the bone marrow and prevents the required blood production. A combination of genes, medicines and environmental toxins are believed to be responsible for this condition. Certain infectious agents like hepatitis, HIV or Epstein-Barr virus is also said to cause aplastic anaemia. In some cases, previous cancer treatment of radiotherapy and chemotherapy can also cause aplastic anaemia.

In most cases, the cause is unknown.

Aplastic anaemia can present suddenly. It can be mild and unnoticed at first and then become severe. Aplastic anaemia can become chronic and even fatal if left untreated. Some of the signs and symptoms of aplastic anaemia are:

  • Shortness of breath
  • Fatigue
  • Irregular and rapid heart beat
  • Pallor
  • Easy bruising of the skin
  • Nose bleeds and bleeding gums
  • Cuts that bleed for a long time
  • Frequent infections
  • Dizziness
  • Headaches
  • Fever and general malaise

Diagnosis is usually done with the help of a range of lab tests:

  • Complete blood counts to check the count of red blood cells, white blood cells and platelets
  • Bone marrow biopsy using needle aspiration technique. If a patient has aplastic anaemia, the marrow sample will show a low count of red blood cells. Usually a marrow biopsy is the confirmatory test for aplastic anaemia.
  • Blood transfusions – although this is not a cure for aplastic anaemia, it can treat the low red blood cell counts
  • Iron chelation – Apart from regular blood transfusions, iron chelation therapy may be required to prevent iron toxicity from building up in the vital organs
  • Immunosuppressive drug therapy is sometimes used for older aplastic anaemia patients. Such drugs can stop the immune system from attacking the bone marrow stem cells. Drugs used include: cyclosporine, eltrombopag and anti-thymocyte globulin (ATG). Corticosteroids are also often used with these drugs

As of today, bone marrow transplant is the only cure for aplastic anaemia. A full HLA match with a sibling or unrelated donor is recommended.