What are Aplastic & Fanconi’s Anaemia?

 

What is Anaemia?

Our body is made up of blood cells. These blood cells have a component called red blood cells which carry oxygen and supply it to various parts of the body. The component in the red blood cell that is responsible for this is haemoglobin.

The abnormal reduction in either the number of red blood cells or the quality of haemoglobin is called anaemia.

 

What is Aplastic Anaemia?

Aplastic anaemia is a type of anaemia which is commonly seen in combination with pancytopenia (a disorder in which all the cellular components- red blood cells, white blood cells and platelets have a shortage). It is associated with bone marrow suppression. Bone marrow is the part of the bone which is responsible for the formation of red blood cells.

Aplastic anaemia is usually of an unknown cause and is therefore called idiopathic aplastic anaemia.

 

What are the causes of Aplastic Anaemia?

There are various causes for aplastic anaemia:

  • Drugs and Chemicals: Common drugs which can cause aplastic anaemia are chloramphenicol, amidopyrine, colloidal silver, bismuth, mercury, sulphonamides, penicillin, and anticancer drugs. They act by bone marrow suppression, myelosuppression and hypersensitivity reactions.

  • Infections:

    1. Bacterial infections like tuberculosis

    2. viral infections like hepatitis, parvovirus, Epstein Barr virus, HIV can trigger aplastic anaemia.

  • Radiations: Long-term exposure to radiation may lead to aplastic anaemia.

  • Autoimmune disorders: Autoimmune disorders attack the body’s immune system and this may lead to aplastic anaemia.

  • Pregnancy: Pregnancy and hormonal changes may trigger aplastic anaemia.

  • Anorexia: A mental disorder in which the patient refuses to consume food.

  • Severe Nutritional deficiencies: Vitamin B12 and folic acid deficiency can lead to aplastic anaemia.

 

What are the symptoms of Aplastic Anaemia?

Most symptoms of aplastic anaemia may correspond to that of normal iron deficiency anaemia.

  • Weakness: since there is an overall drop in the red blood cells, the amount of energy supplied is reduced which leads to weakness.

  • Pallor: the paleness of skin is called pallor. This is due to the reduced amount of red blood cells.

  • Retinal haemorrhage: this is because of associated reduced levels of platelets (thrombocytopenia). It is one of the characteristic features of aplastic anaemia.

  • The tendency for bruising: this is another feature which occurs due to thrombocytopenia.

  • Increased risk of infection: since there is a drop in the number of white blood cells (neutropenia), the patient is more prone to infections.

  • Petechiae, ecchymosis: formation of reddish blue discolourations on the surface of the skin and mucous membrane. This occurs due to minor haemorrhages from blood capillaries.

  • Nosebleeds and bleeding gums: the inability of the blood to form clots due to the shortage of platelets.

  • Gingival hyperplasia: in some cases of aplastic anaemia, the gingiva or the gums may become enlarged.


How do doctors detect Aplastic Anaemia?

  • Laboratory diagnosis of a patient whose provisional diagnosis is that of aplastic anaemia blood will show reduced red blood cells (less than 1 million cells per cubic millimetre). White blood cell count is lower than normal limits. (less than 2000 per cubic millimetre. Platelet count may fall below 20000 per cubic millimetre in some typical aplastic anaemia cases.

  • Clinical signs which are seen in patients as mentioned above.

  • Prolonged bleeding time with normal clotting time.

  • Bone marrow appears fatty with few developing cells.

 

What are the treatment modalities available for Aplastic Anaemia?
  1. Removal of the causative agent: If any drugs or chemical agents are the cause of aplastic anaemia, they need to be removed and replaced.

  2. Antibiotics: Since the immunity is low, the patient is prescribed prophylactic antibiotics.

  3. Blood transfusion: It is only a supportive therapy for aplastic anaemia and frequent transfusions are required.

  4. Bone marrow transplantation: In severe cases of aplastic anaemia, bone marrow transplantation or stem cell transplantation may be done. This allows the body to generate blood cells on its own in order to compensate for its absence.

  5. Anti-fibrinolytic agents: It is useful in conditions where there is an injury leading to loss of blood and delayed clot formation. Some of the common antifibrinolytic drugs used are aminocaproic acid, tranexamic acid, etc.

  6. Immunosuppressive therapy: In order to reduce local symptoms, especially when the patient cannot undergo bone marrow transplantation.

 

What is Fanconi’s Anaemia?

It is a rare type of anaemia which is very similar to aplastic anaemia. The patients will have pancytopenia and bone marrow hypoplasia.

Symptoms of Fanconi’s Anaemia include:

  • Skin: Brownish pigmentation of the skin.

  • Hypoplasia: Hypoplasia of kidney and spleen.

  • Microcephaly: The circumference of the patient’s head is smaller than the average.

  • Gingival bleeding and infections.

  • Malformations of the thumb (example polydactyly)

  • Cancer: Cancer of the blood may also be associated with Fanconi’s anaemia. The most common form of cancer is Acute Myeloid Leukaemia.

 

Treatment for Fanconi’s anaemia:
  1. Antithrombotic: Agents to stop bleeds.

  2. Androgens: Androgens are hormones which have the potential to increase the blood count. It can be taken as liquid or pills.

  3. Growth factors: Synthetic growth factors like G-CSF or GM-CSF stimulate the production of white blood cells. They are given through injections.

  4. Stem cell transplantation: Stem cells of a donor are replaced for the defective cells of the patient. This allows the patient’s body to form normal, healthy blood cells. This only works if the compatibility is high between the donor and recipient.

 

What is Dyskeratosis Congenital?

It is a diagnostic triad of conditions which include dysplastic nails, lacy reticular pigmentation of the oral mucosa and oral leukoplakia.

Some of the other symptoms include:

  • Premature ageing such as greying of hair

  • Progressive bone marrow suppression at any age which may include any combination of the cytopenias including aplastic anaemia.

  • Malignancies such as acute myeloid leukaemia or chronic myeloid leukaemia.

  • Pulmonary fibrosis

  • Autosomal dominant, autosomal recessive and X-linked inheritance patterns.

 

What is the cost of treatment in India?

The cost of bone marrow transplantation in leading hospitals in India is around $30840.00 to $53970.00 for the whole treatment.
The cost of the medicines is of variable prices.
For further details regarding aplastic anaemia, surgical procedures, bone marrow transplantation, treatments and assistance, please mail at hellobloodcancercure@gmail.com or call +91-8448533753

 

What is BloodCancerCure:

BloodCancerCure is world’s first such organization working 24*7 on helping blood cancer patients. BloodCancerCure works for patients across world by providing the lowest cost for bone marrow transplants, chemotherapy, and Bone marrow test. You can contact at +91-8448533753 to talk to our experts at BloodCancerCure for BMT treatment in India.
 

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