What is Fanconi Anemia?
Fanconi Anemia is a rare genetic disease in which the bone marrow of a human gets affected. This disease is often seen in children below the age of 10 while about 10% of the population that experience this disease is adults. This disease is either acquired from heredity or happens when someone has Aplastic Anemia. In Fanconi Anemia the bone marrow ability to form blood cells decreases. It is because of an abnormal gene present in the body. It further results in a very low blood cell count in the body which can cause many harmful side effects as well. Fanconi Anemia can be treated in India at a nominal cost. It is one of the main reasons why Medical tourism in India has seen a rise in past years.
What are the symptoms of Fanconi Anemia?
What is Fanconi Anemia and how can it be treated? The symptoms of this disease may vary from person to person. However, some physical abnormalities can be common signs of Fanconi Anemia. Physical abnormalities like missing thumbs, short fingers and underdeveloped hands for forearms can be a sign of Fanconi Anemia. There are several symptoms and signs of Fanconi Anemia. some of them are mentioned for you below.
- Someone who has Fanconi Anemia will experience body structural problems.
- A person with Fanconi Anemia has very low birth weight, a small head and white spaced eyes.
- You can see several skeletal anomalies in the patients who have Fanconi Anemia. There can be anomalies of the hip, spine and ribs.
- A person who has Fanconi Anemia might experience gastrointestinal difficulties.
- The reproductive organs might also not grow properly.
- The person who has Fanconi Anemia might also have defects in the tissues that separate the heart chambers.
- In Anemia, the blood cell count decreases, that’s why a person may feel tired and weak all day. The patient might feel light-headed and dizzy too.
- Irritability and headaches and also a big symptom of Fanconi Anemia.
- A person with Fanconi Anemia has pale skin colour and might experience difficulty in breathing.
- Fanconi Anemia patients experience cardiac issues and poor heart health. A person might also experience bruising and bleeding from the mucous membranes of the nose and gums.
If a person has been experiencing any of the symptoms mentioned above and if the signs have been persistent then they should immediately consult a doctor.
How is Fanconi Anemia diagnosed?
There are several ways to diagnose Fanconi Anemia. It is usually inherited from a family member and takes place due to abnormality in the genes. A person might be infected with FA ever since birth however the symptoms start to show up a few years later. To diagnose Fanconi Anemia a complete history of the family is gathered and there are several tests and procedures that are carried out to confirm the disease.
Chromosome Breakage Test: In this type of test, a blood sample is taken in a test tube and this sample is introduced with some chemicals that tend to alter the DNA. A person who does not have Fanconi Anemia would not experience many changes in cell formation, however, the blood cells of someone with Fanconi Anemia will break, thus completing the diagnosis.
Cytometric Flow Analysis: In this type of treatment, the skin cell samples are taken and mixed with chemicals. In a normal person, the chromosomes do not get affected much but when the skin cells of a person with Fanconi Anemia interact with this chemical they tend to break at a very high rate. This is how Fanconi Anemia is diagnosed.
Mutation Screening: In this type of diagnosis the genes of a patient are examined. A sample of the skin cells is taken to check for any abnormal genetic mutations or changes with the help of special machines. If any changes are observed then a person might have Fanconi Anemia.
If a person is diagnosed with Fanconi Anemia then it is important to get treated as the situation might get complex without medication.
What are the treatments for Fanconi anaemia?
There are several ways in which Fanconi Anemia can be treated.Fanconis Anemia treatment cost in India is nominal and that’s why India is one of the best destinations for its treatment.
Bone Marrow Stem Cell transplant: In this type of treatment the harmful bone marrow cells are replaced with healthy cells through bone marrow transplant.
Gene therapy: In this type of treatment the mutated gene is replaced with a normal gene so that the new gene is able to perform all the functions properly.
Surgery: A surgery is usually performed to correct physical abnormalities and various different defects caused by Fanconi anaemia. It also cures digestive problems as well.
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