Fanconi’s Anemia is treated using Allogeneic bone marrow transplant, the cost of which starts from USD 22,000 (INR 16,14,000) in India. The cost is subjective to many factors and can be more or less depending on your medical condition, availablity of the donor, experience of the surgeon and the type of hospital you choose.
Fanconi’s Anemia, also called Fanconi Anemia or FA, is a rare, inherited, genetic disease in which the DNA lacks the ability to repair itself. This malfunction leads to chromosome instability meaning that the DNA breaks or rearranges easily. FA is equally reported in both males and females and in all ethnic groups.
Fanconi’s Anemia manifests as a progressive deficiency in the bone marrows ability to produce blood cells. The disease is linked to an increased risk of certain types of cancer such as tumors of the genital and gastrointestinal systems, tumors of the skin, head and neck and Acute Myeloid Leukemia. Fifty percent of patients are diagnosed at 10 years of age or younger. While there are several sub-types of FA most of them share the same symptoms.
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Fanconi’s Anemia is caused by a rare genetic abnormality that leads to the DNAs inability to repair itself. As a result of the abnormality, the DNA breaks or rearranges itself easily a condition known as chromosome instability. Fanconi’s Anemia is an inherited disease, which means that the disease is passed to the children through faulty genes from the parents.
There have been eighteen gene abnormalities linked to occurrences of FA. If only one parent has one of the faulty genes and passes it on to the child, the child will be a carrier of the gene but will not develop the disease. When both parents have the same faulty gene, and both pass it on to the child, then the child will develop Fanconi’s Anemia.
If only one parent passes on the faulty gene then the child will be a carrier, and can pass the gene or the disease, on to their own children but they do not, themselves, develop the disease. When both parents possess the faulty gene there is a 25% chance of having Fanconi’s Anemia and a 50% chance of being a carrier. If only one of the parents has a faulty gene, the child won’t have the disorder but will have a 50% chance of being an FA carrier and passing the gene to their children.
Fanconi’s Anemia is generally diagnosed in early childhood due to the physical abnormalities associated with the disease. Some abnormalities may manifest at birth, such as having too many or malformed fingers or thumbs, while others, such as short stature or underdeveloped head, and skin pigmentation issues are detected between the ages of two and fifteen as the child develops. If no physical abnormalities are present the disease may go undiagnosed until symptoms associated with anemia develop such as difficulty breathing, fatigue, or bleeding or bruising easily or excessively. A variety of tests are used to diagnose FA depending on the age of the patient but only genetic testing can confirm the diagnosis.
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The symptoms of Fanconi’s Anemia vary a great deal. Some of the earliest markers of FA are the physical abnormalities that manifest in early childhood. 60% of children born with Fanconi’s Anemia display one or more of the following physical abnormalities.
Symptoms related to blood production generally begin to appear around the age of six. As the anemia progress patients may develop symptoms that include:
The majority of patients with Fanconi’s Anemia will eventually develop bone marrow failure. Bone marrow is the substance in the bones that produces blood cells. When the bone marrow fails it can no longer produce enough fully developed blood cells to support the body. Conditions related to bone marrow failure include:
Patients who survive to adulthood are at extremely high risk of developing gastrointestinal or gynecological cancers or cancer of the head and neck even if the disease did not manifest symptoms earlier in life.
The treatments for Fanconi’s Anemia typically focus on managing the symptoms of the disease. The treatment options depend on factors such as age, the progression of the disease and overall health. Short-term treatments may include:
Currently, the only long-term treatment for Fanconi’s Anemia is a bone marrow or stem cell transplant. During this procedure, radiation and/or chemotherapy is used to destroy the existing, damaged, bone marrow which is then replaced with healthy donor cells.
In some cases, doctors may choose to use a type of hormone therapy called androgen therapy. Androgen therapy uses male hormones to enhance blood production. Androgen therapy only lasts for a short time and can lead to liver damage so the choice to use it must be weighed against the patient’s age and overall health.
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