Fanconi Anemia
Fanconi Anemia
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Frequently Asked Questions (FAQ) :
The only known cure is a successful bone marrow transplant. However, supportive care and treatment can manage symptoms and complications effectively.
Bone marrow transplants carry risks such as graft-versus-host disease (GVHD) and infection, but under the care of experienced specialists like Dr. Bhargava, these risks are minimized.
While FA is usually diagnosed in childhood, some milder cases are detected in adulthood. Diagnosis involves blood tests, chromosome breakage tests, and genetic screening.
Yes, Dr. Rahul Bhargava’s hospital offers comprehensive care for international patients, including assistance with visas, accommodations, and post-treatment follow-up.
Introduction to Fanconi Anemia
Fanconi anemia (FA) is a rare genetic disorder that primarily affects the bone marrow, leading to decreased production of all types of blood cells. Over time, this condition can result in serious complications, including bone marrow failure, leukemia, and solid tumors. Dr. Rahul Bhargava, one of India’s top hematologists, specializes in treating complex blood disorders such as Fanconi anemia, offering hope and effective treatment to patients worldwide.
What is Fanconi Anemia?
Fanconi anemia is a hereditary condition, passed down through autosomal recessive inheritance. This means that a child needs to inherit two copies of the mutated gene, one from each parent, to develop the disease. People with FA are at increased risk of developing cancer and various other health issues due to chromosomal instability.
Causes of Fanconi Anemia
The main cause of Fanconi anemia is mutations in genes that help repair damaged DNA. There are at least 22 known FA-related genes, including FANCA, FANCB, FANCC, etc. Mutations in these genes prevent cells from fixing damaged DNA, leading to errors during cell division, which can lead to cancer or bone marrow failure.
- Genetic Mutations: FA is associated with mutations in over 20 genes.
- Inheritance: It is inherited in an autosomal recessive manner, meaning both parents need to be carriers.
Types of Fanconi Anemia
Fanconi anemia can be classified based on the gene mutation:
- FANCA: The most common type, accounting for around 60-70% of cases.
- FANCC: This type is more prevalent in specific ethnic groups, such as Ashkenazi Jews.
- FANCG: The third most common type.
- Others: FANCB, FANCE, FANCF, etc., represent rarer types of Fanconi anemia.
Different types of FA share many clinical features but may vary slightly in their genetic makeup and the age of onset of symptoms
Symptoms of Fanconi Anemia
The symptoms of Fanconi anemia can vary widely but often involve multiple organ systems. They generally become apparent at a young age.
- Physical Symptoms:
- Short stature
- Skeletal anomalies (particularly thumbs and arms)
- Skin pigmentation (café-au-lait spots)
- Microcephaly (small head size)
- Hearing loss
- Hematologic Symptoms:
- Anemia (fatigue, weakness)
- Frequent infections due to low white blood cell count
- Easy bruising or bleeding due to low platelets
- Increased Cancer Risk:
- Leukemia, particularly acute myeloid leukemia (AML)
- Solid tumors, especially head, neck, and gynecological cancers
Diagnosis of Fanconi Anemia
Diagnosing Fanconi anemia can be challenging due to its wide range of symptoms. A thorough evaluation by specialists like Dr. Rahul Bhargava is crucial for early detection and intervention.
- Blood Tests: A complete blood count (CBC) to evaluate the levels of red blood cells, white blood cells, and platelets.
- Chromosome Breakage Test: Cells from a blood sample are treated with certain chemicals that cause chromosome breakage, a hallmark of FA.
- Genetic Testing: Identifies the specific mutation responsible for Fanconi anemia.
- Bone Marrow Biopsy: In cases of bone marrow failure, this test helps assess the extent of the damage.
Treatment Options for Fanconi Anemia
Dr. Rahul Bhargava specializes in comprehensive treatments for Fanconi anemia, offering the latest medical advancements to improve patient outcomes.
- Bone Marrow Transplantation (BMT):
- BMT is the only known cure for Fanconi anemia. In this procedure, healthy stem cells are transplanted into the patient’s bone marrow, where they produce normal blood cells. Success rates for BMT have greatly improved, especially when performed by experts like Dr. Bhargava.
- Androgen Therapy:
- Androgens (male hormones) can help stimulate red blood cell production. This is often a temporary solution and may cause side effects like liver problems or masculinization.
- Growth Factors:
- Medications that stimulate the production of white blood cells or platelets can be used to manage blood cell levels temporarily.
- Supportive Care:
- Frequent blood transfusions
- Antibiotics to prevent infections
- Regular monitoring for cancer
- Experimental Therapies:
- Research into gene therapy and other treatments is ongoing. Dr. Bhargava stays updated with the latest clinical trials and advanced treatments to offer patients cutting-edge options.
Cost of Treatment and Stay in India
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