Dr Rahul Bhargava Haematologist

MBBS, MD, DM (Clinical Haematology)

Principal Director & Chief Hematology at Fortis Hospital

MBBS, MD, DM (Clinical Haematology)

Principal Director & Chief Hematology at Fortis Hospital

Fanconi Anemia

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Frequently Asked Questions (FAQ) :

 Life expectancy for individuals with Fanconi anemia varies depending on the severity of the condition and the success of treatments like bone marrow transplants. With early diagnosis and appropriate care, many patients live into adulthood.

 Currently, there is no cure for Fanconi anemia, but treatments like bone marrow transplants can significantly improve the quality of life and increase life expectancy.

 Fanconi anemia is inherited in an autosomal recessive pattern, meaning both parents must carry the defective gene for their child to develop the disorder.

 The chances of finding a compatible donor vary, but siblings have a 25% chance of being a match. International bone marrow registries also increase the likelihood of finding a suitable donor.

 Yes, genetic counseling is highly recommended for families with a history of Fanconi anemia to understand the risks and make informed decisions about family planning.

About Fanconi Anemia

Fanconi anemia (FA) is a rare, inherited blood disorder that leads to bone marrow failure. It affects the body’s ability to produce blood cells, which are vital for oxygen transport, immune response, and clotting. Over time, FA can lead to various health complications, including a higher risk of certain cancers and physical abnormalities. Dr. Rahul Bhargava, a leading hematologist in India, specializes in diagnosing and treating this complex condition, offering personalized care for each patient.

Types of Fanconi Anemia

Fanconi anemia is classified based on the specific genetic mutations involved. There are currently more than 20 identified genes associated with FA, each contributing to different types of the disorder:

  1. FANCA, FANCC, FANCG: These are the most common types, accounting for approximately 90% of all cases.
  2. Rare Types (FANCD1, FANCE, FANCF, etc.): These less common types are associated with different genetic mutations, often leading to more severe symptoms and complications.
  3. Somatic Mosaicism: In some cases, individuals may have cells with both normal and mutated genes, resulting in a milder form of the disease.

Causes of Fanconi Anemia

Fanconi anemia is primarily caused by inherited mutations in specific genes responsible for DNA repair. These mutations disrupt the ability of cells to repair damaged DNA, leading to the accumulation of genetic defects that can cause bone marrow failure and increase the risk of cancer. FA is inherited in an autosomal recessive manner, meaning both parents must carry the defective gene to pass it on to their child.

Symptoms of Fanconi Anemia

The symptoms of Fanconi anemia can vary widely from person to person, but they generally include:

  1. Physical Abnormalities: These may include skeletal anomalies such as short stature, missing or misshapen thumbs, and developmental delays.
  2. Blood Disorders: Patients often develop aplastic anemia, characterized by a shortage of all types of blood cells (pancytopenia). This can lead to fatigue, frequent infections, and easy bruising or bleeding.
  3. Increased Cancer Risk: FA patients are at a higher risk of developing cancers, particularly leukemia, and squamous cell carcinoma.
  4. Endocrine Problems: Growth hormone deficiency, thyroid dysfunction, and other endocrine issues are also common in FA patients.

Diagnosis of Fanconi Anemia

Diagnosing Fanconi anemia involves a combination of clinical evaluations, laboratory tests, and genetic analysis:

  1. Blood Tests: These tests check for low blood cell counts and other abnormalities.
  2. Chromosome Breakage Test: This is a key diagnostic tool for FA. It measures how well cells repair damaged DNA.
  3. Genetic Testing: Identifying mutations in the FA-associated genes confirms the diagnosis and helps determine the specific type of FA.

Treatment of Fanconi Anemia

The treatment for Fanconi anemia is tailored to the individual’s symptoms and may include:

  • Bone Marrow Transplant (BMT): This is currently the most effective treatment for FA. It involves replacing the faulty bone marrow with healthy marrow from a compatible donor.
  • Androgens and Hematopoietic Growth Factors: These medications can help stimulate blood cell production and delay the need for a transplant.
  • Supportive Care: Regular monitoring, blood transfusions, and treatment for infections are critical aspects of managing FA.
  • Cancer Surveillance: Given the increased cancer risk, patients require regular screenings and early interventions.

Cost of Treatment and Stay in India

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