Rare disease day 2025 : What is Fanconi Anemia, a rare blood disorder that calls for urgent awareness
Fanconi anemia (FA) is a rare genetic disorder that affects the bone marrow's ability to produce blood cells. It is aninherited condition and can cause serious health problems—including developmental abnormalities, bone marrow failure and a greater risk of cancer. Early diagnosis and treatment—especially through blood stem cell transplantation—provides an opportunity for second chance at life!
FA is found to be more prevalent in populations including, South Africans, sub-Saharan Africans, Spanish Gitanos, US Ashkenazi Jews, and European, due to inherited genetic mutations. In India, FA occurs in approximately 1 in 3,50,000 live births. The Indian government acknowledged it as a rare diseases under National Policy for Rare Diseases. Hence, it enables eligible patients to receive financial assistance for treatment.
Fanconi Anemia is caused by mutations in genes responsible for DNA repair, meaning body’s ability to fix damaged DNA is impaired; leading to abnormal cell growth and function. Furthermore, it is an autosomal recessive disorder, which means this condition occurs when a child inherits a defective gene from both parents.
Symptoms and early signs
FA is a multi-system disease, requiring a comprehensive and interdisciplinary approach to clinical care and treatment. Symptoms of FA will differ from case to case, but some of the most common ones include:
• Decrease in red blood cells, white blood cells which helps in fighting infections, and platelets which help in blood clotting. This leads to episodes of fatigues, high incidence of infection and excessive bruising or bleeding, and bone marrow failure.
• Children born with FA condition have birth defects such as short stature, missing thumb, pigmentation differences on their skin, skeletal abnormalities, and defects in kidney or heart.
• Children with FA condition have higher risk of developing cancer (Acute myeloid leukemia, Myelodysplastic syndrome), tumors in head, neck and reproductive systems.
Diagnosis and testing
Because FA affects multiple organs in the body, diagnosing it requires specialised tests. The tests include:
• Chromosome breakage test, the most common test. In this test the cells are exposed to chemicals that induce damage to DNA and if it is reported that cells fail to repair themselves properly, the case of FA is suspected.
• Genetic testing helps in identifying mutations in FA-related genes and confirm the diagnosis.
• Through blood tests and bone marrow biopsy test the health practitioner can assess blood cell counts and detect the possible early signs of bone marrow failure or cancer.
Why blood stem cell transplant can be a lifesaving treatment
Blood stem cell transplant is the only option for second chance at life for patients with FA. The procedure helps in replacing the faulty stem cell with health stem cells from a matching donor. It restores normal blood cell production. However, finding a suitable blood stem cell match remains challenging due to India's shortage of registered donors. While countries such as Germany (19%) and the United States of America (5%) have millions of registered donors, only 0.09% of Indian population of the relevant age is registered as blood stem cell donor. This can leave many patients without a viable option.
The need for awareness and action
When a disease is rare, one can expect the impact on affected individual and the families will be profound. Therefore, it is of utmost importance to raise awareness on rare disease and condition through continuous educational programs. This can help with early diagnosis, improved treatment access, and drive more stem cell donor registrations. By raising awareness consistently, registering as potential blood stem cell donors, and conducting regular donor registration drives, we can improve access to life-saving treatments for children suffering from FA. There are successful cases where timely interventions coupled with medical advancement helped children with FA lead healthier lives—proving awareness and action can truly bring about huge difference!
Dr. Nitin Agarwal, HOD – Donor Request Management, DKMS Foundation India
FA is found to be more prevalent in populations including, South Africans, sub-Saharan Africans, Spanish Gitanos, US Ashkenazi Jews, and European, due to inherited genetic mutations. In India, FA occurs in approximately 1 in 3,50,000 live births. The Indian government acknowledged it as a rare diseases under National Policy for Rare Diseases. Hence, it enables eligible patients to receive financial assistance for treatment.
Fanconi Anemia is caused by mutations in genes responsible for DNA repair, meaning body’s ability to fix damaged DNA is impaired; leading to abnormal cell growth and function. Furthermore, it is an autosomal recessive disorder, which means this condition occurs when a child inherits a defective gene from both parents.
Symptoms and early signs
FA is a multi-system disease, requiring a comprehensive and interdisciplinary approach to clinical care and treatment. Symptoms of FA will differ from case to case, but some of the most common ones include:
• Decrease in red blood cells, white blood cells which helps in fighting infections, and platelets which help in blood clotting. This leads to episodes of fatigues, high incidence of infection and excessive bruising or bleeding, and bone marrow failure.
• Children born with FA condition have birth defects such as short stature, missing thumb, pigmentation differences on their skin, skeletal abnormalities, and defects in kidney or heart.
• Children with FA condition have higher risk of developing cancer (Acute myeloid leukemia, Myelodysplastic syndrome), tumors in head, neck and reproductive systems.
Diagnosis and testing
Because FA affects multiple organs in the body, diagnosing it requires specialised tests. The tests include:
• Chromosome breakage test, the most common test. In this test the cells are exposed to chemicals that induce damage to DNA and if it is reported that cells fail to repair themselves properly, the case of FA is suspected.
• Genetic testing helps in identifying mutations in FA-related genes and confirm the diagnosis.
• Through blood tests and bone marrow biopsy test the health practitioner can assess blood cell counts and detect the possible early signs of bone marrow failure or cancer.
Why blood stem cell transplant can be a lifesaving treatment
Blood stem cell transplant is the only option for second chance at life for patients with FA. The procedure helps in replacing the faulty stem cell with health stem cells from a matching donor. It restores normal blood cell production. However, finding a suitable blood stem cell match remains challenging due to India's shortage of registered donors. While countries such as Germany (19%) and the United States of America (5%) have millions of registered donors, only 0.09% of Indian population of the relevant age is registered as blood stem cell donor. This can leave many patients without a viable option.
The need for awareness and action
When a disease is rare, one can expect the impact on affected individual and the families will be profound. Therefore, it is of utmost importance to raise awareness on rare disease and condition through continuous educational programs. This can help with early diagnosis, improved treatment access, and drive more stem cell donor registrations. By raising awareness consistently, registering as potential blood stem cell donors, and conducting regular donor registration drives, we can improve access to life-saving treatments for children suffering from FA. There are successful cases where timely interventions coupled with medical advancement helped children with FA lead healthier lives—proving awareness and action can truly bring about huge difference!
Dr. Nitin Agarwal, HOD – Donor Request Management, DKMS Foundation India
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