🧬 Learn about Fanconi Anemia (FA), a rare inherited disorder affecting bone marrow and DNA repair. Early genetic testing helps prevent cancer risks and improves treatment outcomes.
A Lifesaving Genetic Screening by MDMLAB
🌿 What is Fanconi Anemia (FA)?
Fanconi Anemia (FA) is a rare, inherited blood disorder that affects the bone marrow's ability to produce healthy blood cells. Caused by mutations in any of the 23 known FA genes, the disease impairs the body’s DNA repair system—leading to cell damage, organ abnormalities, bone marrow failure, and heightened cancer risks.
🔍 Why You Need This Test
Early diagnosis of Fanconi Anemia is critical for:
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🔬 Detecting bone marrow failure before symptoms worsen
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🧬 Identifying inherited mutations for family planning
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🛡️ Reducing risk of leukemia and other cancers
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👩⚕️ Enabling timely stem cell transplantation or supportive care
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👨👩👧 Helping families through genetic counseling
If your child shows signs like slow growth, frequent infections, abnormal skin pigmentation, or developmental abnormalities, FA testing is essential.
🧪 Symptoms of FA
Symptoms usually appear in early childhood and may include:
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Anemia or low blood count
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Recurrent infections
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Developmental delays
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Short stature
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Skin discoloration (café-au-lait spots)
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Bone, kidney, or heart defects
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High risk of leukemia and solid tumors
🧬 Root Cause of Fanconi Anemia
FA is an autosomal recessive genetic disorder, meaning both parents must pass on a faulty gene for the child to be affected. The disease disrupts the DNA repair pathway, leading to cell death and bone marrow suppression. Environmental exposures, like chemicals and radiation, can worsen the condition.
🧫 Pathogenicity: Why It’s Dangerous
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Genomic instability increases cancer risk (AML, squamous cell carcinoma, brain tumors)
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High risk of bone marrow failure
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Affects multiple organs: kidneys, skeleton, heart
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10–15% of patients develop cancer before age 40
🧍 Morphology and Clinical Features
FA is highly variable in severity. The most common issues include:
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Anemia (low red blood cells)
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Thrombocytopenia (low platelets)
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Neutropenia (low neutrophils)
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Birth defects in fingers, kidneys, and heart
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Delayed physical development
🧬 How is FA Diagnosed?
Early and accurate diagnosis includes:
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🔍 Genetic testing (DNA sequencing for FA gene mutations)
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🩸 Complete blood count (CBC)
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🦴 Bone marrow biopsy
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🩻 Radiographic imaging (for bone and organ abnormalities)
We recommend FA testing for any child or adult showing unexplained anemia, birth defects, or a family history of bone marrow disorders.
🛡️ Can Fanconi Anemia Be Prevented or Treated?
While there is no permanent cure, early diagnosis allows for timely treatment:
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Hematopoietic Stem Cell Transplantation (HSCT) can restore healthy blood cell production
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Regular blood transfusions to manage anemia
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Vaccinations and infection prevention
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Growth hormone therapy for short stature
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Physical therapy for motor development
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Psychological support for emotional well-being
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Genetic counseling for family planning
🧠 Related Genetic Disorders
Fanconi Anemia shares features with other rare genetic DNA repair disorders:
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Ataxia-telangiectasia (A-T)
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Nijmegen Breakage Syndrome (NBS)
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Bloom Syndrome (BS)
These disorders also show increased cancer risk and radiation sensitivity.
❓ Frequently Asked Questions (FAQs)
1. What causes Fanconi Anemia?
FA is caused by inherited mutations in one of 23 known genes responsible for repairing DNA.
2. Is FA a type of cancer?
No, but it increases the risk of developing certain cancers, especially leukemia and squamous cell carcinoma.
3. How is FA inherited?
It is an autosomal recessive condition—both parents must carry the gene mutation.
4. What are the early signs of FA in children?
Short stature, frequent infections, fatigue, and skin pigmentation are common early signs.
5. Can FA be cured?
There is no cure, but treatments like stem cell transplantation can manage the disease effectively.
6. Who should get tested?
Anyone with a family history of FA or a child showing unexplained physical or blood abnormalities should consider testing.
7. Is FA testing available at MDMLAB?
Yes, we offer comprehensive FA gene panel testing and expert genetic counseling.
🧬 Book Your FA Test Today
Early detection saves lives.
Get your Fanconi Anemia screening done with MDMLAB for precision, reliability, and expert care.
📍 Visit us: MDMLAB
📞 Call: 9502246660
🌐 Website: [https://mdmlab.in/]
MDMLAB – Trusted by Families, Recommended by Experts.
“Because every gene tells a story. Let’s read it right.”
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