Rare Disease Show: Episode 7: Understanding Fanconi Anemia with Dr Rajendra Pol
Written By : Dr. Nandita Mohan
Written By : Dr Rajendra Pol
Published On 2024-07-16 04:45 GMT | Update On 2024-07-16 10:16 GMT
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Medical Dialogues presents a rare disease series, delving into the realm of uncommon medical conditions. Rare diseases are medical conditions that affect only a small percentage of the population. Throughout this series, we'll discuss these rare diseases in various episodes, with medical experts providing clear explanations and insights.
Rare Disease Show Episode 7 will cover Fanconi Anemia.
Fanconi anemia is the most common cause of inherited bone marrow failure due to a rare autosomal recessive genetic disorder involving all 3 blood cell lines in which homozygous or heterozygous mutations result in pathogenic alleles. These genetic mutations of Fanconi anemia genes cause an accruement of chromosomal damage due to the cell's inability to conduct repairs. resulting in genomic instability, subsequent pancytopenia, and an increased susceptibility to cytotoxic agents, ultraviolet radiation, spontaneous deformation, and predisposition to malignancies.
In this episode, Dr Rajendra Pol, a Hematologist from Baner, Pune, shares his insights by addressing questions asked by the Medical Dialogues team
1. What is Fanconi Anemia highlighting its primary characteristics and why is this a rare disease?
2. What causes Fanconi Anemia, and how is it genetically inherited?
3. What are the common signs and symptoms that indicate a patient may have Fanconi Anemia?
4. How is Fanconi Anemia typically diagnosed, and what tests are used to confirm the diagnosis?
5. What are the common hematologic complications associated with Fanconi Anemia?
6. How does Fanconi Anemia affect the bone marrow, and what impact does this have on blood cell production?
7. What treatment options are available for managing the symptoms and complications of Fanconi Anemia?
8. What are the key considerations for prenatal or preimplantation genetic testing for families with a history of Fanconi Anemia?
9. How does Fanconi Anemia affect other organs and systems in the body, and how are these complications managed?
10. What are the potential long-term outcomes for patients with Fanconi Anemia?
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