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Genetic Disorder 2
| Question | Answer |
|---|---|
| * Name | Fanconi Anemia |
| * Mode of Inheritance | inherited anemias that leads to bone marrow failure. It is a recessive disorder: if both parents carry a defect (mutation) in the same FA gene, each of their children has a 25% chance of inheriting the defective gene from both parents. |
| * Mistake | Mutation in the same FA gene |
| * Population Effect | 1 per 300 people, leading to an expected birth rate of approximately 1 per 360,000 people. |
| Physical Attributes | Bone marrow failure,Eye and ear defects,Skin discoloration, |
| Treatment | It is essential that the use of androgens is considered in the context of an eventual bone marrow transplant, as their use may affect adversely the success of a transplant.Blood-stimulating growth factors are also used.Bone marrow transplantation |
| Lifespan and quality of life | survival from all causes(bone marrow failure, followed in frequency by leukemia and tumors)for more than 1800 cases reported in the literature is age 20. |