Fanconi Anemia inheritance is the most common cause of inherited aplastic anemia. It’s a very ugly disease. Fanconi syndrome is a defect in the proximal convoluted tubule; it is known as Renal Tubular acidosis type 2, also known as Proximal Renal Tubular Acidosis and Fanconi Anemia.
On the other hand, it is a genetic disease that affects the bone marrow mainly so they have nothing to do with each other except for sharing the word Fanconi anemia everything here starts with A it is the mnemonic Fanconi anemia autosomal recessive any disease in medicine that autosomal recessive will have constant win a T what the flip does that means it means that the disease that autosomal recessive will be commoner in populations that intermarry between each other.
Fanconi Anemia For- Example
They marry their cousins for example Ashkenazi Jewish population so any other recessive most likely common in a certain group of people the defective DNA repairs homologous recombination which is a mechanism to repair the defects in DNA which leads to chromosomal breaks this leads to stem cell depletion one of those famous stem cells are the hematopoietic.
Stem cells of bone marrow have about Bazillion times before so this will lead to bone marrow aplasia plasma means growth aplasia no growth that’s why we have plastic surgery we grow certain types of organs or tissues in a certain kind of way it’s associated with the bracket to gene mutation what else related to bracha Breast Cancer average age of diagnosis is 8 years bone marrow pleasure will lead to what pancytopenia because of the old cell lines the blood cell lines come from the bone marrow which includes the red blood cells the platelets and the white blood cells so, It is associated with an increased risk of cancers, particularly leukemias and solid tumors. We all have symptoms the patient will have:
- Anemia
- Fatigue exercise
- Intolerance headache
- Angina murmur
- Platelet thrombocytopenia
- Infections
Clinically and Causes of Fanconi Anemia Inheritance:
- Fanconi anemia is caused by mutations in any of several genes responsible for DNA repair.
- It is inherited in an autosomal recessive manner, both copies of the gene must be mutated for the disease to manifest.
Symptoms of Fanconi Anemia:
- Aplastic Anemia
- Fatigue
- Weakness
- Increased susceptibility to infections
- Bleeding
- Shorts stature
- Skeletal anomalies and various other physical features
- High likelihood of developing leukemia and solid tumors particularly in the skin, head, neck, and reproductive organs.
- Developmental delays and organ dysfunction may occur in some cases.
Diagnosis of Fanconi Anemia:
1- Complete Blood Count
2- Bone Marrow
3- Chromosomal Breakage Test
4- Genetic Testing
5- Peripheral Blood Smear
6- Immunophenotyping
Treatment of Fanconi Anemia:
1- Supportive Care:
- Blood transfusion and antibiotics for infections
2- Bone Marrow Transplant:
- The only curative treatment option especially in younger patients with a matched donor.
3- Androgens:
- Medications that may stimulate blood cell production in some cases.