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one autosomal dominant disease, one autosomal recessive disease and a sex-linked disease. for each disease discuss...

one autosomal dominant disease, one autosomal recessive disease and a sex-linked disease. for each disease discuss etiology, signs and symptoms, diagnosis, treatments and preventions
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1. Autosomal dominant disease - Huntington disease

  • Etiology - faulty gene on the chromosome 4.
  • Signs and symptoms - abnormal eye movements, imbalance and posture, difficulty in speech and swallowing, rigidity of muscles.
  • Diagnosis - genetic test.
  • Treatment and prevention - there is no cure of it but dopamine medications help to reduce the abnormal behaviour.

2. Autosomal recessive disease - Sickle cell anemia

  • Etiology - mutation in the beta globin gene that makes the hemoglobin.
  • Signs and symptoms - anemia, prone to bacterial infections, swelling and inflammation in the limbs, etc.
  • Diagnosis - blood test.
  • Treatment and prevention - blood transfusions and bone marrow transplant.

3. Sex-linked disease - Hemophilia

  • Etiology - genetic disorders, thrombosis, hematoma, etc.
  • Signs and symptoms - blood in the urine and stool, bleeding gums, joint pain, unexplained bruises, etc.
  • Diagnosis - blood tests to check for clotting factors.
  • Treatment and prevention - regular exercise and avoidance of certain medications.
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