The Most Common Human Genetic Mutations And Disorders

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Cystic Fibrosis

Cystic fibrosis is a life-threatening disease caused by a genetic defect. People with CF have a defective gene that causes a thick buildup of mucus in and around the lungs, pancreas, and other internal organs. In the lungs, the mucus clogs the airways making it difficult to breathe. The mucus also traps bacteria that can lead to infections and extensive lung damage. Without treatment, respiratory failure is almost certain. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.

For a person to have CF, both parents must carry the defective gene. Even with both parents as carriers, the chances of contracting the disease is 25%, but 50% of those parent’s offsprings will still carry the defective gene.

theturboforte.com

theturboforte.com

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While there is not a cure for CF medical treatments can make life easier for a CF patient. Breakthrough treatments are rapidly advancing and have already been credited with prolonging the median life expectancy to 40 years, up from 6 just a few years ago.

Symptoms for CF include very salty-tasting skin, persistent coughing sometimes with phlem, frequent respiratory infections including pneumonia or bronchitis, wheezing or shortness of breath, poor growth or weight gain in spite of a good appetite, frequent greasy, bulky stools or difficulty with bowel movements, and male infertility.

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d–h.info


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