Cystic Fibrosis
Cystic fibrosis is when thick mucus is produced due to a hereditary genetic disorder; the mucus produced is so thick that it clogs the body’s tubes and passageways. Cystic fibrosis is caused by the mutation in a gene known as the CFTR gene; this fault in the gene causes the normal workings of a protein to be blocked allowing too much salt and not enough water into cells. These result in the build-up of thick mucus in the body’s tubes and passageways blocking them, these blockages damage the lungs and digestive system. To develop cystic fibrosis the person would have to inherit this faulty gene from both their parents as genes come in pairs and the faulty gene is the recessive gene. If a child is conceived by the two carriers, there is:
• a one-in-four chance that the child will not inherit either of the faulty genes (the child will not have cystic fibrosis and will not be a carrier of the condition)
• a one-in-two chance that the child will inherit one copy of the faulty gene from either their father or mother (the child will not have cystic fibrosis but will be a carrier of the condition)
• a one-in-four chance that the child will inherit both copies of the faulty gene (the child will have cystic fibrosis)
-NHS (website)
In the UK, it is thought that 1 person in every 25 carries the faulty gene for cystic fibrosis, which is why it is a relatively common genetic condition. A carrier can be completely healthy and have no symptoms of cystic fibrosis. This shows that cystic fibrosis is rare to develop and can be caught early.
Symptoms of cystic fibrosis usually start during the person’s childhood, these symptoms could include:
• Persistent cough
• Recurring chest and lung infections
• Poor weight gain
The symptoms become apparent in the first year of life and there are three main ways of diagnosing this condition:
• New born testing
• Antenatal testing
• Sweat testing
New born testing:
Babies go for a screening at birth; a small amount of the baby’s
• a one-in-four chance that the child will not inherit either of the faulty genes (the child will not have cystic fibrosis and will not be a carrier of the condition)
• a one-in-two chance that the child will inherit one copy of the faulty gene from either their father or mother (the child will not have cystic fibrosis but will be a carrier of the condition)
• a one-in-four chance that the child will inherit both copies of the faulty gene (the child will have cystic fibrosis)
-NHS (website)
In the UK, it is thought that 1 person in every 25 carries the faulty gene for cystic fibrosis, which is why it is a relatively common genetic condition. A carrier can be completely healthy and have no symptoms of cystic fibrosis. This shows that cystic fibrosis is rare to develop and can be caught early.
Symptoms of cystic fibrosis usually start during the person’s childhood, these symptoms could include:
• Persistent cough
• Recurring chest and lung infections
• Poor weight gain
The symptoms become apparent in the first year of life and there are three main ways of diagnosing this condition:
• New born testing
• Antenatal testing
• Sweat testing
New born testing:
Babies go for a screening at birth; a small amount of the baby’s