hi dr
please could you try and answer my questions please as i am worried.
if either me or my partner are carriers can we still have children or do we both have to be carriers to it affect the child? i think that it does not harm anyone to be a carrier is this correct?and also if a child is diagnosed as just a carrier will they lead a normal life ? any insight would help me
Hello, there!
Cystic fibrosis is inherited fromyour parents. However both your parents have to be carriers, for one of the children to have the disease, and the chance is 25%, 1 in 4. However if only one parent is a carrier, none of the children would be at risk of developing cystic fibrosis, but a 50% chance of being a carrier only, which would not cause any problems whatsoever.
Best wishes,
Jose
that information is excellent how many people actually carry the disiese in white uk population roughley ? and how many different genes is there? and are some genes more serious than others?
thankyou for your quick response
Hello, there,
Cystic Fibrosis is the UK's most common life-threatening inherited disease, affecting over 8,000 people in the UK. Over two million people in the UK carry the faulty gene that causes Cystic Fibrosis - around 1 in 25 of the population. If two carriers have a child, the baby has a 1 in 4 chance of having Cystic Fibrosis.
Cystic Fibrosis affects the internal organs, especially the lungs and digestive system, by clogging them with thick sticky mucus. This makes it hard to breathe and digest food.
The CF gene is found on chromosome 7. A child that has CF has inherited two faulty genes, one from each parent.it makes a protein called CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), which transports salt and water in and out of the cells that line the lungs and digestive system. CFTR doesn't function properly in CF. Usually, it gives out too much salt and too little water, which is why sticky mucus clogs the lungs and there is extra salt in the sweat
There are different ways of testing for Cystic Fibrosis. A simple mouthwash test can be taken to tell if you are a carrier. This is important if a relative has CF or is a known carrier. It is very important to have the test if your partner is a known carrier. There is also a test used early in pregnancy to tell whether a baby has Cystic Fibrosis. It is usually offered to mothers who are recognised as being at a high risk of having a child with Cystic Fibrosis.
Other tests for Cystic Fibrosis are the sweat test (people with CF have more salt in their sweat, which can be detected) or a genetic test, which is a swab taken by gently rubbing the inside of the cheek to check for the faulty CF gene.
Best wishes,
Jose