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f508del/g576A
- Question
- My child carries the mutations f508del/g576A.
The genetist, that traced them, has informed us that it is an atypical form of the disease, and the only probable issue may be a fertility problem. He did not recommend us to take any further action and he told us we would not have found it out if we did not look into it. - Answer
- Dear friend,
What led you to check and find these particular mutations? If there was a sweat test, what was the result value? I would like to know the answers to the above questions, in order to give you a more comprehensive answer.
In any case, the genetist was right that it is about an atypical form of the disease, which may present itself with fertility issues only, provided your chlid is male. Your child must, however, be under the supervision and treatment of a Cystic Fibrosis Center about its pulmonary function and any pulmonary infections.
Yours friendly,
Dr. Stavros Doudounakis
- 04.10.2011
