Autosomal recessive inheritance is one way in which some conditions are passed on in a family.
We have two copies of each gene. One copy is inherited from each of our parents. When we have children, we pass on only one copy of each of our genes.
In recessive conditions, individuals only develop the condition if both copies of a gene are altered. People who have only one altered copy of a gene are usually completely healthy. They are known as carriers, because they carry one altered copy of a gene. Their normal copy of the gene keeps them healthy and compensates for the altered copy of the gene.
Where there is a family history of a genetic condition, the risk of having a baby affected by that condition depends on the pattern of inheritance of the condition.
In most families where the parents are cousins, there is no history of a specific condition. In this case there are usually no tests that can usefully be carried out.
A few genetic conditions (such as Thalassaemia) are more common in some population groups. If the ancestry of the parents is known then genetic testing may be possible to find out if they are carriers of the condition.
In families with a known condition, it may be possible to find out if either or both parents are carriers of the condition.
If there is a genetic condition in your family your GP will be able to refer you to the genetic clinic. An appointment will enable you to make an informed choice and make you aware of what the risks are. We do not tell people what to do. We are here to provide families with information to make the best choices for them and their children.
It is important for couples who are cousins and are planning to have children, to think about having genetic counselling, especially when there is a known condition in the family.
Some family relationships are complex and involve a number of generations where parents are closely related. The specialised knowledge that the genetic counselling team has is required to estimate the possible risk to children resulting from the couple’s family relationship.
If you are part of a family that would like to be referred to the genetic service but do not know how to do this you can contact Naz Khan on 0161 276 6285 or 0161 271 0254 (Reception), or ask your GP.
We have genetic outreach workers throughout the North West who provide support for families in the community and help families to obtain referrals to genetic service. Their details are Wahida (07850 488197) or Anne Eddington (07715 651504).