Recessive genetic diseases are those in which both copies of the same gene must be altered for the disease to manifest. Although this is not always the case, in this article we will explained in detail what they are, how they are transmitted and how we can detect them to prevent them from being inherited by the next generation.
Among the diseases that are genetically transmitted from parents to children, we can differentiate two groups: dominant genetic diseases and recessive genetic diseases.
In order to properly explain these types of diseases, we must know that all humans inherit 23 pairs of chromosomes, with one chromosome of each pair coming from the father and the other from the mother. This inheritance occurs randomly, so if one of our parents carries a recessive genetic disease, we may also carry it or even manifest it if we inherit it from both parents.
That is to say, for a recessive genetic disease to manifest, we need to inherit the mutation in the same gene from both parents. This is why the probability of having a child with a recessive genetic disease is 50%, as long as both parents carry the disease.
On the other hand, there is only a 25% chance that descendants are born with the unaltered gene. Similarly, there is a 25% chance that the child will inherit and manifest the disease.
The autosomal recessive diseases manifest with the inheritance of both pairs of chromosomes carrying the disease, except in the case of X-linked diseases. Among the autosomal recessive diseases, we can find:
Recessive genetic disorders, such as the ones we have mentioned above, can be directly inherited from the parents without the need for them to have symptoms, as they might simply carry the disease. Because it is a recessive disorder, the mutation must be present in both pairs of the same chromosome inherited from both parents for it to manifest in the child that carries it.
If the genetic disorder is inherited from one parent, the child will only carry the disorder, and will not manifest it. However, it can be transmitted to the next generation. Therefore, regardless of whether there are signs in the family or not, it is important to conduct a preliminary study of both parents before having a baby. This study can prevent from transmitting these diseases to the child. Additionally, sharing the results with other family members can be beneficial, as they are likely to carry the disorder.
There is a 25% chance of transmitting a recessive disease to our children, but if both parents suffer from the same mutation in a chromosome, the descendants can indeed have symptoms of this recessive genetic disorder.
In the case of a recessive disease mutation linked to the sexual chromosome X, if a woman carries the mutation, she has a 50% chance of transmitting it to her offspring. If the offspring is a male, he will manifest the symptoms in case he inherits the X chromosome from the mother that carries the disorder, as he will inherit the chromosome Y from his father. If the offspring is female, there is also a 50% chance of inheriting the mutation. However, in this case, the daughter would only carry the mutation and would not manifest the symptoms.
In some cases, the inheritance of recessive genetic diseases that manifest can affect the pregnancy and lead to miscarriage. Therefore, for couples that are undergoing fertility treatments, we recommend to undergo a genetic compatibility test in order to detect these disorders in the parents. This ensures that the children will not carry or will not manifest the disease in the future.
This test is known as the carrier panel. Thanks to this medical test, which can be performed using a blood or saliva sample, between 14 and 18 severe recessive mutations that humans carry can be predicted.
This test is recommended for anyone planning to have a baby, as it can significantly help in preventing their children from inheriting the genetic diseases they may carry. This also prevents the children from becoming carriers or manifesting the diseases. Above all, it is recommended in cases where fertility treatment is planned or in situations where there have been difficulties in carrying a pregnancy to term.
In the case of fertility treatments, this test will help ensure that the baby does not carry the genetic disorder or does not develop it as a disease in the future, as only embryos without these mutations in their chromosomes will be transferred. In IVF-Life, as a fertility clinic specialised in complex cases, we understand the importance of detecting recessive and dominant genetic diseases before undergoing any fertility treatment.
That is why our laboratories are equipped with state-of-the-art technology to perform these tests. This allows for an accurate diagnosis for personalized fertility treatment, ensuring the success of pregnancy for our patients. As a result, our pregnancy rates exceed the European average.
If you want to learn more about our team, you can contact us through your nearest fertility clinic in Alicante, Madrid, or Donostia.
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DATA CONTROLLER: IVF SPAIN ALICANTE S.L.U (hereinafter IVF-Life)
CIF: B-54973227
Postal Address: Avenida de Ansaldo, no. 13, 03540, Alicante (Alicante)
Contact with the Data Protection Officer: dpo@ivf-life-group.com
DATA CONTROLLER: Instituto Vasco de Fertilidad (hereinafter IVF-Life)
CIF: B95575874
Postal Address: Avenida de Tolosa, 71-73, 20018 Donostia / San Sebastián (Spain)
Contact with the Data Protection Officer: dpo@ivf-life-group.com
DATA CONTROLLER: IVF Spain Madrid (hereinafter IVF-Life)
CIF: B 85138113
Postal Address: C/ de Manuel de Falla, 6-8, 28036 Madrid (Spain)
Contact with the Data Protection Officer: dpo@ivf-life-group.com
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- Companies of the "IVF LIFE Group" on the legal basis of consent or legitimate interest: Instituto Vasco de Fertilidad S.L.U., with NIF B95575874 and address at Avda Tolosa, 71-73 Donostia (Gipuzkoa), and IVF Spain Madrid S.L., with NIF B85138113 and address at Calle Manuel de Falla, 6-8, 28036 Madrid.
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