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Question

Hello doctor,

I am a 50-year-old female with alpha-1 antitrypsin deficiency and recently became a grandmother. Both of my children tested as carriers years ago, but neither has symptoms. Now I am wondering about the next generation.

Can alpha-1 antitrypsin deficiency be passed on to a grandchild if my children are carriers? Genetics has always confused me, and I want to understand whether my grandchildren should eventually be tested or if the risk remains very low unless both parents carry the gene.

Kindly help.

Answer 1

Hello,

Welcome to icliniq.com.

I understand your concern.

It is very understandable to have questions about how alpha-1 antitrypsin deficiency may affect future generations. Alpha-1 antitrypsin deficiency is an inherited genetic condition, so the gene can be passed through families. If both of your children are carriers, they can each pass the altered gene to their own children.

However, a grandchild would usually only develop the deficiency if they inherited an altered gene from both parents. If the other parent is not a carrier, the child may be a carrier but is unlikely to have the disease itself.

Because of this, the level of risk depends greatly on whether the grandchild's other parent carries an alpha-1 antitrypsin gene variant. Many experts recommend that family members of affected individuals discuss genetic testing with their healthcare provider or a genetic counselor, especially as they become adults and can make informed decisions about testing.

Since your children are healthy carriers, the risk of serious disease in grandchildren is generally low unless both parents carry a relevant gene variant, but discussing the family history with their doctor is still a sensible step.

I hope you are satisfied with my answer.

For further queries, you can consult me at iCliniq.

Thank you.