Will individuals with sickle cell disease (SCD) who undergo gene therapy pass the disease to their offspring?

From the Guidelines

Gene therapy for sickle cell disease does not prevent patients from potentially passing the disease to their offspring. Current gene therapies modify the patient's own blood stem cells but do not alter their reproductive cells (eggs or sperm) 1. This means that the genetic mutation causing sickle cell disease remains in their reproductive cells and can still be passed to children.

Key Points to Consider

• The inheritance pattern for sickle cell disease is autosomal recessive, requiring two copies of the mutated gene for the disease to manifest.
• If a person with treated sickle cell disease has children with someone who carries at least one copy of the mutation, there is still a risk of having children with the disease or who are carriers.
• Patients who have undergone gene therapy should still consider genetic counseling before having children to understand the risks of transmission and explore options like preimplantation genetic testing if they wish to prevent passing the condition to their offspring.

Gene Therapy and Sickle Cell Disease

While gene therapy has shown promise in treating sickle cell disease, its effects on the transmission of the disease to offspring are limited 1. The use of lentiviral vectors to transmit complex globin expression cassettes has been explored, but the focus has been on treating the disease in the patient, not on preventing its transmission to future generations.

Implications for Patients and Families

It is essential for patients with sickle cell disease who are considering gene therapy to understand the implications for their reproductive health and the potential risks of transmission to their offspring. Genetic counseling can provide valuable guidance and support in making informed decisions about family planning and reproductive options.

From the Research

Gene Therapy and Sickle Cell Disease

• Gene therapy for sickle cell disease (SCD) has shown promise in treating the disease by targeting the underlying cause of SCD 2, 3, 4.
• The goal of gene therapy is to provide a functional cure for SCD, which can be achieved through various approaches, including gene addition, gene editing, and gene modification 2, 3, 5, 4, 6.

Inheritance of Sickle Cell Disease

• SCD is an inherited blood condition resulting from abnormal hemoglobin production 4.
• The disease is caused by a single point mutation in the HBB gene, which codes for the beta-globin subunit of hemoglobin 2, 5.
• Gene therapy aims to correct this mutation or modify the gene to prevent sickle hemoglobin polymerization 2, 5, 4, 6.

Passing the Disease to Offspring

• There is no direct evidence in the provided studies to suggest that individuals with SCD who undergo gene therapy will or will not pass the disease to their offspring.
• However, gene therapy aims to correct the genetic mutation that causes SCD, which could potentially prevent the disease from being passed on to future generations 5, 6.
• Further research is needed to determine the long-term effects of gene therapy on the inheritance of SCD.