Living with sickle cell disease (SCD) can influence various aspects of life, including relationships and family planning. It’s important to have open and honest conversations about the condition, especially when it comes to decisions about having children, understanding genetic risks, and planning for medical care during a sickle cell crisis. In the UK, there are resources available to support individuals and families affected by SCD, helping to navigate these important conversations and decisions.

Genetic Testing and Screening

Genetic testing and screening are crucial for understanding the risk of passing sickle cell disease onto future children. Sickle cell is inherited in an autosomal recessive manner, meaning both parents must carry the sickle cell trait (or have sickle cell disease) for the child to inherit the condition.

• Carrier screening: If either partner has sickle cell trait or a family history of sickle cell, genetic testing can determine if they carry the gene for sickle cell disease. This test is typically done through a simple blood test.
• Genetic counselling: If both partners are carriers, genetic counselling is recommended to discuss the risks of having a child with sickle cell disease and explore options for family planning.

Where to Get Genetic Testing and Screening in the UK

In the UK, genetic testing and screening for sickle cell disease can be accessed through the NHS or private healthcare providers. The NHS offers pre-conception carrier screening as part of routine antenatal care for those with a family history of sickle cell disease or related conditions.

1. NHS Sickle Cell and Thalassaemia Screening Programme: The NHS provides free screening for sickle cell disease for pregnant women and those planning to get pregnant. The screening process involves a simple blood test to check for sickle cell disease or the sickle cell trait.
2. Genetic Counselling Services: Genetic counsellors are available to discuss test results, explain the risks to future children, and help make informed decisions. These services are available through hospitals, clinics, and specialist sickle cell centres in the UK.

Having Conversations Early About Sickle Cell Disease

It’s important to have early, open discussions about sickle cell disease in relationships, especially when considering starting a family. Here are some key topics to address:

• Impact of sickle cell disease on pregnancy: Women with sickle cell disease may experience complications during pregnancy, including higher risk of infections, anemia, and pre-eclampsia. Understanding these risks and having a treatment plan in place is crucial.
• Family planning: If both partners are carriers of the sickle cell trait, they may want to explore options such as prenatal testing (amniocentesis or chorionic villus sampling) to determine if the baby will inherit sickle cell disease.
• Treatment plans for sickle cell crises: It’s important to discuss how sickle cell crises will be managed in the future, including how to seek help, what treatments are needed, and ensuring both partners understand the symptoms and what to do in an emergency.

Having Children with Sickle Cell Disease

Deciding to have children when one or both parents have sickle cell disease or carry the sickle cell trait requires careful consideration. Family planning options might include:

• Pre-implantation genetic diagnosis (PGD): For couples with a known risk of passing on sickle cell disease, PGD can be used in conjunction with in-vitro fertilisation (IVF) to screen embryos before implantation, ensuring that the child will not inherit the condition.
• Prenatal testing: Testing can be done during pregnancy to check if the baby has inherited sickle cell disease. This allows parents to make informed decisions about treatment and care.

While having a child with sickle cell disease presents challenges, many people with SCD go on to have healthy families and raise children, with proper medical management and support.

Treatment Plans During a Sickle Cell Crisis

In the event of a sickle cell crisis, it’s essential for partners and family members to know how to respond. Having a clear treatment plan and communicating these plans early on can provide reassurance during an emergency.

• Recognizing a crisis: Symptoms of a sickle cell crisis can include sudden pain, fatigue, swelling, and difficulty breathing. In cases of severe pain or other emergency symptoms, it’s important to seek medical help immediately.
• Emergency care: Individuals with sickle cell disease may need hospitalisation during a crisis to receive pain management, hydration, and sometimes blood transfusions.
• Ongoing care: It’s helpful for families to have an ongoing care plan, including knowing which hospitals or clinics specialise in sickle cell care, understanding the treatments that might be needed, and having access to necessary medications.

Support and Resources

• NHS services: Sickle cell disease is supported by a network of specialist clinics and sickle cell centres across the UK. These clinics provide comprehensive care, including genetic counselling, treatment for crises, and guidance on managing life with sickle cell disease.
• Sickle Cell Society: The Sickle Cell Society provides information, support, and advocacy for individuals and families living with sickle cell disease. They offer resources on genetic testing, support groups, and services for people living with the condition.
• Genetic Counselling: NHS hospitals and clinics provide genetic counselling services to help understand the implications of sickle cell disease and make informed decisions about family planning.

Having a clear understanding of genetic risks, treatment plans, and family planning options is important for building a solid foundation for the future. With the right support and resources, couples and families can navigate the complexities of living with sickle cell disease, ensuring the health and well-being of everyone involved.