What are the risks and management options for inheriting the sickle cell trait or disease?

From the Guidelines

Individuals with sickle cell trait generally lead normal lives with minimal health risks, while those with sickle cell disease require comprehensive management to reduce morbidity, mortality, and improve quality of life. Sickle cell trait carriers (who inherit one abnormal hemoglobin S gene) should be aware of their status through genetic testing, stay hydrated during exercise, avoid extreme conditions like high altitudes or dehydration, and seek genetic counseling when planning a family 1. For sickle cell disease (inheriting two abnormal genes), management includes hydroxyurea medication (typically 15-35 mg/kg/day) to reduce painful crises, regular penicillin prophylaxis for children (penicillin V 125mg twice daily under age 3, then 250mg twice daily), pneumococcal and other routine vaccinations, folic acid supplementation (1mg daily), and regular medical follow-ups with hematologists 1.

Some key points to consider in the management of sickle cell disease include:

• Blood transfusions may be needed for severe anemia or complications 1
• Bone marrow transplantation offers a potential cure but carries significant risks 1
• The disease causes red blood cells to become rigid and sickle-shaped under stress, leading to vessel blockage, pain crises, and organ damage
• Genetic counseling is essential for carriers, as each child has a 25% chance of inheriting the disease when both parents carry the trait
• Early diagnosis through newborn screening allows for prompt preventive care to reduce complications and improve quality of life 1

It is also important to note that stroke prevention is a critical aspect of managing sickle cell disease, particularly in patients with homozygous SCD, and that transcranial Doppler ultrasound can be used to identify those at high risk of stroke 1. Overall, a comprehensive management approach is necessary to reduce the risks associated with sickle cell disease and improve quality of life for affected individuals.

From the Research

Inheritance of Sickle Cell Trait

The inheritance of sickle cell trait or disease is a complex process that involves genetic counseling and management options.

• The genetic counseling has the purpose of guiding people through a conscientious and balanced decision making process regarding procreation, helping them to understand how the hereditary succession can contribute for the occurrence or risk of recurrence of genetic illnesses, as it is the case of the sickle cell anemia 2.
• The main objective of genetic counseling is to inform as many as possible of the subjects concerned and in particular couples with genetic risk, giving them all the elements they require to decide freely about their offsprings 3.

Risks Associated with Sickle Cell Trait

The risks associated with sickle cell trait or disease include clinical complications that can harm the development, the quality of life and lead to death 2.

• Sickle cell disease (SCD) is a single gene blood disorder characterised by frequent episodes of pain, chronic anaemic, acute chest syndrome, severe disease complications and lifelong debilitating multi-system organ damage 4.
• People with SCT are for the most part asymptomatic and mainly identified as through genetic testing or when they have a child with SCD 4.

Management Options

The management options for inheriting the sickle cell trait or disease include genetic counseling, prenatal genetic testing, and newborn screening.

• Genetic testing and screening programs for SCD and the sickle cell trait (SCT) are valuable for early diagnosis and management of children living with SCD, and in the identification of carriers of SCT 4.
• Prenatal genetic testing (PGT) is an option for couples who are at risk of having a child with SCD, but the uptake of PGT is low among those with sickle cell disease (SCD) 5.
• Newborn screening for SCD is preferred over prenatal and premarital/preconception testing, primarily due to its simpler decision-making process and lower risk for stigmatization 4.

Barriers and Facilitators

The barriers and facilitators of premartial genetic counseling for SCD include lack of disease-related knowledge, testing facilities, transportation, and stigma associated with the disease 6.

• A willingness to receive premarital testing for SCD exists within the community to reduce the spread of the disease and advocate for improved health-related quality of life of patients with SCD 6.
• The content and structure of a premarital genetic counseling program needs to be developed, taking into account the cultural, ethical, religious, and social dynamics surrounding genetic testing for SCD 4, 6.