Sickle cell disease is a group of inherited conditions caused by abnormal hemoglobin in which both beta chains are affected, leading to sickle-shaped red blood cells. This results in a shorter lifespan for the red blood cells and can cause blockages in blood vessels, which reduces blood flow and oxygen supply to organs and tissues.

Signs and symptoms cell disease typically appear at approximately 5 to 6 months of age and include anemia, fatigue, irritability, jaundice, and pain crises due to obstructed blood flow. The severity and type of symptoms can vary among individuals and may change over time; they can affect growth and increase susceptibility to infections.

Sickle cell disease (SCD) and sickle cell trait (SCT) can be diagnosed before birth through prenatal tests like chorionic villus sampling and amniocentesis, as well as after birth or in adulthood via a simple blood test. In the U.S., newborn screening for SCD is conducted in all states, and prospective parents can also undergo blood tests to determine whether they carry the sickle cell gene.

The main medical treatments for sickle cell disease include bone marrow and stem cell transplantation, which are the only cures but carry significant risks and require a close donor match. Common medications that are prescribed include antibiotics, hydroxyurea, voxelotor, crizanlizumab-tmc, L-glutamine, painkillers, and blood transfusions for severe cases.

Folic acid has been prescribed for sickle cell disease to alleviate anemia symptoms, but recent studies show that it does not significantly affect hemoglobin levels or related complications. Other supplements like zinc sulfate and L-arginine show potential benefits, but further research is needed, and individuals should consult their doctors before starting any supplementation.

Diet can significantly affect children with sickle cell disease because they often experience lower weight and body mass index due to reduced appetite and higher energy expenditure. Inadequate nutrient intake (particularly of proteins, lipids, carbohydrates, and essential micronutrients) is associated with worsened symptoms and increased hospitalization, which highlights the importance of dietary attention during growth phases.

Research studies are exploring the use of marijuana for pain relief in sickle cell disease (SCD), but the results are inconclusive, and more studies are needed. Additionally, genetic therapies are being tested in clinical trials, though none are currently FDA approved, and maintaining hydration and vaccinations is important for managing SCD.

Sickle cell disease is an inherited condition caused by inheriting a mutated form of the HBB gene from both parents, which leads to the production of hemoglobin S. This autosomal recessive inheritance means that symptoms occur only when both copies of the gene are altered, whereas people with one altered gene typically do not show symptoms and are referred to as having sickle cell trait.