Sickle cell disease: most effective dietary supplements

Sickle cell disease is a single-gene genetic disorder with autosomal recessive inheritance. It results from a point mutation in the sixth codon of the β-globin gene, leading to the production of an abnormal hemoglobin called hemoglobin S (HbS). Under low-oxygen conditions, HbS polymerizes, deforming red blood cells into a sickle shape, hence the name of the disease (drepanos = sickle in Greek).​

Epidemiology

Sickle cell disease is the most common genetic disorder in France and worldwide. It is particularly prevalent in sub-Saharan Africa, around the Mediterranean basin (Maghreb, southern Italy, Greece), and in some regions of the Americas due to migration of African populations.

Pathophysiology

The β-globin mutation leads to the production of HbS, which, under deoxygenated conditions, polymerizes and deforms erythrocytes. These sickled red blood cells are rigid and readily adhere to the vessel walls, causing vascular obstructions and chronic hemolysis. The vaso-occlusive crises resulting from these obstructions are responsible for the majority of clinical symptoms​​.

Symptoms

The symptoms of sickle cell disease vary depending on disease severity and may include: • Chronic hemolytic anemia : due to the rapid destruction of sickled red blood cells. • Vaso-occlusive crises : episodes of severe pain caused by blockage of blood vessels. • Frequent infections : due to reduced or absent splenic function. • Acute chest syndrome : a severe complication involving chest pain, fever, and pulmonary infiltrates. • Strokes : resulting from vascular occlusions in the brain​​.

Complications

Complications of sickle cell disease can be acute or chronic and include: • Leg ulcers • Sickle cell retinopathy • Avascular necrosis of the hip • Nephropathy • Chronic lung disease​.

Treatment

Treatment of sickle cell disease aims to manage symptoms, prevent complications, and improve patients' quality of life: • Hydroxyurea : a medication that increases the production of fetal hemoglobin (HbF), thereby reducing the formation of sickled red blood cells. • Blood transfusions : used to treat severe anemia and prevent strokes. • Prophylactic antibiotics : to prevent infections. • Bone marrow transplantation : can be curative but is reserved for severe cases due to its risks​.

Prognosis

Thanks to advances in treatments and improved care, life expectancy for patients with sickle cell disease has improved significantly, averaging around 50 years in developed countries. However, quality of life remains affected by frequent complications and painful crises.