Sickle Cell Disease: Most Effective Dietary Supplements

Sickle cell disease is a monogenic genetic disorder with autosomal recessive transmission. It results from a point mutation in the sixth codon of the β-globin gene, leading to the production of an abnormal hemoglobin known as 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)h

Epidemiology

Sickle cell disease is the most common genetic disease in France and worldwide. It is particularly prevalent in sub-Saharan Africa, the Mediterranean region (Maghreb, Southern Italy, Greece), and certain regions of the Americas due to African population migration.

Pathophysiology

The β-globin mutation leads to the production of HbS, which, in deoxygenated conditions, polymerizes and deforms erythrocytes. These sickle-shaped red blood cells are rigid and adhere easily to blood vessel walls, causing vascular obstructions and chronic hemolysis. Vaso-occlusive crises resulting from these obstructions are responsible for most of the clinical symptoms.

Symptoms

Symptoms of sickle cell disease vary with the severity of the disease and can include: • Chronic hemolytic anemia: due to the rapid destruction of sickle-shaped red blood cells. • Vaso-occlusive crises: episodes of intense pain caused by blood vessel obstruction. • 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 involvement.

Treatment

Treatment for 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), thus reducing the formation of sickle-shaped red blood cells. • Blood transfusions: used to treat severe anemia and prevent strokes. • Prophylactic antibiotics: to prevent infections. • Bone marrow transplant: can be curative but is reserved for severe cases due to its risks.

Prognosis

Thanks to treatment advances and improved care, the life expectancy of patients with sickle cell disease has significantly improved, reaching an average of 50 years in developed countries. However, the quality of life remains affected by frequent complications and painful crises.