Sickle Cell Anemia

Sickle cell anemia is a hereditary blood disorder that arises due to a defect in hemoglobin. The disease is caused by a genetic mutation that leads to changes in the hemoglobin molecules of red blood cells. This pathological condition is most commonly found among Mediterranean and African populations, but it can also be present in other regions. Sickle cell anemia is the most common of the hemoglobinopathies, with the abnormal hemoglobin, known as HbS, replacing normal hemoglobin in the body.

The inheritance of the disease is autosomal recessive, meaning that sickle cell anemia develops only in individuals who inherit the abnormal gene from both parents. Those who inherit the defective gene variant from only one parent are generally asymptomatic but become carriers, thereby passing the disorder on to their offspring. Interestingly, heterozygous carriers have a greater resistance to malaria infection, which also plays a role in the geographical distribution of the disease.

The genetic background of sickle cell anemia

Sickle cell anemia results from a pathological change in the hemoglobin of red blood cells. The primary function of red blood cells is to transport oxygen from the lungs to the rest of the body. In sickle cell anemia, the HbS molecule appears in larger quantities compared to normal hemoglobin, causing red blood cells to become sickle-shaped. This shape not only reduces the oxygen-carrying capacity but also obstructs blood flow in small vessels, leading to oxygen deprivation.

The HbS molecule not only replaces normal hemoglobin but also contributes to the premature breakdown of red blood cells, resulting in hemolysis. As a consequence, patients suffer from anemia, and the blood supply to various organs is diminished. The complications of the disease include blockages in small blood vessels, which can cause infarctions in different organs. Thus, sickle cell anemia is a complex disease that carries numerous complications and significantly impacts the quality of life of patients.

Symptoms and complications of sickle cell anemia

The most characteristic symptoms of sickle cell anemia are the consequences of anemia and hemolysis. Patients suffering from the homozygous form typically experience signs of the disease from infancy, around six months of age. Common complaints in children include fatigue, weakness, headaches, shortness of breath, and loss of appetite due to anemia. As children grow, blockages that occur due to decreased blood supply to various organs can lead to further complications.

Consequences of hemolysis may include jaundice, abdominal pain, fever, spleen enlargement, and limb swelling. Patients often suffer from enlargement of the spleen and liver, leading to decreased blood production and reduced defense against infections. Crises during which symptoms suddenly intensify can be accompanied by severe pain and organ damage. As the disease progresses, patients may also experience developmental delays, typically showing shorter stature and later onset of puberty compared to their peers.

Diagnosis and treatment of sickle cell anemia

The diagnosis of sickle cell anemia is based on clinical symptoms and family history. Following a physical examination, routine laboratory blood tests help establish the presence of anemia and hemolysis. Hemoglobin electrophoresis allows for the precise determination of HbS, while microscopic examinations are used to identify the characteristic sickle cells.

The most important treatment for the disease is stem cell transplantation, which serves as the only curative solution for homozygous sickle cell patients. However, this requires a suitable donor and the patient’s stable condition, resulting in a low proportion of patients awaiting transplantation. Symptomatic treatment is necessary for managing crises, which includes pain relief, oxygen therapy, fluid replacement, and transfusions as needed.

For patients living with sickle cell anemia, proper prevention and care are extremely important. Avoiding dehydration, administering appropriate vaccinations, and promptly treating infections are fundamental to improving the quality of life for patients. The necessity of folic acid supplementation and the use of other medications are also important considerations during treatment.