How can spherocytosis be characterized?

The spherocytosis is a hereditary disease that belongs to the group of hemolytic anemias and primarily arises due to abnormalities in the structure of red blood cells. This condition is particularly prevalent in Europe, where it is the most common form of hereditary red blood cell deformities. Spherocytosis is associated with defects in the membrane of red blood cells, which leads to changes in the shape of the blood cells and can cause various health problems.

The underlying cause of the disease is the defect in two main components of the red blood cell membrane, spectrin and ankyrin. These defects lead to alterations in the hydration and sodium ion content of the red blood cells, causing the normally disc-shaped cells to transform into a spherical shape. The spherical red blood cells, known as spherocytes, are less flexible, thus getting trapped in smaller blood vessels, particularly in the spleen, where they are destroyed. This process leads to a decrease in the lifespan of red blood cells and the development of anemia.

The occurrence and inheritance of spherocytosis

The occurrence of spherocytosis varies among different populations, but it is generally said to be most common in individuals with a family history of the disease. Based on the pattern of inheritance, the disease can be classified into two main types. The spectrin defect is inherited in an autosomal recessive manner, meaning that both parents must pass on a defective chromosome for the disease to manifest. In contrast, the ankyrin defect exhibits autosomal dominant inheritance, where it is sufficient for only one parent to carry the defective gene for the child to be affected.

The inheritance of spherocytosis is thus an important aspect when making a diagnosis, as the family medical history can assist doctors in identifying the disease. Affected individuals often do not experience symptoms until the disease worsens, making early diagnosis challenging.

Symptoms and diagnosis of spherocytosis

The symptoms of spherocytosis encompass a wide spectrum, ranging from asymptomatic states to severe anemia. In many cases, due to the disease already present in the family, suspicion of spherocytosis may arise when symptoms appear. The most common symptoms include anemia, which can cause fatigue, weakness, pale skin, and low blood pressure. Additionally, jaundice may develop as a result of hemolysis, which refers to the yellowish discoloration of the skin and eyes.

During the diagnosis, it is important to review the patient’s medical history and family history. Laboratory tests may show no significant changes in the size of red blood cells; however, the distribution curve of red blood cells may be increased. Signs of hemolysis, such as elevated bilirubin levels, LDH values, and low haptoglobin levels, can also aid in confirming the diagnosis. The presence of spherocytes can be demonstrated in a peripheral blood smear, while a bone marrow examination may show increased red blood cell production.

Treatment and course of spherocytosis

Currently, there is no causal treatment for spherocytosis, as the genetic abnormalities cannot be corrected. However, if the patient’s anemia is severe, oxygen therapy and the administration of red blood cell concentrates may be necessary. For individuals with spherocytosis, especially those who experience frequent hemolytic crises, surgical removal of the spleen may also be recommended. This intervention does not cure the disease but can significantly reduce the occurrence of crisis states.

The course of the disease varies, and the degree of severity generally depends on inheritance. Affected individuals often experience periods without symptoms, which can be interrupted by episodes of severe anemia and hemolytic crises. Complications may include infections and gastrointestinal problems due to increased stone formation. Regular red blood cell transfusions may also lead to iron accumulation, which can harm organs in the long term.