The disease of thalassemia
The hemoglobin, a protein found in red blood cells, plays a crucial role in the body’s oxygen supply. The level and function of hemoglobin are key to ensuring that tissues receive adequate oxygen, as any disruption in hemoglobin formation can lead to anemia and hypoxic conditions. The macromolecules that make up hemoglobin have a complex structure, which includes a heme ring containing iron and four globin chains, two of which are alpha and two are non-alpha isoforms.
Among the disorders of hemoglobin formation, thalassemia plays a prominent role, a group of hereditary diseases that affect the globin chain of hemoglobin. This disease complicates the normal production of hemoglobin, leading to anemia. There are different forms of thalassemia, and while the more severe cases are rare, the milder forms can be relatively common. The name of the disease derives from the Greek word for “sea,” as it primarily occurs in the Mediterranean region.
Types of Thalassemia
There are two main forms of thalassemia: beta-thalassemia and alpha-thalassemia. Beta-thalassemia is the most common, especially in countries around the Mediterranean Sea. This disease is caused by reduced production or complete absence of the beta chains of hemoglobin. The most severe form, Cooley’s anemia, occurs when both genes responsible for hemoglobin formation are affected, resulting in severe anemia, splenomegaly, and increased bone marrow activity. Consequently, the structure of the bones may also change, leading to various deformities. Due to the need for blood transfusions, iron can accumulate in the body, leading to heart problems and early death.
The milder form of beta-thalassemia, known as minor, involves the involvement of one gene. Here, anemia typically does not require blood transfusions, and iron accumulation does not occur, allowing the heart to remain healthy. However, splenomegaly and bone deformities can still appear, albeit to a lesser extent.
Alpha-thalassemia is rarer and primarily occurs in Southeast Asia. This form is characterized by reduced production or absence of the alpha chains of hemoglobin. The worst form can lead to intrauterine death, while the minor form is associated with mild anemia and splenomegaly.
Diagnosis and Symptoms of the Disease
The diagnosis of thalassemia often occurs incidentally, for example during routine blood tests. A complete blood count allows for differentiation of the disease from other types of anemia, such as iron deficiency anemia. Peripheral blood smears and hemoglobin electrophoresis also play important roles in establishing the diagnosis. In beta-thalassemia major, symptoms such as pallor, irritability, and growth retardation appear as early as infancy, around six months of age.
Early detection of the disease is crucial for appropriate treatment and the prevention of complications. Mild cases often do not require specific treatment, while more severe forms necessitate multiple medical interventions.
Treatment Options for Thalassemia
Most individuals suffering from thalassemia are affected in a mild form and do not require specific treatment. However, more severe cases require lifelong treatment, which includes regular blood transfusions. These interventions ensure adequate oxygen supply to tissues and help prevent abnormal blood formation.
To reduce iron overload resulting from blood transfusions, various iron-chelating infusions, such as desferrioxamine, may become necessary. Additionally, folic acid supplementation may also be part of the treatment protocol, as it contributes to maintaining blood formation.
In very severe cases, when treatments are insufficient, bone marrow transplantation or surgical removal of the spleen may be considered. These interventions aim to prevent the severe complications of the disease and improve the quality of life for patients. The complex treatment of thalassemia and appropriate medical supervision are essential for the patient’s well-being and long-term health.
