Hemoglobin
Hemoglobin is a special protein found in red blood cells (red blood cells) that performs an important function in the body – carrying oxygen from the lungs to the tissues and back again. However, some people have problems with hemoglobin levels. In this situation, diagnosis and therapy is necessary.
What is hemoglobin
Hemoglobin consists of two parts: the globin (protein) part and the heme (iron) part. Genetic changes or mutations can lead to various forms of hemoglobin pathology, which impairs its function. Such a condition needs to be monitored and appropriate therapy provided.
Hemoglobin pathology
Hemoglobin abnormalities are often associated with genetic changes that affect its structure and function. One of the best known forms of hemoglobin abnormality is hemoglobinopathy, which can be inherited from parents. Some known hemoglobinopathies include:
- Spherocytosis: A genetic disorder in which red blood cells take on a spherical shape instead of the usual disc shape. This leads to increased red blood cell destruction and anemia.
- Hemoglobin C: This is a genetic change in hemoglobin that affects the structure of the globin chain. As a result of this change, red blood cells take on a sheared shape and have an increased tendency to clot and form blood clots.
- Hemoglobin E: This is another type of hemoglobin genetic alteration that is found in some regions of Southeast Asia. When hemoglobin E is present, hemoglobinopathies such as beta-thalassemia or a combination of hemoglobin E and thalassemia may develop.
Varieties of hemoglobin abnormalities
Hemoglobin pathology can be classified based on various parameters such as chain type, presence or absence of alpha or beta chain, and presence or absence of mutations. One of the most common variants is the classification based on globin chains, which includes the following forms of hemoglobin pathology:
- Alpha thalassemia – associated with a deficiency of the alpha globin chain. This can lead to a decrease in the amount of hemoglobin or a change in its structure, which can cause anemia.
- Beta-thalassemia – associated with a deficiency or alteration of the beta-globin chain. It can be divided into two main forms: beta thalassemia major (severe form) and beta thalassemia minor (mild form).
- Sickle anemia – results from the presence of a hemoglobin S mutation. This leads to the formation of abnormal forms of hemoglobin, which cause sickle-shaped deformation of red blood cells and the occurrence of various complications.
Diagnostic methods
Hemoglobin abnormalities can manifest with a variety of clinical signs including anemia, increased vulnerability to infections, chronic fatigue, jaundice, and others. Various diagnostic methods are used to make a diagnosis and determine the specific type of hemoglobin abnormality:
- Blood tests: Examination of hemoglobin, red blood cell count, iron levels and other indicators helps to identify the presence of anemia and suspected hemoglobin abnormalities;
- Hemoglobin electrophoresis: This method can separate the different forms of hemoglobin and determine the presence of abnormal hemoglobins;
- Genetic tests: Allows to detect the presence of mutations in the hemoglobin gene and determine the specific type of pathology.
Diagnosis of hemoglobin abnormalities includes blood tests, hemoglobin electrophoresis, and genetic tests. Understanding the pathology helps in providing early diagnosis and effective management of these diseases, which helps in improving the prognosis and quality of life of patients.