Hereditary spherocytosis is a genetic disease characterized by changes in the red blood cell membrane, which favors its destruction, and is therefore considered a hemolytic anemia. Changes in the membrane of red blood cells make them smaller and less resistant than usual, being easily destroyed by the spleen.
Spherocytosis is a hereditary disease, which accompanies the person from birth, however, it can progress with anemia of varying severity. Thus, in some cases there may be no symptoms and in others, pallor, tiredness, jaundice, enlarged spleen and developmental changes, for example, may be noticed.
Although there is no cure, spherocytosis has treatment, which must be guided by a hematologist, and folic acid replacement may be indicated and, in the most severe cases, removal of the spleen, which is called splenectomy, in order to control the disease.
What causes spherocytosis
Hereditary spherocytosis is caused by a genetic change that results in a change in the quantity or quality of proteins that form the membranes of red blood cells, popularly known as red blood cells. Changes in these proteins cause the loss of rigidity and protection of the membrane of red blood cells, which makes them more fragile and with a smaller size, despite the content being the same, forming smaller red cells, with rounded aspect and more pigmented.
Anemia arises because spherocytes, as red cells deformed in spherocytosis are called, are usually destroyed in the spleen, especially when changes are important and there is loss of flexibility and resistance to pass through the microcirculation of blood from this organ.
Main symptoms
Spherocytosis can be classified as mild, moderate or severe. Thus, people with mild spherocytosis may not have any symptoms, while those with moderate to severe spherocytosis may have varying degrees of signs and symptoms such as:
- Persistent anemia; Paleness; Tiredness and intolerance to physical exercise; Increased bilirubin in the blood and jaundice, which is the yellow coloration of the skin and mucous membranes; Formation of bilirubin stones in the gallbladder; Increased spleen size.
In order to diagnose hereditary spherocytosis, in addition to the clinical evaluation, the hematologist may order blood tests such as complete blood count, reticulocyte count, bilirubin measurement and peripheral blood smear that demonstrates changes suggestive of this type of anemia. The examination for osmotic fragility is also indicated, which measures the resistance of the red cell membrane.
How the treatment is done
Hereditary spherocytosis has no cure, however, the hematologist may recommend treatments that can alleviate the worsening of the disease and symptoms, according to the patient's needs. In the case of people who do not show symptoms of the disease, no specific treatment is necessary.
Folic acid replacement is recommended because, due to the increased breakdown of red blood cells, this substance is more necessary for the formation of new cells in the marrow.
The main form of treatment is the removal of the spleen by surgery, which is usually indicated in children over 5 or 6 years of age who have severe anemia, such as those who have a hemoglobin below 8 mg / dl in the blood count, or below 10 mg / dl if there are important symptoms or complications such as gallstones. Surgery can also be done on children who have developmental delay due to the disease.
People who undergo spleen removal are more likely to develop certain infections or thrombosis, so vaccines, such as pneumococcal, are needed, in addition to the use of ASA to control blood clotting. Check out how the spleen removal surgery and the necessary care is performed.
