Hereditary spherocytosis is a genetic disease characterized by changes in the membrane of red blood cells, which favors its destruction, so it is considered 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 an inherited disease that accompanies the person from birth, however, it can progress with anemia of varying severity, so in some cases there may be no symptoms and in other paleness, fatigue, jaundice, enlarged spleen and changes in development., for example, it can be noticed.
- Although there is no cure.
- Spherocytosis has a 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.
- Called splenectomy.
- To control the disease.
Hereditary spherocytosis is caused by a genetic change that causes a change in the quantity or quality of the proteins that form the membranes of red blood cells, commonly known as red blood cells.Changes in these proteins result in loss of stiffness and membrane protection.red blood cells, making them more fragile and smaller in size, despite the same content, forming smaller, rounded and more pigmented red blood cells.
Anemia occurs because spherocytes, as deformed red blood cells are called in spherocytosis, are usually destroyed in the spleen, especially when the changes are large and there is a loss of flexibility and resistance to pass through the blood microcirculation of this organ.
Spherocytosis can be classified as mild, moderate or severe; for example, people with mild spherocytosis may have no symptoms, while those with moderate to severe spherocytosis may have varying degrees of signs and symptoms, including:
For the diagnosis of hereditary spherocytosis, in addition to clinical evaluation, the hematologist may request blood tests such as blood formula, reticulocyte count, bilirubin measurement, and peripheral blood smears showing suggestive changes in this type of anemia.The osmotic fragility test, which measures the membrane resistance of red blood cells, is also indicated.
Hereditary spherocytosis has no cure, however, the hematologist may recommend treatments that can alleviate the aggravation of the disease and symptoms, depending on the patient’s needs.For people who do not have symptoms of the disease, no specific treatment is necessary.
Folic acid replacement is recommended because, due to increased degradation of red blood cells, this substance is more necessary for the formation of new cells in the bone 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 with a hemoglobin less than 8 mg / dL in the blood formula., or less than 10 mg/dL in case of major symptoms or complications such as gallstones.Surgery may also be performed in children who are delayed in development due to the disease.
People who have their spleen are more likely to develop certain infections or thrombosis, so vaccines, such as pneumococcals, are needed, in addition to using AAS to control blood clotting.Find out how spleen removal surgery and necessary care is done.