All cells in our body are surrounded by cell membranes that protect them from the external environment and provide transport, receptor, and many other functions. The structure of cell membranes is usually represented by a double layer of lipids and proteins that permeate the lipid layer or are on its surface.
There are diseases in which the structure of certain cell membranes is impaired, such as hereditary microspherocytosis, which we will discuss below.
How does hereditary microspherocytosis manifest itself?
Hereditary microspherocytosis is a genetically determined pathology in which the structure of the cell membranes of red blood cells, erythrocytes, is disrupted, leading to their rapid destruction. Statistics show that the incidence of this disease is about 1 per 3-4 thousand people. Hereditary microspherocytosis can be detected at any age.
More often than not, the symptoms increase gradually. The severity of the accompanying clinical picture will depend on whether the bone marrow hematopoiesis manages to compensate for the accelerated destruction of red blood cells.
In most cases, the first sign is jaundice staining of the skin and visible mucous membranes.
The anemic syndrome necessarily joins. Clinically, it is manifested by pale skin, weakness and somnolence, and occasional dizziness. Splenomegaly is detected in almost all patients, which causes the presence of complaints of a pulling or aching pain in the left subcostal area. In some cases, liver enlargement is detected, but it is usually insignificant.
A frequent complication of hereditary microspherocytosis is cholelithiasis. In 2022, scientists from the Research Institute of Hematology and Transfusiology of the Federal Medical and Biological Agency published a paper in which they found that cholelithiasis can be detected as early as age 2-4 years, and by age 18, its incidence increases, reaching 30%.
Another frequently diagnosed and sufficiently dangerous complication is hemolytic crisis, manifested by increasing jaundice intensity, vomiting, joint and muscle pain, sudden enlargement of the spleen, and so on.
Treatment tactics for hereditary microspherocytosis
In the asymptomatic or mild course of hereditary microspherocytosis, an observational tactic is recommended. In the case of moderate and severe forms of the disease, the patient should be hospitalized.
If the hemoglobin level has dropped to 70 grams per liter or less, a transfusion of red blood cell mass is performed; to 50 grams per liter or less – whole blood.
To prevent crises, patients are indicated to take folic acid.
The main method of treatment is surgery to remove the spleen. It is indicated in people with frequent crises, a significant decrease in hemoglobin levels, and a marked increase in bilirubin in the blood.
Sources:
- Hereditary spherocytosis – About the Disease
- https://my.clevelandclinic.org/health/diseases/23058-hereditary-spherocytosis
- Inherited hemolytic anemia: a possessive beginner’s guide
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