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Diagnosis of hereditary spherocytosis (Minkowski-Shoffard disease)
Last reviewed: 23.04.2024
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The diagnosis is confirmed by a family history and a number of laboratory studies.
Laboratory data
In the hemogram, normochromic hyperregenerative anemia of varying degrees is found. The content of reticulocytes depends on the severity of anemia and the period of the disease and ranges from 50-60 to 500-600%; can appear normocytes. Morphological examination of the red blood smear reveals characteristic morphological features: along with normal erythrocytes, there are microspherocytes - small, intensely colored cells without a central enlightenment characteristic of normal red blood cells. The number of microspherocytes can range from 5-10% to an absolute majority. It was found that the more the number of microspherocytes, the more intensive the hemolysis. During the hemolytic crisis, leukocytosis with neutrophil shift, acceleration of ESR can be noted.
Biochemically observed indirect hyperbilirubinemia, the degree of which depends on the severity of hemolytic crisis. The level of haptoglobin decreases.
In the sternal point there is hyperplasia of the erythroid sprout, the leycoerythroblast ratio is reduced to 1: 2, 1: 3 (against 4: 1 in norm) due to the cells of the erythroid germ.
After the patient leaves the hemolytic crisis during the hemolysis compensation period, erythrocytometry is performed to establish the diagnosis of Price-Jones curve and determine the osmotic resistance of red blood cells. Patients with hereditary microspherocytosis are characterized by a decrease in the diameter of erythrocytes-an average erythrocyte diameter less than 6.4 microns (normal erythrocyte diameter is 7.2-7.9 microns) and a displacement of the Price-Jones erythrocytometric curve to the left. A pathognomonic sign is a change in the osmotic resistance of red blood cells. Normal indices are: for a minimal resistance (the beginning of hemolysis) in a 0.44% solution of NaCl and for a maximum (complete hemolysis) in 0.32-0.36% NaCl solution. Typical for the disease is a decrease in the minimum resistance of red blood cells, that is hemolysis begins in a 0.6-0.65% solution of NaCl. The maximum osmotic resistance can be even slightly elevated - in a 0.3-0.25% solution of NaCl.
Differential diagnosis
Conducted in the absence of evidence on the hereditary nature of anemia, as well as in atypical cases.
In newborns, hemolytic disease, fetal hepatitis, atresia of bile ducts, symptomatic jaundice during sepsis, intrauterine infections (cytomegalia, toxoplasmosis, herpes) are excluded.
In the breast and older age, it is necessary to exclude viral hepatitis, nesferocytic hemolytic anemia, autoimmune hemolytic anemia.
In the older age also differentiate from hereditary conjunctive jaundice (Gilbert's syndrome and others), chronic hepatitis, biliary cirrhosis.
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