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Diagnosis of hereditary spherocytosis (Minkowski-Schoffar disease)
Last reviewed: 04.07.2025
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The diagnosis is confirmed by family history and a number of laboratory tests.
Laboratory data
The hemogram reveals normochromic hyperregenerative anemia of varying severity. The reticulocyte count depends on the severity of the anemia and the period of the disease and ranges from 50-60 to 500-600%; normocytes may appear. Morphological examination of a red blood smear reveals characteristic morphological features: along with normal erythrocytes, there are microspherocytes - small, intensely stained cells without the central clearing characteristic of normal erythrocytes. The number of microspherocytes can range from 5-10% to an absolute majority. It has been established that the greater the number of microspherocytes, the more intense the hemolysis. During a hemolytic crisis, leukocytosis with a neutrophilic shift and an accelerated ESR may be observed.
Biochemically, indirect hyperbilirubinemia is observed, the degree of which depends on the severity of the hemolytic crisis. The level of haptoglobin decreases.
In the sternal puncture there is hyperplasia of the erythroid lineage, the leukoerythroblastic ratio is reduced to 1:2, 1:3 (versus 4:1 in the norm) due to the cells of the erythroid lineage.
After the patient has recovered from the hemolytic crisis, in the period of hemolysis compensation, erythrocytometry is performed to confirm the diagnosis by plotting the Price-Jones curve and determining the osmotic resistance of erythrocytes. Patients with hereditary microspherocytosis are characterized by a decrease in the diameter of erythrocytes - the average diameter of erythrocytes is less than 6.4 μm (the diameter of normal erythrocytes is 7.2-7.9 μm) and a shift in the erythrocytometric Price-Jones curve to the left. A pathognomonic sign is a change in the osmotic resistance of erythrocytes. Normal values are: for minimal resistance (the onset of hemolysis) in a 0.44% NaCl solution and for maximum (complete hemolysis) - in a 0.32-0.36% NaCl solution. A decrease in the minimum resistance of erythrocytes is typical for the disease, that is, hemolysis begins in a 0.6-0.65% NaCl solution. The maximum osmotic resistance may even be slightly increased - in a 0.3-0.25% NaCl solution.
Differential diagnosis
It is performed in the absence of indications of a hereditary nature of anemia, as well as in atypical cases.
In newborns, hemolytic disease, fetal hepatitis, biliary atresia, symptomatic jaundice in sepsis, and intrauterine infections (cytomegalovirus, toxoplasmosis, herpes) are excluded.
In infancy and old age, it is necessary to exclude viral hepatitis, non-spherocytic hemolytic anemia, and autoimmune hemolytic anemia.
In older age, it is also differentiated from hereditary conjugation jaundice (Gilbert's syndrome and others), chronic hepatitis, and biliary cirrhosis of the liver.
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