Misdiagnosis of two cases of hereditary spherocytosis in a family and review of published reports

Background: Hereditary spherocytosis is usually diagnosed based on a combination of clinical and family histories, physical examination, and laboratory data. Milder or atypical cases can be difficult to diagnose.

Methods: We report one case each of mild and moderate hereditary spherocytosis whose diagnoses were made by the First Affiliated Hospital, Guangxi Medical University in China.

Results: In case 1, laboratory test results were as follows: hemoglobin 81.40 g/l, mean corpuscular hemoglobin concentration 339.00 g/l, mean corpuscular volume 82.88 fl, reticulocyte count 19%, mean sphered corpuscular volume 71.66 fl, total bilirubin 57.60 μmol/l, and blood smears showed increased spherocytosis. In case 2, laboratory test results were as follows: hemoglobin 133.10 g/l, mean corpuscular hemoglobin concentration 358.60 g/l, mean corpuscular volume 96.75 fl, reticulocyte count 17%, mean sphered corpuscular volume 77.78 fl, total bilirubin 62.50 μmol/l, and blood smears showed increased spherocytosis.

Conclusions: Mild and moderate hereditary spherocytosis can be easily misdiagnosed. Assessment of total, direct, and indirect serum bilirubin, erythrocyte morphology and red cell characteristics (particularly mean corpuscular volume and mean sphered corpuscular volume) clearly distinguishes hereditary spherocytosis from autoimmune hemolytic anemia, glucose-6-phosphate dehydrogenase deficiency, thalassemia, and autoimmune hepatitis.