[Clinical and experimental studies of adult hereditary spherocytosis].
OBJECTIVE
To explore the clinical characteristic of adult hereditary spherocytosis (HS) and the efficacies of splenectomy.


METHODS
Six cases with adult HS were collected from July 2006 to July 2012. And their clinical features, laboratory profile and treatment were retrospectively analyzed.


RESULTS
There were 2 males and 4 females with a diagnostic age of 21-67 years. Their chief complaints were symptoms of upper gastrointestinal tract. The characteristic tetralogy was anemia, hemolysis, splenomegaly and gallstone.Familial inheritance pattern was found in 2 patients. The laboratory examination results demonstrated anemia, reticulocyte and elevated indirect bilirubin in 6 patients. Three patients had positive urobilinogen. The osmotic fragility (OF) test were 2 positive and 4 negative ones. And 2 negatives turned positive after incubation. The acidified glycerol lysis test (AGLT50) was positive in all. Ultrasonography showed splenomegaly and gallstone. There were 3 abnormal types red cells in peripheral blood, densely-dyed red cells (35%-89%) , microspherocytes (14%-20%) and irregular-shaped red cells.Scanning electron microscope showed single or many acanthocytes or spikes in red cell surface.Red cell body was irregular dish or flower-shaped. Biconcave disc shape disappearance. Three patients had short bands 3, 4.1 or 4.2. The age of onset was late and clinical symptoms was lighter.Spectrin-ankyrin was deficient for another 2 patients. The age of onset was early and clinical sign serious.Splenectomy and cholecystectomy were performed in 3 patients. Their postoperative hemoglobin was normal during follow-ups. Clinical relief was achieved.


CONCLUSIONS
Combined experiments can enhance the diagnostic rate of adult HS so as to avoid misdiagnosis. And the efficacies of splenectomy are definite.
Department of Hematology, Affiliated Nanjing First Hospital, Nanjing Medical University, Nanjing 210006, China.
Qing
Q
He
Department of Hematology, Affiliated Nanjing First Hospital, Nanjing Medical University, Nanjing 210006, China. Email: xuejun64@sina.com.
Jun
J
Xue
D000328:Adult; D000368:Aged; D017487:Ankyrins / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D013103:Spherocytosis, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D013156:Splenectomy; D016896:Treatment Outcome; D055815:Young Adult
D017487:Ankyrins