A Clinical Study on Hereditary Spherocytosis

Park, Joung Chul; Park, Jun Eun; Kim, Yoon Jeong; Seo, Jong Jin; Moon, Hyung Nam; Ghim, Thad

Abstract

PURPOSE: The aim of this study was to investigate the clinical and laboratory findings of hereditary spherocytosis comparing those of different age groups.
METHODS
The clinical and laboratory findings of hereditary spherocytosis from June 1989 to August 1998 at Asan Medical Center were analyzed retrospectively according to two different age groups, Group I (9 patients diagnosed under 10 years of age) and Group II (19 patients diagnosed at or over 10 years of age).
RESULTS
1) Mean age at diagnosis was 2.4+/-1.97 and 28.2+/-18.81 years, and family history was positive in 44% and 47% in Group I and II patients respectively. 2) Splenectomy was carried out in 33% and 79% of Group I and II patients respectively, and accessory spleen was found in 100% and 20% of splenectomized patients respectively. 3) Gallstone was found in 11% and 42% of Group I and II patients respectively, and aplastic crisis developed in 0% and 10% respectively. 4) Post-splenectomy hematological parameters improved as follows: Group I; from hemoglobin at diagnosis of 8.5+/-3.59 g/dL to post-splenectomy level of 12.6+/-0.86 g/dL, hematocrit 24.5+/-10.25% to 38.1+/-4.86%, corrected reticulocyte 9.0+/-4.16% to 1.2+/-0.84%, total bilirubin 3.2+/-1.53 mg/dL to 2.2+/-1.34 mg/dL. Group II ; from hemoglobin at diagnosis of 8.9+/-2.95 g/dL to post-splenectomy level of 12.6+/-1.27 g/dL, hematocrit 24.9+/-7.85% to 37.4+/-2.89%, corrected reticulocyte 4.8+/-2.74% to 2.0+/-1.12%, total bilirubin 5.2+/-5.05 mg/dL to 1.1+/-0.49 mg/dL.
CONCLUSION
There were no age related differences in hematologic findings at diagnosis and many of the patients with milder form of the disease could be detected later in adult life. The frequency of gallstone was up to 42% in patients whose diagnosis was delayed after 10 years of age, and aplastic crisis was a rare complication. Splenectomy was an effective treatment leading to normal hemoglobin concentrations in all patients. Accessory spleen was found in 33% of splenectomized patients, which emphasizes the necessity of spleen scan before splenectomy.