Hereditary spherocytosis is a hematologic disorder, characterized clinically by anemia
jaundice and splenomegly, and laboratorily by unique characteristics of spherocytes. This
disorder is thought to be inherited as a Mendelian dominant and is the most common of
the hereditary hemolytic anemias among people of Northern European descent, but is
uncommon in colored people.
Although many reports had been made in foreign literature, only few scattered cases
were described and no one had published data derived from clinical information on a
large series of patients in this country.
This paper presents some genetic and clinical data from total 47 cases of hereditary
spherocytosis: 10 from the Severance Hospital, Yonsei University College of Medicine
from January, 1967 to December, 1976, 22 from the literature reported in this country
until December, 1976, and 15 which were not subjects to be reported but mentioned as
affected relatives, and selected as hereditary spherocytosis by us.
The results obtained were as the follows:
1. The presumptive prevalence was seemed to be less than 2-3 per million.
2. Age distribution was between 100 days and 53 years with mean of 19.1(male: 17.2,
female:20.7) years
3. Male and female were 21 and 26 respectively with male to female ratio of 1 : 1.24.
4. Family history was present in 36 out of 47 cases (76.6%), and in 15 out of 26
families (57.7%).
5. Forty-three out of 84 relatives in 15 families were affected with affection rate of
51.2%.
6. Age of inset was between at birth and 28.6 years with mean of 7.8 years.
7. Duration from onset to diagnosis was between 20 days and 32 years with mean of
10.3 years.
8. Subjective symptoms were absent in 10(21.3%), undescribed in 4(8.5%), and present
in 33 (70.2%). They were jaundice and red urine (44.7%), anemia and pallor (36.2%),
splenomegaly and right upper quadrant palpable mass (19.1%), weakness or malaise and
abdominal distention (14.9%), and occasional epistaxis (12.8%) in order.
The symptoms attributable to anemia were noted in 68.1%, to hemolysis in 44.7%, and
to splenomegely in 40.4%. All 33 cases showed one or more symptoms due to anemia,
hemolysis, and splenomegaly.
9. Physical findings revealed splenomegaly (90.0%), anemia and pallor (80.6%),
jaundice (78.8%), hepatomegaly (65.7%), and cardiac murmurs (50.0%) in order. Growth
retardation was noted in 3, bilateral vertex prominence of the skull in 1, and n one had
leg ulcers or eye deformity.
10. Laboratory data showed;
(a). Anemia (Hb<12gm%) in 91.4% with mean of 8.8 (4.2-14.5) gm%,
(b). Reticulocytosis (>2%) in 82.9% with mean count of 10.4 (0.5-76.0)%,
(c). Normal ranges of leukocyte, platelet count and red cell indices,
(d). spherocytes in peripheral blood in 100% with mean of 40.9% (15-67)%,
(e). Hyperbilirubinemia(>1.5㎎%) in 83.9% with mean of 4.4 (0.6-27.4)㎎%,
(f). Increased osmotic fragility test in 97.0%
(g). Increased autohemolysis(>5 times of normal) and shortened red cell
half-life(T1/2<20days) in 100%, with mean of 38.8(18.4-66.0)% and
13.9(9.3-19)days respectively which were examined in 6 cases, and
(h). Negative Coombs' test in all (100%).
11. Skull X-rays showed abnormal findings in 3 out of 17 (17.6%)
12. Gall stone were noted in 7 out of 25 (28.4 years) and longer (23.0years) than that
(17.3 and 7.5 years respectively) of cases without stone.
13. Splenectomy was performed in 20 cases and the average weight of the spleen was
662.3 (180-1,500)gm, and accessory spleen was found in 2 (10%) and removed
simultaneously.
The postsplenectomy courses were uneventful except one who died in 10th
postoperative day from infection,
14. Acute crisis was suspected in 16 out of 31 cases(51.6%). The hemolytic and
aplastic crisis was same in number, and none had megaloblastic crisis. The over-all
incidence of acute crisis was 34.0% in respect to 47 cases.
15. The case free from clinical symptoms and physical examination was only 2 out of
47 cases (4.3%).
In general speaking, clinical manifestations of hereditary spherocytosis in this country
were somewhat more marked than that reported in foreign literature, except gall stone,
while there was no remarkable difference in age, sex, and affection pattern.
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