[Hereditary spherocytosis: clinical characteristics and treatment with splenectomy].

PURPOSE

To analyse the clinico-biological characteristics at diagnosis, the clinical course, and the response to splenectomy of a series of patients with hereditary spherocytosis (HS).

PATIENTS AND METHODS

The clinical records of 61 patients diagnosed of HS along 30 years were reviewed. The diagnosis was based upon the existence of family history, physical findings, blood cell examination, reticulocyte count, peripheral blood spherocytes, red-cell osmotic fragility, auto-haemolysis, serum haptoglobin, LDH, non-conjugated bilirubin and direct anti-human globulin test. Data regarding the time of diagnosis and clinical course were taken into account in every case. Within the sub-group of 29 patients undergoing splenectomy, the changes in haemoglobin rates and reticulocyte and platelet counts after surgery were evaluated.

RESULTS

Of the 61 patients, 35 were men and 26 women; the median age at diagnosis was 13 years (range: 0-64 years). Family history was positive in only 40% of the cases. The mean haemoglobin rate was 112 g/L (range: 46-151 g/L), over 60% of the patients having anaemia. The mean reticulocyte count was 282 x 10(9)/L (range: 31-583 x 10(9)/L), this being above 100 x 10(9)/L in 91% of the cases. Red-cell osmotic fragility with fresh blood was increased in 86% of the cases, and in 97% after blood incubation. Serum haptoglobins were decreased, whereas LDH was increased in 58% of the patients and non-conjugated bilirubin in 72%. Splenomegaly appeared in the clinical course in 87% of the patients; cholelithiasis was present in 31.5% of them. Haemoiytic crises were seen in 45% of patients, aplastic phases in 7%, and transfusion was needed by 16% of the patients to variable extents. Splenectomy was performed in 50% of the instances before 14 years of age (range: 4-64 years), and it increased haemoglobin rates in 40 g/L, anaemia being corrected in all cases; the mean reticulocyte count returned to normal, but thrombocytosis developed after surgery, it being present in 82% of the cases 2-3 months later.

CONCLUSIONS

(1) Wide clinical variability is seen in HS, from severe forms requiring frequent transfusion to asymptomatic cases. (2) Highly frequent findings in HS are reticulocytosis and splenomegaly; relatively frequent were anaemia, haemolytic crisis and cholelithiasis, in this order. (3) Anaemia was always corrected after splenectomy, which also rose the haemoglobin rate even in the cases without anaemia, and returned the reticulocyte count to normal values.