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[Hereditary spherocytosis: clinical characteristics and treatment with splenectomy]
Insights
Hereditary spherocytosis (HS) presents with varied severity. Splenectomy effectively corrects anemia and normalizes reticulocyte counts in HS patients, though it can lead to post-operative thrombocytosis.
Area of Science:
- Hematology
- Genetics
- Internal Medicine
Context:
- Hereditary spherocytosis (HS) is a genetic red blood cell disorder.
- Diagnosis relies on clinical findings, family history, and specific laboratory tests.
- HS exhibits significant clinical heterogeneity, ranging from asymptomatic to severe hemolytic anemia.
Purpose:
- To analyze the clinico-biological characteristics of hereditary spherocytosis at diagnosis.
- To describe the clinical course and complications of HS.
- To evaluate the efficacy of splenectomy in managing HS.
Summary:
- This study reviewed 61 hereditary spherocytosis patients over 30 years.
- Key findings include high rates of reticulocytosis (91%) and splenomegaly (87%), with anemia present in over 60%.
- Splenectomy in 29 patients corrected anemia, normalized hemoglobin, and reduced reticulocyte counts, but induced thrombocytosis in 82%.
Impact:
- Splenectomy is a highly effective treatment for hereditary spherocytosis, resolving anemia and improving hematological parameters.
- Understanding HS variability is crucial for tailored patient management.
- Post-splenectomy thrombocytosis is a common complication requiring monitoring.
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.