Volumen: 18 # Number : 1
Publication Date : Enero - Abril Year: 2014
Demographic, clinical, diagnostic and therapeutic data
of hereditary spherocytosis in our country.
A study on 143 cases belonging to 84 families
Authors: Donato H, Crisp RL, García E, Rapetti MC, Solari L, Vota D, Chamorro ME, Schvartzman G, Miguez G, Gammella D, Vitttori D, Nesse A
Abstract: Background. Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia; however, information
concerning its behavior in our country is scarce.
Aim. To report demographic, clinical, diagnostic, and therapeutic data on the disease.
Patients and methods. In 2007 we started performing hypertonic cryohemolysis (HC), 5’EMA flow cytometry (5’EMA-FC), and membrane proteins electrophoresis (SDS-PAGE) in addition to standard tests – osmotic fragility
(OF) and autohemolysis (AH) - for evaluation of patients with HS. Since 2009 we added flow cytometric OF (OF-FC). Data from all patients studied from 2007 were analyzed. Diagnostic criteria for HS: spherocytes in blood smear plus two positive tests. Silent carrier (SC): family member with protein deficiency but otherwise asymptomatic
and negative for other tests.
Results. The study included 281 individuals; 121 HS and 22 SC were identified. Tests positivity rates were: OF 92.2%, AH 75.7%, SDS-PAGE 72.2%, HC 93.3%, 5’EMA-FC 91.3%, OF-FC 86.3%. All of the 69 cases in whom the three new procedures were performed had at least one positive test; 63 of them (91.3%) presented two positive
tests. The SDS-PAGE showed that the most frequent deficiencies were ankyrin and spectrin. Classification by severity of anemia: mild 33.7%, moderate 44.2%, severe 22.1%. Neonatal manifestations were seen in 80.9% of cases; the incidence was higher in moderate/severe than in mild anemias (p<0.05). Comparison of tests results in relation to severity showed no difference between groups. Splenectomy was performed in 24 patients. All of them reached sustained normal hemoglobin values after the procedure. No life-threatening infection occurred.
Conclusions. Most frequent deficiencies in our country are ankyrin and spectrin. The simultaneous use of HC, 5’EMA-FC y OF-FC allows confirming the diagnosis in more than 91% of cases. Except for a higher incidence of neonatal manifestations, the clinical pattern in our population
showed no difference with that reported by most authors. No case of death or overwhelming fulminant sepsis post-splenectomy was seen.
Key words: hereditary spherocytosis, hemolytic anemia, red blood cell membrane, flow cytometry, splenectomy
Pages : 9-16
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