Hereditary Spherocytosis in Greece: Collective Data on a Large Number of Patients

Abstract

This paper summarizes data from a haematological, biochemical, and clinical study carried out in 73 patients of Greek origin (38 non-splenectomized children and 35 adults; 17 splenectomized) with Hereditary Spherocytosis (HS). Mean haemoglobin levels in the non-splenectomized patients were significantly lower (122 ± 15 g/L) than those of the splenectomized group (144 ± 15 g/L). In all patients with HS (non-splenectomized and splenectomized adults, and children) the MCHC values (355 ± 22, 358 ± 16 and 356 ± 16 respectively) were significantly increased compared to a control group, while the percentage of microcytic and hyperchromic red cell subpopulations was significantly increased in the former group of adults. SDS-PAGE demonstrated that 29 patients (39.7%) had isolated spectrin deficiency, 22 patients (30.1%) had combined spectrin and ankyrin deficiency, 17 patients (23.3%) had band 3 deficiency and 1 patient had protein 4.2 deficiency. No quantitative biochemical defects were detected in 4 patients (5.5%). The biochemical findings did not correlate with the haematological and clinical phenotype of the disease.

Keywords:

• Hereditary spherocytosis