[Microspherocytosis. Erythroid profile and its relation with different laboratory tests].
Hereditary spherocytosis (HS) is a congenital and hemolytic anemia characterized by the presence of microspherocytes on the peripheral blood film and negative Coombs test. Although HS is a heterogeneous syndrome in terms of clinical severity, inherents and underlying molecular defects (deficiency of membrane skeleton proteins), typical HS has a dominant inheritance pattern and presents anemia, jaundice and splenomegaly. The purpose of this study was to present our experience and to establish the relationship between hematological and biochemical parameters and osmotic fragility and autohemolysis, all of them considered as traditionally available tests. In our environment, HS is the second most common inherited anemia after beta thalassemia trait. The diagnosis was based on osmotic fragility measurements, autohemolysis test and microspherocytes in 47 patients (45 of latin, 2 of saxon origin); 12 patients had a negative family history. Mean values: RBC (x 10(12)/L) and Hb (g/dL): children (22): 3.84/10.5; adults (25): female (13): 3.54/10.59; masculine (12): 4.65/13.15. Autohemolysis (average %) was very much increased (15.54) and it was corrected by the addition of glucose (4.07). Median osmotic fragility (average g/dL) was increased in both fresh (0.48) and incubated blood (0.65). 76.5% children and 26.7% adults had absence of haptoglobin. Reticulocytes, indirect bilirubin and LDH were increased (average values 336.35 x 10(9)/L, 36.25 mmol/L and 236.48 UI/L, respectively). Microcytosis, spherocytosis, polycromatophylia, acanthocytosis, basophilic stippling, pincered cells were observed in 43, 41, 41, 12, 11, 1 patients respectively. Morphologic alterations were more marked in children. The laboratory findings seemed more a consequence of microcytosis than of spherocytosis.
Aixála
M T
MT
Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Pacheco de Melo 308, 1425 Buenos Aires, Argentina. maixala@hematologia.anm.edu.ar
Sarandría
C N
CN
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000502:physiology*; D005260:Female; D006461:Hemolysis / Q000502:physiology; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009996:Osmotic Fragility; D013103:Spherocytosis, Hereditary / Q000097:blood / Q000175:diagnosis*