[Microspherocytosis. Erythroid profile and its relation with different laboratory tests]

Area of Science:

• Hematology
• Genetics
• Clinical Medicine

Context:

• Hereditary spherocytosis (HS) is a congenital hemolytic anemia characterized by microspherocytes and a negative Coombs test.
• HS exhibits variable clinical severity, inheritance patterns, and underlying molecular defects in membrane skeleton proteins.
• Typical HS presents with anemia, jaundice, and splenomegaly, often with dominant inheritance.

Purpose:

• To present clinical experience with hereditary spherocytosis.
• To establish relationships between hematological/biochemical parameters and traditional diagnostic tests (osmotic fragility, autohemolysis).
• To analyze morphologic alterations and their correlation with laboratory findings in HS patients.

Summary:

• The study analyzed 47 patients with HS, focusing on osmotic fragility, autohemolysis, and hematological parameters.
• Elevated autohemolysis (15.54%), corrected by glucose, and increased osmotic fragility (0.48% fresh, 0.65% incubated) were observed.
• Increased reticulocytes, bilirubin, LDH, and absence of haptoglobin were noted. Morphologic alterations, including microcytosis and spherocytosis, were more pronounced in children, with microcytosis appearing to drive laboratory findings.

Impact:

• This study highlights the utility of traditional tests in diagnosing and understanding hereditary spherocytosis.
• It provides insights into the correlation between hematological/biochemical markers and diagnostic parameters in HS.
• Findings emphasize the significant role of microcytosis in the observed laboratory abnormalities in HS patients.