Overview on Hereditary Spherocytosis Diagnosis

Area of Science:

• Hematology
• Clinical Pathology
• Genetics

Background:

• Hereditary spherocytosis (HS) is a congenital hemolytic disorder caused by red blood cell (RBC) membrane protein defects.
• Key symptoms include anemia, jaundice, and splenomegaly, with jaundice being prominent in newborns.

Purpose of the Study:

• To review the state-of-the-art diagnostic methods for hereditary spherocytosis.
• To cover traditional and innovative diagnostic approaches for pediatric and adult patients across various laboratory levels.

Main Methods:

• Analysis of traditional erythrocyte parameters (MCHC, MCV, RDW).
• Evaluation of advanced parameters from automated analyzers (e.g., % Hyper, MicroR, Hypo-He, % Hyper-He, % HPR, MSCV).
• Inclusion of reference tests like acidified glycerol lysis test (AGLT), eosin-5-maleimide (EMA) binding test, and next-generation sequencing (NGS).

Main Results:

• Newer automated analyzer parameters offer more detailed insights into RBC abnormalities.
• Innovative tests like EMA binding and NGS provide crucial diagnostic information.
• Diagnostic algorithms are being refined to incorporate these advancements.

Conclusions:

• The diagnostic workup for HS can be significantly improved with current and emerging tests, including molecular tools.
• Effective diagnosis requires close collaboration between clinicians and laboratory professionals.
• Integrating clinical data, test results, and prognosis is essential to address diagnostic gaps.