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Background: Hereditary spherocytosis (HS), a familial hemolytic disorder caused by red blood cell membrane defects, leads to increased red blood cell destruction. It manifests as jaundice, hemolytic anemia, and splenomegaly. HS patients, due to chronic hemolysis, are prone to developing bile duct or gallbladder stones, and some primarily present with 'cholelithiasis' as their main clinical manifestation.
Methods: We reported a case of a patient who was admitted for biliary colic due to choledocholithiasis and was ultimately diagnosed with HS. We conducted a retrospective analysis of this hospitalized patient's clinical manifestations, laboratory test results, and diagnostic process. The evaluated parameters encompassed complete blood count, peripheral blood smear analysis, biochemical markers (including liver function and HbA1c), and iron metabolism. To confirm the diagnosis, the patient's samples were sent to Dean Medical Laboratory Center for genetic testing. By employing high-throughput targeted sequencing technology, the laboratory staff screened multiple erythrocyte membrane protein-related genes.
Results: Laboratory test results showed that the patient had a decreased red blood cell count and hemoglobin lev-els, markedly reduced HbA1c values below the normal reference range, and elevated total bilirubin (TBIL) levels (684.0 µmol/L), predominantly direct bilirubin. Genetic testing confirmed the diagnosis of HS.
Conclusions: The clinical laboratory's identification and analysis of abnormal indicators (e.g., low HbA1c and elevated bilirubin) offer crucial diagnostic insights for clinicians. Integrating complete blood count, peripheral blood smear examination, and genetic testing enables accurate diagnosis of hematologic disorders, underscoring the essential role of laboratory medicine in multidisciplinary teamwork.
DOI: 10.7754/Clin.Lab.2025.250572
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