Confounding Factors in the Diagnosis of Hereditary Spherocytosis and Gallstone Formation in Related Hemolytic Disorders From a Tertiary Care Center in North India.

INTRODUCTION

Gallstones are a significant complication in individuals with hereditary spherocytosis (HS) and related hemolytic disorders. Chronic hemolysis leads to elevated bilirubin levels, a precursor for pigment gallstone formation. Despite advancements in understanding HS, the mechanisms driving gallstone pathogenesis remain incompletely understood, particularly in the presence of genetic factors such as Gilbert syndrome, beta-thalassemia trait, and G6PD deficiency.

OBJECTIVE

This study aims to investigate gallstone patterns in individuals with HS and related hemolytic conditions, focusing on the role of genetic, metabolic, and clinical factors in gallstone development.

MATERIALS AND

METHODS

A five-year prospective observational study was conducted on 100 patients with HS and related conditions. Clinical, hematological, biochemical, and genetic data were analyzed. Gallstone presence was confirmed via ultrasonography. Correlations between gallstone incidence and various parameters, including bilirubin levels, hemoglobin (Hb) levels, spleen size, and genetic predisposition, were assessed. Statistical significance was determined using chi-square correlation and regression analyses.

RESULTS

Gallstones were present in 42% of the cohort, with increased incidence in participants with homozygous Gilbert syndrome (28%) compared to heterozygous individuals (20%; p = 0.04). Hb levels <12.5 g/dL were significantly associated with gallstone presence (71%; p < 0.05). Elevated total bilirubin correlated positively with gallstones (r = +0.63; p < 0.001), while increased spleen size showed a strong negative correlation (ρ = -0.744; p < 0.001).

CONCLUSIONS

The development of gallstones in hemolytic disorders involves a multifactorial interplay of hemolysis, bilirubin metabolism, and genetic factors. Homozygous Gilbert syndrome significantly increases the susceptibility to gallstones, highlighting the importance of genetic screening in at-risk patients.