Exploring a Case of Unconjugated Hyperbilirubinaemia Resulting from the Rare Coexistence of Inherited Disorders- A Case Report.

Abstract

Haemoglobinopathies are genetic disorders causing abnormalities in the production, structure, or function of haemoglobin. Haemoglobin D-Punjab is a prevalent haemoglobin variant in Punjab and northwest India. Heterozygous individuals typically exhibit no symptoms, while homozygotes may experience mild to moderate haemolytic anaemia. While, beta thalassaemia trait decreases beta-globin synthesis, occasionally causing moderate anaemia. Gilbert's syndrome, a common cause of unconjugated hyperbilirubinaemia without haemolytic symptoms occurs due to reduced uridine glucuronyl transferase enzyme activity. Coexistence of Hb D-Punjab/β-thalassaemia and Gilbert's syndrome is rare; we report a unique case of simultaneous presentation in a patient with mild anaemia and jaundice, a rare occurrence documented only once in literature. This rare combination of conditions, characterized by overlapping symptoms and diagnostic complexities, highlights the need for an all-encompassing approach to ensure accurate diagnosis and effective management. Multidisciplinary collaboration and laboratory investigations including genetic testing for Gilbert's syndrome played a pivotal role in providing appropriate care in our case. Effective communication between laboratory professionals and medical consultants is of paramount importance in achieving precise diagnoses and optimal patient care.