Amalgamation of the Rarest: Homozygous Beta Thalassemia and Gilbert Syndrome

Ayushi Kediya; Charu Batra Atreja; Meenal Upadhyay; Vishesh Dhawan

doi:10.21276/apalm.3365

Amalgamation of the Rarest: Homozygous Beta Thalassemia and Gilbert Syndrome

Authors

Ayushi Kediya Department of Pathology, Maharishi Markandeshwar Institute of Medical Sciences and Research, Maharishi Markandeshwar Deemed to be University, Mullana-Ambala, Haryana, India https://orcid.org/0000-0003-1414-5799
Charu Batra Atreja Department of Pathology, Maharishi Markandeshwar Institute of Medical Sciences and Research, Maharishi Markandeshwar Deemed to be University, Mullana-Ambala, Haryana, India https://orcid.org/0000-0002-0168-2467
Meenal Upadhyay Department of Pathology, Maharishi Markandeshwar Institute of Medical Sciences and Research, Maharishi Markandeshwar Deemed to be University, Mullana-Ambala, Haryana, India https://orcid.org/0009-0009-6379-7479
Vishesh Dhawan Department of Pathology, Maharishi Markandeshwar Institute of Medical Sciences and Research, Maharishi Markandeshwar Deemed to be University, Mullana-Ambala, Haryana, India https://orcid.org/0000-0002-6445-9385

DOI:

https://doi.org/10.21276/apalm.3365

Keywords:

Beta thalassemia, Gilbert syndrome, Hyperbilirubinemia, Thalassemia intermedia

Abstract

Homozygous beta-thalassemia patients are known to show significant variability in serum unconjugated bilirubin levels, which can be attributed to the red cell destruction rate, ineffective erythropoiesis, or bilirubin elimination capacity. One cause of this hyperbilirubinemia is Gilbert syndrome ((TA)7/(TA)7 genotype), which is known to act as a modifying factor in thalassemic patients. Defective glucuronidation in Gilbert allele carriers aggravates jaundice in all hemolytic anemias, including thalassemia. Here, we present a rare case of the amalgamation of thalassemia intermedia and Gilbert syndrome in a young male patient.

References

Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008;86(6):480-7.

Angastiniotis M, Lobitz S. Thalassemias: an overview. Int J Neonatal Screen. 2019;5(1):16.

Nienhuis AW, Nathan DG. Pathophysiology and clinical manifestations of the Î²-thalassemias. Cold Spring Harb Perspect Med. 2012;2(12)

Dabke PS, Colah RB, Ghosh KK, Nadkarni AH. Role of co-inherited Gilbert syndrome on hyperbilirubinemia in Indian beta thalassemia patients. Hematology. 2014;19(7):388-92.

Fretzayas A, Moustaki M, Liapi O, Karpathios T. Eponym: Gilbert syndrome. Eur J Pediatr. 2012;171:11-5.

Tzetis M, Kanavakis E, Tsezou A, et al. Gilbert syndrome associated with Î²-thalassemia. Pediatr Hematol Oncol. 2001;18(8):477-84.

Premawardhena A, Fisher CA, Fathiu F, et al. Genetic determinants of jaundice and gallstones in haemoglobin E Î² thalassaemia. Lancet. 2001;357(9272):1945-6.

Canu G, Minucci A, Zuppi C, Capoluongo E. Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database. Blood Cells Mol Dis. 2013;50(4):273-80.

Abuduxikuer K, Fang LJ, Li LT, Gong JY, Wang JS. UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: a retrospective analysis and quantitative correlation. Medicine (Baltimore). 2018;97(49)

Downloads

Published

11-08-2024

How to Cite

Kediya A, Atreja CB, Upadhyay M, Dhawan V. Amalgamation of the Rarest: Homozygous Beta Thalassemia and Gilbert Syndrome. Ann of Pathol and Lab Med [Internet]. 2024 Aug. 11 [cited 2024 Nov. 19];11(8):C120-124. Available from: https://pacificejournals.com/journal/index.php/apalm/article/view/3365

Vancouver

Download Citation

Issue

Vol. 11 No. 8 (2024)

Section

Case Report

License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access at http://opcit.eprints.org/oacitation-biblio.html).