Amalgamation of the Rarest: Homozygous Beta Thalassemia and Gilbert Syndrome

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.

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Publication Details

Journal
Annals of Pathology and Laboratory Medicine
Published
2024-08-11
DOI
https://doi.org/10.21276/apalm.3365
Primary Topic
Hemoglobinopathies and Related Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Amalgamation of the Rarest: Homozygous Beta Thalassemia and Gilbert Syndrome

Charu Batra Atreja, Vishesh Dhawan, Ayushi Kediya, Meenal Upadhyay
Annals of Pathology and Laboratory Medicine
Hemoglobinopathies and Related Disorders
article

Amalgamation of the Rarest: Homozygous Beta Thalassemia and Gilbert Syndrome

Charu Batra Atreja, Vishesh Dhawan, Ayushi Kediya, Meenal Upadhyay
article en

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.

Annals of Pathology and Laboratory MedicineVol. 11(8)
Maharishi Markandeshwar University, Mullana (IN), Institute of Medical Sciences (IN)
Openalex Percentile: Top 53%
Hemoglobinopathies and Related Disorders
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Amalgamation of the Rarest: Homozygous Beta Thalassemia and Gilbert Syndrome — Charu Batra Atreja, Vishesh Dhawan, et al. · Annals of Pathology and Laboratory Medicine (2024) | TGRS Research Map | TGRS