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Related Concept Videos

Cholecystitis01:20

Cholecystitis

Cholecystitis is inflammation of the gallbladder, most commonly caused by obstruction of the cystic duct. This blockage prevents bile from draining, leading to gallbladder distension, inflammation, and potentially serious complications. This condition may present acutely or chronically and can happen with or without gallstones.EtiologyAbout 95% of cholecystitis cases are calculous, caused by gallstones blocking the cystic duct, leading to bile accumulation and inflammation of the gallbladder...
Portal Hypertension01:22

Portal Hypertension

Portal hypertension is an increase in blood pressure within the portal venous system. Normally, this pressure is less than 5 mmHg. It is considered clinically significant when it rises above 10 mmHg. At this threshold, complications from altered blood flow and venous congestion emerge.EtiologyPortal hypertension arises from conditions that impede blood flow through the liver. The most common cause is cirrhosis, in which chronic liver injury leads to fibrotic scarring. This fibrosis narrows or...
Urinary Tract Calculi VI: Surgical Management01:25

Urinary Tract Calculi VI: Surgical Management

Procedures for Kidney StonesMedical intervention is necessary when kidney stones or renal calculi are too large to pass spontaneously (typically greater than 5 millimeters) when stones are accompanied by symptomatic infection (such as fever or pyelonephritis), when they impair kidney function, or when they cause persistent symptoms like severe pain, nausea, or urinary retention. Additionally, patients with only one kidney or those who cannot be treated with medical management also require...
Cirrhosis I: Introduction01:23

Cirrhosis I: Introduction

Cirrhosis is a chronic, irreversible liver disease characterized by the widespread replacement of healthy liver tissue with fibrotic scar tissue and the formation of regenerative nodules.Etiology of cirrhosisCirrhosis results from sustained liver injury that triggers progressive fibrosis and structural remodeling. The underlying causes are diverse, encompassing common and less frequent clinical conditions. Regardless of the origin, all causes lead to chronic inflammation, hepatocyte loss, and...
Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
Urinary Tract Calculi III: Medical Management01:30

Urinary Tract Calculi III: Medical Management

The diagnosis of renal calculi involves several imaging techniques, including non-contrast CT scans and ultrasound. These methods help visualize kidney stones, assess their size and location, and detect possible obstructions. Additionally, Measuring urine pH is useful for diagnosing specific stone types, such as struvite (alkaline pH) and uric acid stones (acidic pH). Cystine stones are primarily linked to cystinuria, a genetic condition. A urinalysis helps detect blood in the urine (hematuria)...

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Related Experiment Video

Updated: Jun 27, 2026

A Two-Step Method for Percutaneous Transhepatic Choledochoscopic Lithotomy
03:56

A Two-Step Method for Percutaneous Transhepatic Choledochoscopic Lithotomy

Published on: September 13, 2022

Cholelithiasis in thalassemia major.

Raffaella Origa1, Renzo Galanello, Lucia Perseu

  • 1Ospedale Regionale per le Microcitemie, ASL Cagliari, Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Cagliari, Italy.

European Journal of Haematology
|November 22, 2008
PubMed
Summary

Thirty percent of patients with thalassemia major (TM) develop gallstones, particularly those with the Gilbert's genotype. Early ultrasound screening is recommended for these patients.

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Last Updated: Jun 27, 2026

A Two-Step Method for Percutaneous Transhepatic Choledochoscopic Lithotomy
03:56

A Two-Step Method for Percutaneous Transhepatic Choledochoscopic Lithotomy

Published on: September 13, 2022

Area of Science:

  • Hepatology
  • Genetics
  • Gastroenterology

Background:

  • Thalassemia major (TM) is a severe inherited blood disorder requiring lifelong transfusions.
  • Gallstone formation (cholelithiasis) is a known complication in TM patients.
  • The genetic predisposition to cholelithiasis in TM is not fully understood.

Purpose of the Study:

  • To determine the prevalence and characteristics of gallstones in a large cohort of TM patients.
  • To investigate the association between Gilbert's syndrome genotype and cholelithiasis in TM.
  • To establish recommendations for early detection and management.

Main Methods:

  • Analysis of data from 858 transfusion-dependent TM patients across five Italian centers.
  • Yearly abdominal ultrasonography performed as part of standard care.
  • Automated sequencing of the UGT1-A1 gene promoter region to identify Gilbert's syndrome genotype (homozygosity for (TA)(7) motif).

Main Results:

  • Thirty percent of TM patients were found to have gallstones.
  • The presence of the Gilbert's genotype significantly influenced both the prevalence and age of onset of cholelithiasis.
  • Patients with the (TA)(7)/(TA)(7) UGT1-A1 genotype showed a higher incidence of gallstones at a younger age.

Conclusions:

  • Cholelithiasis is highly prevalent and occurs early in patients with TM, especially those with the (TA)(7)/(TA)(7) UGT1-A1 genotype.
  • Routine biliary ultrasonography should be initiated in childhood for all TM patients.
  • Enhanced surveillance for gallstones is warranted in TM patients with co-existing Gilbert's syndrome.