Hyperbilirubinemia and cholelithiasis in Chinese patients with hemoglobin H disease

Ann Hematol. 2005 Oct;84(10):671-4. doi: 10.1007/s00277-005-1091-8. Epub 2005 Jul 26.

Abstract

Hemoglobin H disease (HbH) is a hemoglobinopathy peculiar to parts of the world with high incidence alpha-thalassemia mutations. Among 90 HbH cases, 50 cases suffered from clinically significant jaundice (bilirubin >30 mmol/l), including 14 with severe jaundice (bilirubin >60 mmol/l). Cholelithiasis was found in 38 cases. The incidence is roughly eight times higher than that in background control population but 50% lower than that in beta-thalassemia. The risk of gallstones was related to higher bilirubin levels but not alpha-globin genotype, sex, ferritin, and hemoglobin levels. Homozygotes or double heterozygotes for Gilbert alleles (17.2%), but not heterozgyotes (42.2%), were found to have a significantly increased risk of gallstones and jaundice. However, common Chinese Gilbert syndrome alleles do not completely explain the variable risks.

MeSH terms

  • Alleles
  • Asian Continental Ancestry Group
  • China
  • Cholelithiasis / blood
  • Cholelithiasis / etiology
  • Cholelithiasis / genetics*
  • Female
  • Gallstones / etiology
  • Gallstones / genetics
  • Genotype
  • Gilbert Disease / blood
  • Gilbert Disease / etiology
  • Gilbert Disease / genetics*
  • Hemoglobin H / analysis
  • Hemoglobin H / genetics
  • Hemoglobinuria / blood
  • Hemoglobinuria / classification
  • Hemoglobinuria / genetics*
  • Heterozygote
  • Humans
  • Jaundice / etiology
  • Jaundice / genetics
  • Male
  • Risk Factors
  • Sex Factors
  • alpha-Thalassemia

Substances

  • Hemoglobin H