title: Hyperbilirubinemia and cholelithiasis in Chinese patients with hemoglobin H disease.
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.
authors.affiliation: Department of Medicine, Queen Mary Hospital, Pokfulam Road, Hong Kong, China. auwing@hotmail.com
authors.forename: W Y
authors.initials: WY
authors.lastname: Au
authors.forename: W C
authors.initials: WC
authors.lastname: Cheung
authors.forename: W H
authors.initials: WH
authors.lastname: Hu
authors.forename: G C F
authors.initials: GC
authors.lastname: Chan
authors.forename: S Y
authors.initials: SY
authors.lastname: Ha
authors.forename: P L
authors.initials: PL
authors.lastname: Khong
authors.forename: S K
authors.initials: SK
authors.lastname: Ma
authors.forename: R
authors.initials: R
authors.lastname: Liang
mesh_terms: D000483:Alleles; D044466:Asian People; D002681:China; D002769:Cholelithiasis / Q000097:blood / Q000209:etiology / Q000235:genetics*; D005260:Female; D042882:Gallstones / Q000209:etiology / Q000235:genetics; D005838:Genotype; D005878:Gilbert Disease / Q000097:blood / Q000209:etiology / Q000235:genetics*; D006447:Hemoglobin H / Q000032:analysis / Q000235:genetics; D006456:Hemoglobinuria / Q000097:blood / Q000145:classification / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007565:Jaundice / Q000209:etiology / Q000235:genetics; D008297:Male; D012307:Risk Factors; D012737:Sex Factors; D017085:alpha-Thalassemia
chemical_list: D006447:Hemoglobin H