Abstract
Hemoglobin H disease (HbH) is a hemoglobinopathy peculiar to parts of the world with high incidence α-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 β-thalassemia. The risk of gallstones was related to higher bilirubin levels but not α-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.
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Au, W.Y., Cheung, W.C., Hu, W.H. et al. Hyperbilirubinemia and cholelithiasis in Chinese patients with hemoglobin H disease. Ann Hematol 84, 671–674 (2005). https://doi.org/10.1007/s00277-005-1091-8
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DOI: https://doi.org/10.1007/s00277-005-1091-8