We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. Genotyping of the conjugation enzyme uridine diphosphate-glucuronosyltransferase was used to confirm Gilbert's syndrome. Because of the high prevalence rates and similar symptoms of these 2 diseases, hereditary spherocytosis can be masked in patients with Gilbert's syndrome. In review of a case and other article, the possibility of the coexistence of these 2 diseases should be considered, especially in patients with unconjugated hyperbilirubinemia who also have splenomegaly and gallstones.
Adult ; Erythrocytes/physiology ; Gallstones/etiology ; Genotype ; Gilbert Disease/complications/*diagnosis/genetics ; Glucuronosyltransferase/genetics ; Hemolysis ; Humans ; Hyperbilirubinemia/etiology ; Male ; Polymorphism, Single Nucleotide ; Spherocytosis, Hereditary/complications/*diagnosis/genetics ; Splenomegaly/etiology

We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert's syndrome (GS). Since it is difficult to diagnose HS in the absence of signs of anemia, we evaluated both the genetic mutation in the UGT1A1 gene and abnormalities in the erythrocyte membrane protein; the former was heterozygous for a UGT1A1 allele with three mutations and the latter was partially deficient in ankyrin expression. This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene.
Adult ; Alleles ; Ankyrins/metabolism ; Electrophoresis, Polyacrylamide Gel ; Gallstones/surgery ; Gilbert Disease/complications/*diagnosis/genetics ; Glucuronosyltransferase/chemistry/genetics/metabolism ; Heterozygote ; Humans ; Male ; Mutation ; Protein Structure, Tertiary ; Sequence Analysis, DNA ; Spherocytosis, Hereditary/complications/*diagnosis/genetics ; Splenomegaly/diagnosis