Korean J Gastroenterol.  2013 Mar;61(3):166-169. 10.4166/kjg.2013.61.3.166.

A Case of Hereditary Spherocytosis Coexisting with Gilbert's Syndrome

  • 1Department of Internal Medicine, Korea Cancer Center Hospital, Korea Institute of Radiological and Medical Sciences, Seoul, Korea. mdhyejin@gmail.com
  • 2Department of Laboratory Medicine, Korea Cancer Center Hospital, Korea Institute of Radiological and Medical Sciences, Seoul, Korea.


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.


Hereditary spherocytosis; Gilbert disease; Anemia; Jaundice; Splenomegaly

MeSH Terms

Gilbert Disease/complications/*diagnosis/genetics
Polymorphism, Single Nucleotide
Spherocytosis, Hereditary/complications/*diagnosis/genetics


  • Fig. 1. Peripheral blood smear (Wright-Giemsa stain, ×1,000). Normochromic normocytic red blood cells and characteristic spherocytes (arrow) lacking central pallor, which was specific to hereditary spherocytosis. Some schistocytes were present.

  • Fig. 2. Osmotic fragility test. Increased osmotic fragility of red blood cells (RBCs) was an important diagnostic feature of hereditary spherocytosis. The patient's RBCs began to lyse at 0.56% NaCl and were completely lysed at 0.36% NaCl. Because the RBCs of patients with hereditary spherocytosis have a limited capacity to expand, they lyse at higher concentrations of NaCl than normal control RBCs (beginning, 0.44% and end, 0.32%).

Cited by  1 articles

Coexistence of Gilbert Syndrome and Hereditary Spherocytosis in a Child Presenting with Extreme Jaundice
Jae Hee Lee, Kyung Rye Moon
Pediatr Gastroenterol Hepatol Nutr. 2014;17(4):266-269.    doi: 10.5223/pghn.2014.17.4.266.



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