Abstract

Gilbert syndrome (GS) is an autosomal dominant mild unconjugated hyperbilirubinemia. Hereditary spherocytosis (HS) is an inherited condition of non-immune heterogeneous hemolytic anemia. These two diseases can be very rarely diagnosed in one patient, but there is not one case reported in pregnant patient. The authors present a unique case of concomitant both diseases in pregnancy. The patient was 25-years-old, conceived spontaneously, and carefully observed throughout the pregnancy. Considering that both diseases might have a detrimental influence on pregnancy course and outcome, especially in this case with severe form of HS, the woman was hospitalized and carefully observed until the end of pregnancy. She delivered vaginally without any feto-maternal complications. In conclusion, coexisting GS and HS during pregnancy deserve careful monitoring and up-to-date treatment. This case report shows that a contemporary approach to the pregnant patient with GS and HS can result in the delivery of a healthy baby without any complications.

Highlights

  • Gilbert syndrome (GS) is one of the genetic diseases affecting bilirubin metabolism

  • At the time of second pregnancy, according to law in Kazakhstan, her conditions were regarded as a relative contraindication for pregnancy, so the patient decided to continue this pregnancy under careful supervision of doctors

  • The most common genotype among Caucasians with GS is the homozygous polymorphism of two extra bases (TA) in the TATAA box sequence of the promoter region of the UGT1A1 gene, resulting in a sequence of A(TA)7TAA instead of the normal A(TA)6TAA [13,14,15]

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Summary

Case Report

The course and outcome of pregnancy in patient with concomitant Gilbert syndrome and hereditary spherocytosis:. Hereditary spherocytosis (HS) is an inherited condition of non-immune heterogeneous hemolytic anemia These two diseases can be very rarely diagnosed in one patient, but there is not one case reported in pregnant patient. The patient was 25- years-old, conceived spontaneously, and carefully observed throughout the pregnancy Considering that both diseases might have a detrimental influence on pregnancy course and outcome, especially in this case with severe form of HS, the woman was hospitalized and carefully observed until the end of pregnancy. She delivered vaginally without any feto-maternal complications.

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