Dataset Information
Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin-Johnson syndrome in a Chinese gril: A case report.
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ABSTRACT: Background
Hereditary spherocytosis (HS) is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects. Dubin-Johnson syndrome (DJS), which commonly results in jaundice, is a benign hereditary disorder of bilirubin clearance that occurs only rarely. The co-occurrence of HS and DJS is extremely rare. We recently diagnosed and treated a case of co-occurring HS and DJS.Case summary
A 21-year-old female patient presented to our department because of severe jaundice, severe splenomegaly, and mild anemia since birth. We eventually confirmed the diagnosis of co-occurring DJS and HS by next generation sequencing (NGS). The treatment of ursodeoxycholic acid in combination with phenobarbital successfully increased hemoglobin and reduced total bilirubin and direct bilirubin.Conclusion
The routine application of NGS can efficiently render a definite diagnosis when inherited disorders are suspected.
SUBMITTER: Li Y
PROVIDER: S-EPMC6819282 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Publications
Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin-Johnson syndrome in a Chinese gril: A case report.
World journal of clinical cases 20191001 20
<h4>Background</h4>Hereditary spherocytosis (HS) is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects. Dubin-Johnson syndrome (DJS), which commonly results in jaundice, is a benign hereditary disorder of bilirubin clearance that occurs only rarely. The co-occurrence of HS and DJS is extremely rare. We recently diagnosed and treated a case of co-occurring HS and DJS.<h4>Case summary</h4>A 21-year-old female patient presented to our department because of ...[more]
