Abstract
The clinical manifestations of hereditary spherocytosis are similar to those of various hemolytic anemias, which causes hereditary spherocytosis to be difficult to diagnose clinically. In this case, we obtained the peripheral blood of a patient and family members, and through a whole exome test of the 6,297 genetic phenotypes confirmed by OMIM, we found a heterozygous nonsense mutation (c.4117C>T, P.Q1373X) in the SPTB gene. Combined with the patient's clinical data, the diagnosis was hereditary spherocytosis. Compared with the public population sequence database, the mutation was found to be unique. Through protein structure prediction analysis and literature studies, we found that the mutation may cause SPTB mRNA instability, resulting in insufficient spectrin protein synthesis and affecting the integrity and flexibility of the red blood cell membrane skeleton. This case report found that SPTB gene mutations may cause liver dysfunction and cirrhosis in addition to hereditary spherocytosis, and this finding expands the phenotypic spectrum of SPTB. This study confirmed that NGS can be used to diagnose hereditary spherocytosis. Identifying mutated genes can not only accurately treat diseases, but also avoid potential genetic risks and improve prenatal and postnatal care.
Highlights
Hereditary spherocytosis (HS) is a hereditary non-immune hemolytic disease that is characterized by the presence of spherical erythrocytes in peripheral blood smears [1]
This study reports a case of HS with liver transplantation after cirrhosis, summarizes its clinical manifestations, laboratory test results, and gene sequencing data, and conducts a bioinformatics analysis to improve our understanding and diagnoses of HS and our knowledge of the clinical outcomes of SPTB gene mutations
HS is a genetic disease caused by congenital abnormalities in the red blood cell membrane structure
Summary
Hereditary spherocytosis (HS) is a hereditary non-immune hemolytic disease that is characterized by the presence of spherical erythrocytes in peripheral blood smears [1]. This study reports a case of HS with liver transplantation after cirrhosis, summarizes its clinical manifestations, laboratory test results, and gene sequencing data, and conducts a bioinformatics analysis to improve our understanding and diagnoses of HS and our knowledge of the clinical outcomes of SPTB gene mutations. A 24-year-old woman presented at the First Affiliated Hospital of Xi’an Jiaotong University in September with jaundice for 24 years and liver cirrhosis for one year She had been diagnosed with non-autoimmune hemolytic anemia 24 years ago, based on a medical history of persistent anemia and hyperbilirubinemia. Re-analysis of the data of all exons did not reveal a second single-gene disease Later, she experienced severe upper gastrointestinal bleeding accompanied by hepatic encephalopathy and massive ascites, and her hemoglobin level was at least 50 g/L. At the follow-up more than one year after liver transplantation, the patient showed good signs of recovery
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