Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTA1 and Autoimmune Hepatitis in a Pediatric Patient

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Qin Yu Mei; Chen Yan Yun; Liao Lin; Wu Yang Yang; Chen Min; Lin Fa Quan

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Journal: Iranian Journal of Pediatrics Year:2023 | Volume:33 | Issue:1 Page(s): 0-0

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Title

Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTA1 and Autoimmune Hepatitis in a Pediatric Patient

Author(s)

Keywords

Autoimmune HepatitisQ4

Hereditary spherocytosisQ4

Alpha-SpectrinQ4

DNA Mutational AnalysisQ4

DiagnosisQ4

Abstract

Objectives: It is uncommon for Autoimmune Hepatitis (AIH) to occur in combination with Hereditary spherocytosis (HS). The present study examined the genetic and clinical features of a seven-year-old girl with yellow sclerae and abnormalities in liver function test results. Methods: Blood samples were taken from this girl, her parents, and a parental grandmother to be analyzed using laboratory tests and Sanger and next-generation sequencing (NGS). Results: Spectrin alpha, erythrocytic 1 (SPTA1) gene compound heterozygous mutations, were detected from this proband. Moreover, the proband inherited mutations c. 6544G>C (p. D2182H) and Thec. 134G>A (p. R45K) from her father and mother respectively. Moreover, both her father and grandmother shared an identical mutation. The mutations were not depicted in the Human Gene Mutation Database. Conclusions: HS shares some clinical features close to AIH hence, in the co-existence of AIH, its Diagnosis can be challenging. The concurrent disordermayexist if a single autoimmune hepatopathy cannot explain laboratory findings. Pedigree investigations and genetic analyses might be required for the final Diagnosis.

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APA: Copy

Qin, Yu Mei, Chen, Yan Yun, Liao, Lin, Wu, Yang Yang, Chen, Min, & Lin, Fa Quan. (2023). Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTA1 and Autoimmune Hepatitis in a Pediatric Patient. IRANIAN JOURNAL OF PEDIATRICS, 33(1), 00-00. SID. https://sid.ir/paper/1098987/en

Vancouver: Copy

Qin Yu Mei, Chen Yan Yun, Liao Lin, Wu Yang Yang, Chen Min, Lin Fa Quan. Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTA1 and Autoimmune Hepatitis in a Pediatric Patient. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2023;33(1):00-00. Available from: https://sid.ir/paper/1098987/en

IEEE: Copy

Yu Mei Qin, Yan Yun Chen, Lin Liao, Yang Yang Wu, Min Chen, and Fa Quan Lin, “Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTA1 and Autoimmune Hepatitis in a Pediatric Patient,” IRANIAN JOURNAL OF PEDIATRICS, vol. 33, no. 1, pp. 00–00, 2023, [Online]. Available: https://sid.ir/paper/1098987/en

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