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A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome.
J Pediatr Hematol Oncol. 2020 Apr 13 [Online ahead of print]JP

Abstract

Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Targeted next-generation sequencing identified Q267del trans to the α allele in SPTA1. In addition, the proband presented coexisting Gilbert syndrome as determined by homozygous mutation of UGT1A1. Investigation of 13 relatives and his sibling revealed that only his sibling showed the same phenotype and genotype as the proband. This is the first report of molecular confirmation of coexisting hereditary pyropoikilocytosis and Gilbert syndrome and a novel mutation in SPTA1.

Authors+Show Affiliations

Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya.Department of Transfusion Medicine and Cell Processing.Department of Transfusion Medicine and Cell Processing.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo.Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi.Department of Pediatrics, Municipal Ena Hospital, Ena, Japan.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32287101

Citation

Suzuki, Tomoko, et al. "A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome." Journal of Pediatric Hematology/oncology, 2020.
Suzuki T, Togawa T, Kanno H, et al. A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome. J Pediatr Hematol Oncol. 2020.
Suzuki, T., Togawa, T., Kanno, H., Ogura, H., Yamamoto, T., Sugiura, T., Kouwaki, M., & Saitoh, S. (2020). A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome. Journal of Pediatric Hematology/oncology. https://doi.org/10.1097/MPH.0000000000001796
Suzuki T, et al. A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome. J Pediatr Hematol Oncol. 2020 Apr 13; PubMed PMID: 32287101.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome. AU - Suzuki,Tomoko, AU - Togawa,Takao, AU - Kanno,Hitoshi, AU - Ogura,Hiromi, AU - Yamamoto,Toshiyuki, AU - Sugiura,Takahiro, AU - Kouwaki,Masanori, AU - Saitoh,Shinji, Y1 - 2020/04/13/ PY - 2020/4/15/entrez PY - 2020/4/15/pubmed PY - 2020/4/15/medline JF - Journal of pediatric hematology/oncology JO - J. Pediatr. Hematol. Oncol. N2 - Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Targeted next-generation sequencing identified Q267del trans to the α allele in SPTA1. In addition, the proband presented coexisting Gilbert syndrome as determined by homozygous mutation of UGT1A1. Investigation of 13 relatives and his sibling revealed that only his sibling showed the same phenotype and genotype as the proband. This is the first report of molecular confirmation of coexisting hereditary pyropoikilocytosis and Gilbert syndrome and a novel mutation in SPTA1. SN - 1536-3678 UR - https://www.unboundmedicine.com/medline/citation/32287101/A_Novel_α_Spectrin_Pathogenic_Variant_in_Trans_to_α_Spectrin_LELY_Causing_Neonatal_Jaundice_With_Hemolytic_Anemia_From_Hereditary_Pyropoikilocytosis_Coexisting_With_Gilbert_Syndrome_ L2 - https://doi.org/10.1097/MPH.0000000000001796 DB - PRIME DP - Unbound Medicine ER -
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