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
| Autor: | Shinji Saitoh, Masanori Kouwaki, Hitoshi Kanno, Hiromi Ogura, Takahiro Sugiura, Tomoko Suzuki, Toshiyuki Yamamoto, Takao Togawa |
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| Rok vydání: | 2020 |
| Předmět: |
Male
Proband Hemolytic anemia Gilbert Syndrome Anemia Hemolytic congenital hereditary and neonatal diseases and abnormalities Hereditary elliptocytosis 03 medical and health sciences 0302 clinical medicine Genotype medicine Humans Genetics business.industry Elliptocytosis Hereditary Infant Newborn High-Throughput Nucleotide Sequencing Infant Spectrin EPB41 Hematology Jaundice Prognosis medicine.disease Jaundice Neonatal Pedigree Phenotype Oncology Child Preschool 030220 oncology & carcinogenesis Mutation Pediatrics Perinatology and Child Health Female Hereditary pyropoikilocytosis Gilbert Disease medicine.symptom business 030215 immunology |
| Zdroj: | Journal of Pediatric Hematology/Oncology. 43:e250-e254 |
| ISSN: | 1077-4114 |
| Popis: | 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 αLELY 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. |
| Databáze: | OpenAIRE |
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