Hereditary spherocytosis overlooked for 7 years in a pediatric patient with β-thalassemia trait and novel compound heterozygous mutations of SPTA1 gene
| Autor: | Faquan Lin, Lin Liao, Yuling Qiu, Min Chen, Xuelian Deng, Yu-Ping Ye |
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| Rok vydání: | 2020 |
| Předmět: |
Male
Heterozygote congenital hereditary and neonatal diseases and abnormalities Spherocytosis Hereditary Compound heterozygosity Genetic analysis Hereditary spherocytosis 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases Humans Medicine Child Gene Genetics business.industry beta-Thalassemia Spectrin Hematology medicine.disease Pediatric patient 030220 oncology & carcinogenesis Mutation Trait business β thalassemia trait 030215 immunology |
| Zdroj: | Hematology. 25:438-445 |
| ISSN: | 1607-8454 |
| DOI: | 10.1080/16078454.2020.1846874 |
| Popis: | Objectives: We aimed to determine the clinical and genetic characteristics of a boy diagnosed with the β-thalassemia trait. He also had hereditary spherocytosis (HS) that had been overlooked for 7 ... |
| Databáze: | OpenAIRE |
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