A previously unrecognized Ankyrin‐1 mutation associated with Hereditary Spherocytosis in an Italian family
| Autor: | Ilaria Lazzareschi, Antonio Gatto, Antonietta Curatola, Cristina Pedicelli, Daniele Castiglia, Danilo Buonsenso, Giorgio Attinà, Piero Valentini |
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| Rok vydání: | 2019 |
| Předmět: |
Ankyrins
Male Hemolytic anemia Spherocytosis Biology Hereditary spherocytosis 03 medical and health sciences symbols.namesake 0302 clinical medicine ANK1 medicine Humans Point Mutation Ankyrin Family Child Preschool Genetics Sanger sequencing chemistry.chemical_classification High-Throughput Nucleotide Sequencing Hematology General Medicine medicine.disease pediatric hematology Red blood cell Hereditary medicine.anatomical_structure Italy Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA Membrane protein chemistry 030220 oncology & carcinogenesis molecular cytogenetics red cell disorders Child Preschool Female Spherocytosis Hereditary Mutation (genetic algorithm) symbols 030215 immunology |
| Zdroj: | European Journal of Haematology. 103:523-526 |
| ISSN: | 1600-0609 0902-4441 |
| Popis: | Hereditary spherocytosis is the most common inherited hemolytic anemia characterized by the presence of spherical-shaped erythrocytes on peripheral blood smear. The clinical manifestations of HS are highly variable, from severe forms to asymptomatic forms. HS is caused by defects in red blood cell membrane proteins, encoded by the ANK1, EPB42, SLC4A1, SPTA1 and SPTB genes. Mutation of the ANK 1 gene is the most common and inheritance is autosomal dominant in 75% of cases. In our case, heterozygous an ANK1 c.4123C > T mutation was identified in a 4-year-old girl, using targeted next-generation sequencing and Sanger sequencing. |
| Databáze: | OpenAIRE |
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