Article
Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing.
Archives of Iranian medicine - 1 Oct 2022
Mehrabi Sisakht Jafar, Mehri Maghsood, Najmabadi Hossein, Azarkeivan Azita, Neishabury Maryam
Abstract excerpt
BACKGROUND: After ruling out the most common causes of severe hemolytic anemia by routine diagnostic tests, certain patients remain without a diagnosis. The aim of this study was to elucidate the genetic cause of the disease in these patients using next generation sequencing (NGS). METHODS: Four unrelated Iranian families including six blood transfusion dependent cases and their parents were referred to us from a...
Topics
- Pyruvate Metabolism, Inborn Errors
- Iran
- Pyruvate Kinase
- Infant, Newborn
- Exome Sequencing
- Mutation
- Anemia, Hemolytic
- Humans
- Anemia, Hemolytic, Congenital Nonspherocytic