Unusual cause of haemolytic anaemia: Glucose phosphate isomerase deficiency

• 主要な著者: Mukesh Dhankar (著者), Piali Mandal (著者), Robin Singh (著者)
• フォーマット: 図書
• 出版事項: Elsevier, 2024-12-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Introduction: Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). It is caused by homozygous or compound heterozygous mutation of the GPI gene on chromosome 19q13. Approximately 57 GPI mutations have been...