Danish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
J Med Case Rep. 2024 Mar 28;18(1):130. doi: 10.1186/s13256-024-04466-7.
Glucose-6-phosphate isomerase deficiency is a rare genetic disorder causing hereditary nonspherocytic hemolytic anemia. It is the second most common glycolytic enzymopathy in red blood cells. About 90 cases are reported worldwide, with symptoms including chronic hemolytic anemia, jaundice, splenomegaly, gallstones, cholecystitis, and in severe cases, neurological impairments, hydrops fetalis, and neonatal death.
This paper details the case of the first Danish patient diagnosed with glucose-6-phosphate isomerase deficiency. The patient, a 27-year-old white female, suffered from lifelong anemia of unknown origin for decades. Diagnosis was established through whole-genome sequencing, which identified two GPI missense variants: the previously documented variant p.(Thr224Met) and a newly discovered variant p.(Tyr341Cys). The pathogenicity of these variants was verified enzymatically.
Whole-genome sequencing stands as a potent tool for identifying hereditary anemias, ensuring optimal management strategies.
葡萄糖-6-磷酸异构酶缺乏症是一种罕见的遗传性疾病，可导致遗传性非球形红细胞溶血性贫血。它是红细胞中第二常见的糖酵解酶病。全世界约有 90 例报道，其症状包括慢性溶血性贫血、黄疸、脾肿大、胆结石、胆囊炎，在严重情况下还会出现神经损伤、胎儿水肿和新生儿死亡。
本文详细介绍了首例丹麦葡萄糖-6-磷酸异构酶缺乏症患者的病例。该患者是一名 27 岁的白人女性，几十年来一直患有不明原因的终生贫血。通过全基因组测序确定了该诊断，该测序发现了两种 GPI 错义变异：先前记录的变异 p.(Thr224Met)和新发现的变异 p.(Tyr341Cys)。这些变异的致病性通过酶学方法得到了验证。
全基因组测序是识别遗传性贫血的有效工具，可确保制定最佳管理策略。
