己糖激酶1缺乏症的一种罕见病因——病例报告
An Unusual Cause of Hexokinase 1 Deficiency-Case Report.
作者信息
Kilich Gonench, Maurer Kelly, Jadhav Tanaya, Jammihal Tejas, Zhang Zhe, Hartung Helge, Izumi Kosuki, Hassey Kelly, Raper Anna, Schindewolf Erica, Conlin Laura, Ganetzky Rebecca, Li Marilyn, Glader Bertil, Rajagopalan Ramakrishnan, Sullivan Kathleen E
机构信息
Division of Allergy Immunology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Division of Genomic Diagnostics Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
出版信息
EJHaem. 2025 Aug 23;6(4):e70123. doi: 10.1002/jha2.70123. eCollection 2025 Aug.
INTRODUCTION
Molecular analysis of red cell disorders has revolutionized diagnosis, however, there remain challenges.
MAIN SYMPTOMS
This patient presented with hemolytic anemia in the newborn period. He required chronic transfusions to maintain his hemoglobin level until 6 years of age. A splenectomy was performed at 3 years of age.
MAIN DIAGNOSES
Using whole genome sequencing, we were able to identify a duplication upstream of the red cell promoter of . Long-read RNA sequencing established aberrant expression off of this promoter.
CONCLUSIONS
These non-coding variants remain challenging to identify. His promoter duplication may have a founder effect in South Asia.
引言
红细胞疾病的分子分析彻底改变了诊断方式，然而，仍存在挑战。
主要症状
该患者在新生儿期出现溶血性贫血。他需要长期输血以维持血红蛋白水平，直至6岁。3岁时进行了脾切除术。
主要诊断
通过全基因组测序，我们能够鉴定出红细胞启动子上游的一段重复序列。长读长RNA测序确定了该启动子的异常表达。
结论
这些非编码变异仍难以识别。他的启动子重复序列可能在南亚具有奠基者效应。
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