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An Unusual Cause of Hexokinase 1 Deficiency-Case Report
Gonench Kilich1, Kelly Maurer1, Tanaya Jadhav2
1Division of Allergy Immunology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Ejhaem
|August 27, 2025
Summary
Genetic analysis identified a novel promoter duplication in the red cell HK1 gene, explaining a patient's lifelong hemolytic anemia. This finding highlights challenges in diagnosing non-coding variants.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Molecular analysis has advanced red cell disorder diagnosis, but challenges persist.
- Hemolytic anemia in newborns can necessitate lifelong interventions like transfusions and splenectomy.
Purpose of the Study:
- To identify the genetic cause of severe, transfusion-dependent hemolytic anemia in a pediatric patient.
- To investigate the role of non-coding genetic variants in red cell disorders.
Main Methods:
- Whole genome sequencing to detect structural variations.
- Long-read RNA sequencing to assess gene expression.
- Analysis of promoter regions and gene regulation.
Main Results:
- A duplication upstream of the red cell promoter of the HK1 gene was identified.
- Aberrant gene expression from the affected promoter was confirmed via RNA sequencing.
- The identified non-coding variant may have a founder effect in South Asian populations.
Conclusions:
- Non-coding variants, such as promoter duplications, present diagnostic challenges in red cell disorders.
- Advanced sequencing techniques are crucial for identifying complex genetic causes.
- Understanding founder effects is important for genetic counseling in specific populations.
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