An Unusual Cause of Hexokinase 1 Deficiency—Case Report

Abstract

ABSTRACT 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 HK1. 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.

Keywords

• case report
• hereditary hemolytic anemia
• non‐coding mutation