Concurrent Case of Glucose-6-Phosphate Deficiency and Dehydrated Hereditary Stomatocytosis in a 4-Month-old Boy

Area of Science:

• Hematology
• Genetics
• Pediatrics

Background:

• Glucose-6-phosphate (G6PD) deficiency is the most common enzyme deficiency globally, affecting 400 million people, typically diagnosed after hemolytic episodes.
• Dehydrated hereditary stomatocytosis (DHSt) is a rare inherited hemolytic anemia affecting <1 in 1,000,000, characterized by red blood cell dehydration and decreased flexibility.
• Both G6PD deficiency and DHSt are inherited hemolytic anemias, but their concurrent occurrence in a single patient has not been previously documented.

Purpose of the Study:

• To report the first documented case of a 4-month-old male infant with concurrent Glucose-6-phosphate (G6PD) deficiency and dehydrated hereditary stomatocytosis (DHSt).
• To discuss the clinical presentation and hematopathology findings associated with this rare dual diagnosis.
• To provide a comparative literature review and guide future investigation and management strategies for coexisting inherited hemolytic anemias.

Main Methods:

• Case report of a 4-month-old male infant.
• Clinical presentation analysis.
• Hematopathology evaluation.
• Literature review of G6PD deficiency and DHSt.

Main Results:

• The patient presented with concurrent G6PD deficiency and DHSt, a combination previously unreported.
• Detailed clinical and hematopathological findings were documented for this unique case.
• A comparative literature review was conducted to contextualize the findings.

Conclusions:

• This case represents the first documented instance of concurrent G6PD deficiency and DHSt in a single patient.
• The findings contribute to the understanding of rare inherited hemolytic anemias and their potential co-occurrence.
• This report aims to inform future diagnostic approaches and therapeutic management for patients with combined G6PD deficiency and DHSt.