Abstract |
Glucose phosphate isomerase (GPI) deficiency is the second most common red blood cell enzymopathy involving the glycolysis pathway. It is an autosomal recessive disorder. Chronic hemolytic anemia is a common manifestation. The most severe one can present as hydrops fetalis. It can also be associated with neurologic dysfunction. We report a girl with severe hemolytic anemia at birth because of GPI deficiency. Enzyme activity assays were inconclusive because of previous blood transfusions. She was found to be compound heterozygous for 2 novel missense mutations, c.490C>A p.(Pro164Thr) and c.817C>T p.(Arg273Cys), in the GPI gene. Other than the chronic hemolytic anemia, she also has mild fine motor, gross motor delay, and developed cerebella ataxia since 5 years old.
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Authors | Wing-Shan Q See, Chi-Chiu J So, Daniel Ka-Leung Cheuk, Richard van Wijk, Shau-Yin Ha |
Journal | Journal of pediatric hematology/oncology
(J Pediatr Hematol Oncol)
Vol. 42
Issue 7
Pg. e696-e697
(10 2020)
ISSN: 1536-3678 [Electronic] United States |
PMID | 31415279
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Cytokines
- GPI protein, human
- Glucose-6-Phosphate Isomerase
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Topics |
- Anemia, Hemolytic, Congenital
(etiology, pathology)
- Cytokines
(genetics)
- Female
- Glucose-6-Phosphate Isomerase
(genetics)
- Humans
- Infant, Newborn
- Mutation, Missense
- Prognosis
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