Children with GPI deficiency and their Clinical, laboratory, and mutational profile

Glucose phosphate isomerase (GPI) deficiency, an autosomal recessive condition, shows mutations in the GPI gene on chromosome 19q13.1. These Patients have congenital non-spherocytic hemolytic anemia and sometimes intellectual disability. 

A recent study by Sampagar A. et al. describes the clinical, hematological, and biochemical parameters in the 17 GPI-deficient cases. It recorded the demographic and clinical data and estimated red cell enzyme activity levels. 

The study found the male-to-female ratio was 0.7:1, the median age at diagnosis was 5.0 years, severe neonatal jaundice was present in 82.3% of patients, and subtle neurological manifestations were present in 13.3%. It found Median Hb and MCV levels as 6.3 g/dl and 130.2 fl., respectively. Splenectomized patients needed fewer transfusions. Sixteen of 17 patients showed the pathogenic c.1040G > A (p.Arg347His) homozygous mutation in exon12 of the GPI gene, and one showed the pathogenic c.1414C > T(p.Arg472Cys) homozygous mutation in exon 16. 

In summary, this study reported that neonatal jaundice, macrocytosis, and high prevalence of p.Arg347His variant are predominant in GPI deficiency with an apparent lack of neurological manifestations. It also emphasizes the benefits of splenectomy and the need for genetic counseling.

Int J Hematol. 2022 Feb;115(2):255-262. doi: 10.1007/s12185-021-03240-5. Epub 2021 Oct 27. PMID: 34704234.

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