关键词: 葡萄糖磷酸异构酶缺乏症; GPI基因; 溶血性贫血; 基因突变

Abstract: Objective　To explore the clinical characteristics and pathogenic genes of glucose-6-phosphate isomerase (GPI)?deficiency.?Method? The?clinical?data?of?GPI?deficiency?in?a?child?was?retrospectively?analyzed,?and?the?related?literature? was?reviewed.?Results? A?4-year-?and?3-month-old?boy?suffered?from?repeated?anemia?and?jaundice?since?birth,?accompanied? by?hepatosplenomegaly,?knee?joint?pain?and?gross?motor?development?retardation.?No?abnormality?was?found?in?G6PD?enzyme,? pyruvate?kinase,?hemoglobin?electrophoresis,?direct?Coombs?test,?erythrocyte?fragility?and?bone?marrow?cytological?examination.? Knee?joint?MRI?showed?a?small?amount?of?fluid?and?synovitis?in?both?knee?joints.?Whole?exome?sequencing?showed?that?there?was? a?homozygous?missense?mutation,?c.553T>A?(F185I),?in?exon?6?of?the?GPI?gene.?Sanger?sequencing?verified?that?they?were?from? their?parents?and?it?was?a?new?mutation?not?reported?before.?The?mutation?was?pathogenic.?Conclusion? GPI?deficiency?is?a?rare? autosomal?recessive?genetic?disease,?and?early?genetic?testing?can?assist?in?the?diagnosis.

Key words: 　glucose-6-phosphate?isomerase?deficiency;? GPI gene; hemolytic anemia; gene mutation