Glucose 6 Phosphate Isomerase Deficiency, a Rare Hemolytic Anemia Misdiagnosed as Hereditary Spherocytosis

被引:2
|
作者
Sussman, Raizl Gruda [1 ,2 ]
Yan, Adam Paul [1 ,2 ,4 ]
Baker, Jillian M. [1 ,2 ,3 ]
机构
[1] Hosp Sick Children, 555 Univ St, Toronto, ON M5G 1X8, Canada
[2] Univ Toronto, Toronto, ON, Canada
[3] Univ Toronto, St Michaels Hosp, Unity Hlth Toronto, Toronto, ON, Canada
[4] Harvard Med Sch, Boston Childrens Hosp, Boston, MA, Brazil
关键词
hemolytic anemia; GPI deficiency; hereditary spherocytosis; variant of unknown significance; GPI DEFICIENCY;
D O I
10.1097/MPH.0000000000002544
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Hereditary hemolytic anemias are a heterogenous group of disorders that include membranopathies, enzymopathies, and hemoglobinopathies. Genetic testing is helpful in the diagnostic workup when the clinical and laboratory workup is not conclusive. Here, we present a case of a 21-month-old female who was initially diagnosed with hereditary spherocytosis based on the presence of a variant of unknown significance in the SPTB gene. Further genetic workup revealed a homozygous glucose 6 phosphate isomerase mutation and the patient was ultimately diagnosed with glucose 6 phosphate isomerase deficiency.
引用
收藏
页码:41 / 43
页数:3
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