Search

Notably, as one of the endemic regions of thalassaemia,[8] more than 40% of Indian GPI deficiency patients are misdiagnosed as having -thalassaemia major, mainly due to the overlap of clinical phenotypes.[7] The patient in this study is a native of a region with a high incidence of thalassaemia, and she was also misdiagnosed with -thalassaemia intermedia, which deserves further consideration. GPI deficiency patients generally show macrocytosis (MCV>100 fL), whereas thalassaemia patients show microcytosis (MCV<80 fL).[[7], [9]] Co-inheritance thalassaemia mutation led to the MCV value (80.8 fL) of this patient being close to the lower limit of reference, interfering with the diagnosis based on red-cell parameters. Abbreviations AD autosomal dominant ALP alkaline phosphatase AR autosomal recessive CNSHA chronic non-spherocytic haemolytic anaemia G6PD glucose-6-phosphate dehydrogenase GPI glucose-6-phosphate isomerase HHA hereditary haemolytic anaemia HS hereditary spherocytosis IBIL indirect bilirubin LDH lactate dehydrogenase MCV mean cell volume RBC red blood cell TBIL total bilirubin WES whole-exome sequencing Hereditary haemolytic anaemia (HHA) encompasses a diverse group of disorders with high genetic and phenotypic heterogeneity characterized by varying degrees of anaemia and haemolysis, jaundice, hepatosplenomegaly, etc.[[1]] HHA is divided into three categories: red blood cell (RBC) membranopathy, RBC enzymopathy and haemoglobinopathy. Identification of haemolytic anaemia caused by glucose phosphate isomerase deficiency in a thalassaemia-endemic region: Correction of misdiagnosis and consideration of the cause of misdiagnosis. [Extracted from the article]