Abstract
Stomatocytosis and spherocytosis in a patient with novel heterozygous novel mutation in the erythrocyte protein 4.2 gene and parenteral nutrition-associated liver disease
Highlights
Hereditary spherocytosis (HS) is a type of inherited hemolytic anemia that is characterized by chronic, non-immune hemolysis with spherocytes on peripheral smear, high mean corpuscular hemoglobin concentration (MCHC) and increased osmotic fragility
We speculate that the concomitant occurrence of stomatocytosis and spherocytosis in this patient is a rare phenomenon as result of a combination of his genetic mutation and acquired risk factors for development of symptomatic hemolytic anemia
We present a unique case of concomitant occurrence of stomatocytosis and spherocytosis in a patient with heterozygous novel mutation in the erythrocyte protein 4.2 gene and parenteral nutrition-associated liver disease (PNALD)
Summary
Hereditary spherocytosis (HS) is a type of inherited hemolytic anemia that is characterized by chronic, non-immune hemolysis with spherocytes on peripheral smear, high mean corpuscular hemoglobin concentration (MCHC) and increased osmotic fragility. Deficiency of protein 4.2 secondary to autosomal recessive mutation in EPB42 gene is the most common cause of HS in Japan and is a very rare occurrence in Caucasian population. Heterozygous mutation in the gene (EPB42) encoding for protein 4.2 has never been shown to cause symptomatic hemolytic anemia [1]. We present a case of spherocytosis in a patient with parenteral nutrition-associated liver disease (PNALD) who was found to have a heterozygous novel mutation in the erythrocyte protein 4.2 gene. We speculate that the concomitant occurrence of stomatocytosis and spherocytosis in this patient is a rare phenomenon as result of a combination of his genetic mutation and acquired risk factors for development of symptomatic hemolytic anemia.
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