Abstract
Congenital non-spherocytic hemolytic anemia (CNSHA) is a rare autosomal recessive condition that presents as a congenital hemolytic anemia. The absence of vital enzymes required for glycolysis such as homozygous glucose phosphate isomerase (GPI) and red blood cell (RBC) nucleotide metabolism predisposes the RBCs to hemolysis. No spherocytosis is seen on peripheral smear as well as no signs of immune-mediated destruction of RBCs. We present a rare case of a previously healthy 21-year-old female patient with CNSHA from India.
Highlights
The absence of vital enzymes required for glycolysis such as homozygous glucose phosphate isomerase (GPI) and red blood cell (RBC) nucleotide metabolism predisposes the RBCs to hemolysis
Congenital non-spherocytic hemolytic anemia (CNSHA) is an autosomal recessive condition that leads to a deficiency of vital enzymes required for glycolysis and red blood cell (RBC) nucleotide metabolism
Different enzymes deficiencies have been reported such as pyruvate kinase deficiency, hexokinase deficiency [2], pyrimidine 5’nucleotidase deficiency [3] and homozygous glucose phosphate isomerase (GPI) deficiency [4] causing a decrease in adenosine triphosphate (ATP) levels which eventually leads
Summary
Congenital non-spherocytic hemolytic anemia (CNSHA) is an autosomal recessive condition that leads to a deficiency of vital enzymes required for glycolysis and red blood cell (RBC) nucleotide metabolism. A previously healthy 21-year-old female patient born out of a non-consanguineous marriage presented at the emergency department of the Osmania General Hospital in India complaining vomiting and loose motion of unknown origin for five days On physical examination, she had no other systemic abnormalities and she was admitted for further tests. Due to the lack of appropriate laboratory facilities, the enzyme levels were not tested and the physicians relied more on the clinical presentation, physical examination and other laboratory results to make a clinical diagnosis of congenital non-spherocytic hemolytic anemia She was treated for anemia (hemoglobin level of 6.7 g/dL) with blood transfusions and additional symptomatic care such as proper hydration was initiated. The patient gradually improved over a week and was discharged
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