WES unexpectedly identified gene mutations known to cause congenital hemolytic anemia in two patients: canonical G6PDp.Val394Leu mutation and SPTA1 p.Arg28His mutation.
We have investigated two unrelated patients with congenital haemolytic anaemia in both of whom we found a combination of hereditary spherocytosis (HS) and glucose-6-phosphate dehydrogenase (G6PD) deficiency.
Since the discovery of glucose 6-phosphate dehydrogenase (G6PD) and of pyruvate kinase deficiencies, erythroenzymopathies associated with hereditary hemolytic anemia have been extensively investigated.