Pyruvate kinase deficiency and G6PD deficiency

Prevalence of Pyruvate Kinase Deficiency among the Newborns (Shiraz-Iran)

Background: The frequency of pyruvate kinase (PK) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in Shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. The purpose of this study is to obtain data on the frequency and spectrum of gene mutation of PK in newborns, from Shiraz and surrounding areas. Materials and Methods...

Pyruvate kinase deficiency.

G6PD deficiency.

T HIRTY-FIVE YEARS ago Dr William Dameshek, the first editor of the emerging journal Blood, invited me to write a review on “The Hemolytic Effect of Primaquine.”’ At the time, primaquine sensitivity, which had just recently been shown to be caused by a deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD); represented a unique example of an inherited deficiency of an enzyme that cau...

Pyruvate Kinase Deficiency (PKD) — Symptoms and Treatment

Pyruvate kinase deficiency is an inherited metabolic disorder characterized by a deficiency in the enzyme "pyruvate kinase" causing hemolytic anemia. It is more severe in early presentation, and it has no sex predilection. The majority of the cases occur because of genetic mutation while some may be caused by diseases such as leukemia and refractory sideroblastic anemia. PKD presents with sever...

Pyruvate Kinase Deficiency (PKD) — Symptoms and Treatment

Pyruvate kinase deficiency is an inherited metabolic disorder characterized by a deficiency in the enzyme "pyruvate kinase" causing hemolytic anemia. It is more severe in early presentation, and it has no sex predilection. The majority of the cases occur because of genetic mutation while some may be caused by diseases such as leukemia and refractory sideroblastic anemia. PKD presents with sever...