A novel PKLR gene mutation identified using advanced molecular techniques.
This study's purposes were to diagnose intractable hemolytic anemia and to provide guiding treatment for the affected family members. We performed NGS in a panel of 600 genes for blood diseases on a patient with obscure hemolytic anemia and her parents. We confirmed the diagnosis of pyruvate kinase deficiency, identified a novel homozygous mutation of the PKLR gene (NM_000298: exon 6: c.T941C: p.I314T), and ruled out other blood diseases in the Chinese family. Furthermore, amniotic fluid was taken from the mother during the second trimester, and DNA was extracted to analyze the type of PKLR gene mutation. The proband received cord blood and bone marrow from the second child of the mother for hematopoietic stem cell transplantation and achieved normal hematopoiesis. The genetic characterization analysis and genotype-phenotype correlation study of PKLR gene suggested that NGS was an effective method to confirm the molecular diagnosis of intractable hemolytic anemia. The identification of the mutation aided in prenatal diagnosis in the second pregnancy and the effective clinical management of the affected family.
['He|Yunyan|Y|', 'Luo|Jianming|J|', 'Lei|Yonghong|Y|', 'Jia|Siyuan|S|', 'Liao|Ning|N|0000-0002-0836-9043']
D000746:Anemia, Hemolytic, Congenital Nonspherocytic D002675:Child, Preschool D002681:China D005260:Female D005819:Genetic Markers D005820:Genetic Testing D006720:Homozygote D006801:Humans D007223:Infant D007231:Infant, Newborn D008297:Male D009154:Mutation D011247:Pregnancy D011296:Prenatal Diagnosis D011770:Pyruvate Kinase D015323:Pyruvate Metabolism, Inborn Errors
PKLR gene hemolytic anemia pyruvate kinase deficiency transplantation next-generation sequencing