Two Novel Missense Mutations and a 5bp Deletion in the Erythroid‐Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion‐Dependent Chronic Nonspherocytic Hemolytic Anemia. Issue 5 (5th January 2016)

• Record Type: Journal Article
• Authors: Kager, Leo; Minkov, Milen; Zeitlhofer, Petra; Fahrner, Bernhard; Ratzinger, Franz; Boztug, Kaan; Dossenbach‐Glaninger, Astrid; Haas, Oskar A.
• Is Part Of: Pediatric blood & cancer. Volume 63:Issue 5(2016:)
• Page Start: 914
• Page End: 916
• Publication Date: 2016-01-05
• Subjects: anemias -- hematology nonmalignant -- red blood cell disorders -- transfusion; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.25878
• Languages: English
• ISSNs: 1545-5009

Abstract

Abstract : We report two children with severe chronic hemolytic anemia, the cause of which was difficult to establish because of transfusion dependency. Reduced erythrocyte pyruvate kinase activity in their asymptomatic parents provided the diagnostic clues for mutation screening of the PKLR gene and revealed that one child was a compound heterozygote of a novel paternally derived 5‐bp deletion in the promoter region (c.‐88_‐84delTCTCT) and a maternally derived missense mutation in exon nine (c.1174G>A; p.Ala392Thr). The second child was a compound heterozygote of two novel missense mutations, namely a paternally derived exon ten c.1381G>A (p.Glu461Lys) and a maternally derived exon seven c.907‐908delCC (p.Pro303GlyfsX12) variant.