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Pediatr Blood Cancer. 2016 May;63(5):914-6. doi: 10.1002/pbc.25878. Epub 2016 Jan 5.

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.

Author information

1
St. Anna Children's Hospital, Department of Pediatrics, Medical University Vienna.
2
Children's Cancer Research Institute.
3
Department of Pediatrics, Hospital Rudolfstiftung.
4
medgen.at GmbH.
5
Department of Laboratory Medicine, Medical University Vienna.
6
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences.
7
Department of Laboratory Medicine, Hospital Rudolfstiftung, Vienna, Austria.

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.

KEYWORDS:

anemias; hematology nonmalignant; red blood cell disorders; transfusion

Comment in

PMID:
26728349
DOI:
10.1002/pbc.25878
[Indexed for MEDLINE]

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