MOLECULAR DIAGNOSIS OF RBC ENZYMOPATHY BY MULTI-GENE TARGET SEQUENCING IN KOREA
(Abstract release date: 05/19/16)
EHA Library. Lee D. 06/09/16; 135016; PB2116
Prof. Dong Soon Lee
Contributions
Contributions
Abstract
Abstract: PB2116
Type: Publication Only
Background
RBC enzymopathy occurs due to the intrinsic deficiency or a defect in red blood cell (RBC) enzyme and defective function of RBC enzyme causes hemolysis. Practically, functional analysis of enzymes related to RBC enzymopathy are not available easily. Furthermore, differential diagnosis form paroxysmal nocturnal hemoglobinuria, hemoglobinopathy and congental dyseryhtropoiesis is required.
Aims
We aimed to investigate the frequnecy and patterns of gene mutation relevant to RBC enzyme in Korea.
Methods
We performed targeted sequencing in 15 patients suspected for RBC enzymopathy in whom RBC membranopathy was excluded after laboratory workup. Forty two genes were targeted including 20 genes relevant with enzymopathy and 17 genes relevant with RBC memebranopathy. For the differential diagnosis, Phosphatidylinositol Glycan Anchor Biosynthesis Class A (PIGA gene), 3 thalassemia genes (hemoglobin alpha1, hemoglobin alpha2, hemoglobin beta, and hemoglobin beta), and congenital dyserythropoietic anemia II gene (Sec23 homolog B) were included in target sequencing, additionally. Targeted sequencing of 42 selected genes was performed using IlluminaHiSeq 2500. Putative mutations were analyzed in comparison to normal reference control population.
Results
The mean sequencing depth for the 60 samples was 984X (range 534–1171X). PKLR mutation in 10 patients, ALDOB mutation in 1 patient and G6PD mutation in 1 patients. Of note, gene mutation related to PNH and thalassemia were detected in 2 patients; PIGA mutation in 1 patient and thalassemia alpha point mutation in 1 patient. Among 15 patients, no mutation was detected in 1 patient. Collectively, target sequencing revealed gene mutations related to RBC enzymopathy in 80% and gene mutations other than enzymopathy in 13.3% among 15 patients suspected for enzymopathy in Korea.
Conclusion
Distribution of RBC enzymopathy mutations was similar between USA and Korea. Considering that 13.3% of patients showed gene mutaions unrelevant to RBC enzymopathy, molecular analysis of RBC enzymopathy is necessary for clinical diagnosis.
Session topic: E-poster
Keyword(s): Red blood cell
Type: Publication Only
Background
RBC enzymopathy occurs due to the intrinsic deficiency or a defect in red blood cell (RBC) enzyme and defective function of RBC enzyme causes hemolysis. Practically, functional analysis of enzymes related to RBC enzymopathy are not available easily. Furthermore, differential diagnosis form paroxysmal nocturnal hemoglobinuria, hemoglobinopathy and congental dyseryhtropoiesis is required.
Aims
We aimed to investigate the frequnecy and patterns of gene mutation relevant to RBC enzyme in Korea.
Methods
We performed targeted sequencing in 15 patients suspected for RBC enzymopathy in whom RBC membranopathy was excluded after laboratory workup. Forty two genes were targeted including 20 genes relevant with enzymopathy and 17 genes relevant with RBC memebranopathy. For the differential diagnosis, Phosphatidylinositol Glycan Anchor Biosynthesis Class A (PIGA gene), 3 thalassemia genes (hemoglobin alpha1, hemoglobin alpha2, hemoglobin beta, and hemoglobin beta), and congenital dyserythropoietic anemia II gene (Sec23 homolog B) were included in target sequencing, additionally. Targeted sequencing of 42 selected genes was performed using IlluminaHiSeq 2500. Putative mutations were analyzed in comparison to normal reference control population.
Results
The mean sequencing depth for the 60 samples was 984X (range 534–1171X). PKLR mutation in 10 patients, ALDOB mutation in 1 patient and G6PD mutation in 1 patients. Of note, gene mutation related to PNH and thalassemia were detected in 2 patients; PIGA mutation in 1 patient and thalassemia alpha point mutation in 1 patient. Among 15 patients, no mutation was detected in 1 patient. Collectively, target sequencing revealed gene mutations related to RBC enzymopathy in 80% and gene mutations other than enzymopathy in 13.3% among 15 patients suspected for enzymopathy in Korea.
Conclusion
Distribution of RBC enzymopathy mutations was similar between USA and Korea. Considering that 13.3% of patients showed gene mutaions unrelevant to RBC enzymopathy, molecular analysis of RBC enzymopathy is necessary for clinical diagnosis.
Session topic: E-poster
Keyword(s): Red blood cell
Abstract: PB2116
Type: Publication Only
Background
RBC enzymopathy occurs due to the intrinsic deficiency or a defect in red blood cell (RBC) enzyme and defective function of RBC enzyme causes hemolysis. Practically, functional analysis of enzymes related to RBC enzymopathy are not available easily. Furthermore, differential diagnosis form paroxysmal nocturnal hemoglobinuria, hemoglobinopathy and congental dyseryhtropoiesis is required.
Aims
We aimed to investigate the frequnecy and patterns of gene mutation relevant to RBC enzyme in Korea.
Methods
We performed targeted sequencing in 15 patients suspected for RBC enzymopathy in whom RBC membranopathy was excluded after laboratory workup. Forty two genes were targeted including 20 genes relevant with enzymopathy and 17 genes relevant with RBC memebranopathy. For the differential diagnosis, Phosphatidylinositol Glycan Anchor Biosynthesis Class A (PIGA gene), 3 thalassemia genes (hemoglobin alpha1, hemoglobin alpha2, hemoglobin beta, and hemoglobin beta), and congenital dyserythropoietic anemia II gene (Sec23 homolog B) were included in target sequencing, additionally. Targeted sequencing of 42 selected genes was performed using IlluminaHiSeq 2500. Putative mutations were analyzed in comparison to normal reference control population.
Results
The mean sequencing depth for the 60 samples was 984X (range 534–1171X). PKLR mutation in 10 patients, ALDOB mutation in 1 patient and G6PD mutation in 1 patients. Of note, gene mutation related to PNH and thalassemia were detected in 2 patients; PIGA mutation in 1 patient and thalassemia alpha point mutation in 1 patient. Among 15 patients, no mutation was detected in 1 patient. Collectively, target sequencing revealed gene mutations related to RBC enzymopathy in 80% and gene mutations other than enzymopathy in 13.3% among 15 patients suspected for enzymopathy in Korea.
Conclusion
Distribution of RBC enzymopathy mutations was similar between USA and Korea. Considering that 13.3% of patients showed gene mutaions unrelevant to RBC enzymopathy, molecular analysis of RBC enzymopathy is necessary for clinical diagnosis.
Session topic: E-poster
Keyword(s): Red blood cell
Type: Publication Only
Background
RBC enzymopathy occurs due to the intrinsic deficiency or a defect in red blood cell (RBC) enzyme and defective function of RBC enzyme causes hemolysis. Practically, functional analysis of enzymes related to RBC enzymopathy are not available easily. Furthermore, differential diagnosis form paroxysmal nocturnal hemoglobinuria, hemoglobinopathy and congental dyseryhtropoiesis is required.
Aims
We aimed to investigate the frequnecy and patterns of gene mutation relevant to RBC enzyme in Korea.
Methods
We performed targeted sequencing in 15 patients suspected for RBC enzymopathy in whom RBC membranopathy was excluded after laboratory workup. Forty two genes were targeted including 20 genes relevant with enzymopathy and 17 genes relevant with RBC memebranopathy. For the differential diagnosis, Phosphatidylinositol Glycan Anchor Biosynthesis Class A (PIGA gene), 3 thalassemia genes (hemoglobin alpha1, hemoglobin alpha2, hemoglobin beta, and hemoglobin beta), and congenital dyserythropoietic anemia II gene (Sec23 homolog B) were included in target sequencing, additionally. Targeted sequencing of 42 selected genes was performed using IlluminaHiSeq 2500. Putative mutations were analyzed in comparison to normal reference control population.
Results
The mean sequencing depth for the 60 samples was 984X (range 534–1171X). PKLR mutation in 10 patients, ALDOB mutation in 1 patient and G6PD mutation in 1 patients. Of note, gene mutation related to PNH and thalassemia were detected in 2 patients; PIGA mutation in 1 patient and thalassemia alpha point mutation in 1 patient. Among 15 patients, no mutation was detected in 1 patient. Collectively, target sequencing revealed gene mutations related to RBC enzymopathy in 80% and gene mutations other than enzymopathy in 13.3% among 15 patients suspected for enzymopathy in Korea.
Conclusion
Distribution of RBC enzymopathy mutations was similar between USA and Korea. Considering that 13.3% of patients showed gene mutaions unrelevant to RBC enzymopathy, molecular analysis of RBC enzymopathy is necessary for clinical diagnosis.
Session topic: E-poster
Keyword(s): Red blood cell
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