title: [Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: a case study and literature review of Korean patients].
abstract: Diamond-Blackfan anemia (DBA) is a rare congenital erythroid hypoplastic anemia that usually presents early in infancy and is inherited in up to 45% of cases. It is characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Corticosteroids and red blood cell transfusions are the mainstays of therapy. We describe a case of 3-month-old infant who presented with severe anemia, elevated levels of HbF and adenosine deaminase and bilateral hydronephrosis, who was later confirmed as DBA by mutation analysis using the direct sequencing method. Direct sequencing analysis of RPS19 gene was performed with both cDNA and genomic DNA extracted from peripheral blood and a c.3G>A point mutation of exon 2 resulting in p.Met1Ile was identified in this patient. The patient showed an inadequate response to steroid therapy and a partial response to RBC transfusion with a follow-up Hb level of 8.3 g/dL on her last visit to the outpatient clinic. DBA is a genetically and phenotypically heterogeneous disease, and we have reviewed the clinical characteristics of 25 Korean patients thus far reported in the literature. To our knowledge, this is the first case of DBA confirmed by mutation analysis in Korea, and mutation identification using molecular method is recommended for confirmation of this genetically and phenotypically heterogeneous disease.
authors.affiliation: Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Hyojin
authors.initials: H
authors.lastname: Chae
authors.forename: Joonhong
authors.initials: J
authors.lastname: Park
authors.forename: Myungshin
authors.initials: M
authors.lastname: Kim
authors.forename: Jihyang
authors.initials: J
authors.lastname: Lim
authors.forename: Yonggoo
authors.initials: Y
authors.lastname: Kim
authors.forename: Kyungja
authors.initials: K
authors.lastname: Han
authors.forename: Jaewook
authors.initials: J
authors.lastname: Lee
authors.forename: Nak Gyun
authors.initials: NG
authors.lastname: Chung
authors.forename: Bin
authors.initials: B
authors.lastname: Cho
authors.forename: Hack Ki
authors.initials: HK
authors.lastname: Kim
mesh_terms: D029503:Anemia, Diamond-Blackfan / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D044466:Asian People / Q000235:genetics*; D001853:Bone Marrow / Q000473:pathology; D017707:Erythrocyte Transfusion; D005091:Exons; D006801:Humans; D007223:Infant; D017354:Point Mutation; D056910:Republic of Korea; D012269:Ribosomal Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D012269:Ribosomal Proteins; C040343:ribosomal protein S19