Diamond-Blackfan Anemia Confirmed by RPS19 Gene Mutation Analysis: A Case Study and Literature Review of Korean Patients / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
; : 249-254, 2010.
Article
en Ko
| WPRIM
| ID: wpr-164241
Biblioteca responsable:
WPRO
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.
Palabras clave
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Proteínas Ribosómicas
/
Médula Ósea
/
Exones
/
Análisis de Secuencia de ADN
/
Mutación Puntual
/
Transfusión de Eritrocitos
/
Anemia de Diamond-Blackfan
/
Pueblo Asiatico
/
República de Corea
Tipo de estudio:
Prognostic_studies
Límite:
Humans
/
Infant
País/Región como asunto:
Asia
Idioma:
Ko
Revista:
The Korean Journal of Laboratory Medicine
Año:
2010
Tipo del documento:
Article