Your browser doesn't support javascript.
loading
Montrer: 20 | 50 | 100
Résultats 1 - 2 de 2
Filtre
Ajouter des filtres








Gamme d'année
1.
Clinical Pediatric Hematology-Oncology ; : 136-139, 2017.
Article Dans Anglais | WPRIM | ID: wpr-788608

Résumé

In Korea, recent epidemiologic studies show that the incidence of β-thalassemia is increasing as the influx of South-East Asian population increases and molecular technologies develop. However, many patients are still misdiagnosed as iron deficiency anemia (IDA). All patients with microcytic anemia need to perform evaluation including reticulocyte index, Mentzer index, and iron studies. Considering the increasing incidence of β-thalassemia, hemoglobin beta globulin (HBB) gene sequencing should be performed if suspicious. In our cases, patients whose parents were both Koreans were confirmed to have β-thalassemia with a substitution in c1, ATG>GTG, and deletion of the HBB gene. In Korea, initiation condon ATG>AGG (20.9%) is most common mutation, followed by codon 17 (A>T) (17.6%), codon 121 (G>T) (12.1%), and so on. We report two cases of β-thalassemia diagnosed by genetic testing for microcytic anemia.


Sujets)
Humains , Anémie , Anémie par carence en fer , Asiatiques , bêta-Globulines , bêta-Thalassémie , Codon , Études épidémiologiques , Dépistage génétique , Incidence , Fer , Corée , Parents , Réticulocytes
2.
Clinical Pediatric Hematology-Oncology ; : 136-139, 2017.
Article Dans Anglais | WPRIM | ID: wpr-23106

Résumé

In Korea, recent epidemiologic studies show that the incidence of β-thalassemia is increasing as the influx of South-East Asian population increases and molecular technologies develop. However, many patients are still misdiagnosed as iron deficiency anemia (IDA). All patients with microcytic anemia need to perform evaluation including reticulocyte index, Mentzer index, and iron studies. Considering the increasing incidence of β-thalassemia, hemoglobin beta globulin (HBB) gene sequencing should be performed if suspicious. In our cases, patients whose parents were both Koreans were confirmed to have β-thalassemia with a substitution in c1, ATG>GTG, and deletion of the HBB gene. In Korea, initiation condon ATG>AGG (20.9%) is most common mutation, followed by codon 17 (A>T) (17.6%), codon 121 (G>T) (12.1%), and so on. We report two cases of β-thalassemia diagnosed by genetic testing for microcytic anemia.


Sujets)
Humains , Anémie , Anémie par carence en fer , Asiatiques , bêta-Globulines , bêta-Thalassémie , Codon , Études épidémiologiques , Dépistage génétique , Incidence , Fer , Corée , Parents , Réticulocytes
SÉLECTION CITATIONS
Détails de la recherche