Clinical Characteristics of Pediatric Thalassemia in Korea: A Single Institute Experience.
10.3346/jkms.2013.28.11.1645
- Author:
Che Ry HONG
1
;
Hyoung Jin KANG
;
Ji Won LEE
;
Hyery KIM
;
Nam Hee KIM
;
Kyung Duk PARK
;
June Dong PARK
;
Moon Woo SEONG
;
Sung Sup PARK
;
Hee Young SHIN
;
Hyo Seop AHN
Author Information
1. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. hyshin@snu.ac.kr
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
alpha-Thalassemia;
beta-Thalassemia;
Genotype;
Phenotype;
Child;
Korea
- MeSH:
Blood Transfusion;
Child;
Child, Preschool;
Female;
Genotype;
Hemoglobin A, Glycosylated/genetics;
Hemoglobin A2/genetics;
Humans;
Male;
Medical Records/statistics & numerical data;
Prevalence;
Republic of Korea/epidemiology;
Retrospective Studies;
alpha-Globins/*genetics;
alpha-Thalassemia/diagnosis/epidemiology/*genetics;
beta-Globins/*genetics;
beta-Thalassemia/diagnosis/epidemiology/*genetics
- From:Journal of Korean Medical Science
2013;28(11):1645-1649
- CountryRepublic of Korea
- Language:English
-
Abstract:
Few literatures have elaborated on the clinical characteristics of children with thalassemia from low-prevalence areas. A retrospective analysis was conducted on children genetically confirmed with thalassemia at Seoul National University Children's Hospital in Korea. Nine children (1alpha thalassemia trait, 6beta thalassemia minor, 2beta thalassemia intermedia) were diagnosed with thalassemia at median age of 4.3 yr old with median hemoglobin of 9.7 g/dL. Seven (78%) children were incidentally found to be anemic and only 2 with beta thalassemia intermedia had presenting symptoms. Five children (56%) were initially misdiagnosed with iron deficiency anemia. Despite the comorbidities due to alpha thalassemia mental retardation syndrome, the child with alpha thalassemia trait had mild hematologic profile. Children with beta thalassemia intermedia had the worst phenotypes due to dominantly inherited mutations. None of the children was transfusion dependent and most of them had no complications associated with thalassemia. Only 1 child (11%) with codon 60 (T-->A) mutation of the HBB gene needed red blood cell transfusions. He also had splenomegaly, cholelithiasis, and calvarial vault thickening. Pediatricians in Korea must acknowledge thalassemia as a possible diagnosis in children with microcytic hypochromic hemolytic anemia. High level of suspicion will allow timely diagnosis and managements.
