J Korean Med Sci.  2013 Nov;28(11):1645-1649. 10.3346/jkms.2013.28.11.1645.

Clinical Characteristics of Pediatric Thalassemia in Korea: A Single Institute Experience

• Hong CR
• Kang HJ
• Lee JW
• Kim H
• Kim NH
• Park KD
• Park JD
• Seong MW
• Park SS
• Shin HY
• Ahn HS

• KMID: 1777663
• DOI: http://doi.org/10.3346/jkms.2013.28.11.1645

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.

Keyword

alpha-Thalassemia; beta-Thalassemia; Genotype; Phenotype; Child; Korea

MeSH Terms

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
Hemoglobin A, Glycosylated
Hemoglobin A2
alpha-Globins
beta-Globins

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