|
KMID : 0366220130480030211
|
|
Korean Journal of Hematology
2013 Volume.48 No. 3 p.211 ~ p.216
|
|
|
Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology
|
|
Park Eun-Sil
Jung Hye-Lim
Kim Hee-Jin
Park Sung-Sup
Shin Hee-Young
Song Sang-Hoon
Bae Soon-Hwan
Hah Jeong-Ok
Koh Kyung-Nam
Lyu Chuhl-Joo
Lim Young-Tak
Han Dong-Kyun
|
|
|
Abstract
|
|
|
Background: The number of patients diagnosed with hereditary hemolytic anemia (HHA) has increased since the advent of novel diagnostic techniques that accurately identify this disorder. Here, we report data from a survey on the prevalence and characteristics of patients diagnosed with HHA in Korea from 2007 to 2011.
Methods: Information on patients diagnosed with HHA in Korea and their clinical and laboratory results were collected using a survey questionnaire. Globin gene and red blood cell (RBC) enzyme analyses were performed. In addition, we analyzed data collected by pedia-tricians.
Results: In total, 195 cases of HHA were identified. Etiologies identified for HHA were RBC mem-branopathies, hemoglobinopathies, and RBC enzymopathies, which accounted for 127 (64%), 39 (19.9%), and 26 (13.3%) cases, respectively. Of the 39 patients with hemoglobi-nopathies, 26 were confirmed by globin gene analysis, including 20 patients with ?-tha-lassemia minor, 5 patients with ?-thalassemia minor, and 1 patient with unstable hemo-globin disease.
Conclusion: The number of patients diagnosed with hemoglobinopathies and RBC enzymopathies has increased considerably since the previous survey on HHA in Korea, dated from 1997 to 2006. This is likely the result of improved diagnostic techniques. Nevertheless, there is still a need for more sensitive diagnostic tests utilizing flow cytometry and for better standardization of test results to improve the accuracy of diagnosis of RBC mem-branopathies in Korea. Additionally, more accurate assays for the identification of RBC enzymopathies are warranted.
|
|
|
KEYWORD
|
|
|
Congenital hemolytic anemia, Hereditary spherocytosis, Thalassemia, Congenital nonspherocytic anemia
|
|
|
FullTexts / Linksout information
|
|
  
|
|
|
Listed journal information
|
|
  
|
|