71 174

Cited 0 times in

Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea.

 Soon-Ki Kim  ;  Hyo-Seop Ahn  ;  Hee-Jo Back  ;  Bin Cho  ;  Eun-Jin Choi  ;  Nak-Gyun Chung  ;  Pyoung-Han Hwang  ;  Dae-Chul Jeoung  ;  Hyung-Jin Kang  ;  Hyery Kim  ;  Kyung-Nam Ko  ;  Hong-Hoe Koo  ;  Hoon Kook  ;  Kwang-Chul Lee  ;  Ho-Joon Lim  ;  Young-Tak Lim  ;  Chuhl-Joo Lyu Jun-Eun Park  ;  Kyung-Duk Park  ;  Sang-Kyu Park  ;  Kyung-Ha Ryu  ;  Jong-Jin Seo  ;  Hee-Young Shin  ;  Ki-Woong Sung  ;  Eun Sun Yoo 
 Korean Journal of Hematology, Vol.47(2) : 131-135, 2012 
Journal Title
 Korean Journal of Hematology 
Issue Date
Anemia ; Congenital defects ; Diamond Blackfan anemia
BACKGROUND: Diamond Blackfan anemia (DBA), characterized by impaired red cell production, is a rare condition that is usually symptomatic in early infancy. The purpose of this study was to assess nationwide experiences of DBA encountered over a period of 20 years. METHODS: The medical records of 56 patients diagnosed with DBA were retrospectively reviewed from November 1984 to July 2010. Fifteen institutions, including 13 university hospitals, participated in this study. RESULTS: The male-to-female ratio of patients with DBA was 1.67:1. The median age of diagnosis was 4 months, and 74.1% were diagnosed before 1 year of age. From 2000 to 2009, annual incidence was 6.6 cases per million. Excluding growth retardation, 38.2% showed congenital defects: thumb deformities, ptosis, coarctation of aorta, ventricular septal defect, strabismus, etc. The mean hemoglobin concentration was 5.1+/-1.9 g/dL, mean corpuscular volume was 93.4+/-11.6 fL, and mean number of reticulocytes was 19,700/mm3. The mean cellularity of bone marrow was 75%, with myeloid:erythroid ratio of 20.4:1. After remission, 48.9% of patients did not need further steroids. Five patients with DBA who received hematopoietic transplantation have survived. Cancer developed in 2 cases (3.6%). CONCLUSION: The incidence of DBA is similar to data already published, but our study had a male predilection. Although all patients responded to initial treatment with steroids, about half needed further steroids after remission. It is necessary to collect further data, including information regarding management pathways, from nationwide DBA registries, along with data on molecular analyses.
Files in This Item:
T201203432.pdf Download
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Lyu, Chuhl Joo(유철주) ORCID logo https://orcid.org/0000-0001-7124-7818
사서에게 알리기


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.