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KMID : 0366220120470020131
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Korean Journal of Hematology
2012 Volume.47 No. 2 p.131 ~ p.135
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Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea
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Kim Soon-Ki
Ahn Hyo-Seop
Back Hee-Jo
Cho Bin
Choi Eun-Jin
Chung Nack-Gyun
Hwang Pyoung-Han
Jeoung Dae-Chul
Kang Hyung-Jin
Kim Hye-Ri
Ko Kyung-Nam
Koo Hong-Hoe
Kook Hoon
Lee Kwang-Chul
Lim Ho-Joon
Lim Young-Tak
Lyu Chuhl-Joo
Park Jun-Eun
Park Kyung-Duk
Park Sang-Kyu
Ryu Kyung-Ha
Seo Jong-Jin
Shin Hee-Young
Sung Ki-Woong
Yoo Eun-Sun
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Abstract
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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.
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KEYWORD
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Diamond Blackfan anemia, Anemia, Congenital defects
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