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, young 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 & 5 others Kyung Ha Ryu, Jong Jin Seo, Hee Young Shin, Ki Woong Sung, Eun Sun Yoo

Research output: Contribution to journalArticle

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Abstract

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/mm 3.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.

Original languageEnglish
Pages (from-to)92-104
Number of pages13
JournalKorean Journal of Hematology
Volume47
Issue number2
DOIs
Publication statusPublished - 2012 Jun 1

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Diamond-Blackfan Anemia
Korea
Steroids
Reticulocyte Count
Information Management
Aortic Coarctation
Erythrocyte Indices
Strabismus
Ventricular Heart Septal Defects
Incidence
Medical Records
Registries
Hemoglobins
Transplantation
Bone Marrow

Keywords

  • Anemia
  • Congenital defects
  • Diamond blackfan anemia

ASJC Scopus subject areas

  • Hematology

Cite this

Kim, S. K., Ahn, H. S., Back, H. J., Cho, B., Choi, E. J., Chung, N. G., ... Yoo, E. S. (2012). Clinical and hematologic manifestations in patients with diamond blackfan anemia in Korea. Korean Journal of Hematology, 47(2), 92-104. https://doi.org/10.5045/kjh.2012.47.2.92

Clinical and hematologic manifestations in patients with diamond blackfan anemia in Korea. / Kim, Soon Ki; Ahn, Hyo Seop; Back, Hee Jo; Cho, Bin; Choi, Eun Jin; Chung, Nak Gyun; Hwang, Pyoung Han; Jeoung, Dae Chul; Kang, young Jin; Kim, Hyery; 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.

In: Korean Journal of Hematology, Vol. 47, No. 2, 01.06.2012, p. 92-104.

Research output: Contribution to journalArticle

Kim, SK, Ahn, HS, Back, HJ, Cho, B, Choi, EJ, Chung, NG, Hwang, PH, Jeoung, DC, Kang, YJ, Kim, H, Ko, KN, Koo, HH, Kook, H, Lee, KC, Lim, HJ, Lim, YT, Lyu, CJ, Park, JE, Park, KD, Park, SK, Ryu, KH, Seo, JJ, Shin, HY, Sung, KW & Yoo, ES 2012, 'Clinical and hematologic manifestations in patients with diamond blackfan anemia in Korea', Korean Journal of Hematology, vol. 47, no. 2, pp. 92-104. https://doi.org/10.5045/kjh.2012.47.2.92
Kim, Soon Ki ; Ahn, Hyo Seop ; Back, Hee Jo ; Cho, Bin ; Choi, Eun Jin ; Chung, Nak Gyun ; Hwang, Pyoung Han ; Jeoung, Dae Chul ; Kang, young Jin ; Kim, Hyery ; 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. / Clinical and hematologic manifestations in patients with diamond blackfan anemia in Korea. In: Korean Journal of Hematology. 2012 ; Vol. 47, No. 2. pp. 92-104.
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abstract = "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/mm 3.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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AU - Kim, Soon Ki

AU - Ahn, Hyo Seop

AU - Back, Hee Jo

AU - Cho, Bin

AU - Choi, Eun Jin

AU - Chung, Nak Gyun

AU - Hwang, Pyoung Han

AU - Jeoung, Dae Chul

AU - Kang, young Jin

AU - Kim, Hyery

AU - Ko, Kyung Nam

AU - Koo, Hong Hoe

AU - Kook, Hoon

AU - Lee, Kwang Chul

AU - Lim, Ho Joon

AU - Lim, Young Tak

AU - Lyu, Chuhl Joo

AU - Park, Jun Eun

AU - Park, Kyung Duk

AU - Park, Sang Kyu

AU - Ryu, Kyung Ha

AU - Seo, Jong Jin

AU - Shin, Hee Young

AU - Sung, Ki Woong

AU - Yoo, Eun Sun

PY - 2012/6/1

Y1 - 2012/6/1

N2 - 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/mm 3.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.

AB - 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/mm 3.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.

KW - Anemia

KW - Congenital defects

KW - Diamond blackfan anemia

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