Korean J Hematol.  2012 Jun;47(2):131-135. 10.5045/kjh.2012.47.2.131.

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

• Kim SK
• Ahn HS
• Back HJ
• Cho B
• Choi EJ
• Chung NG
• Hwang PH
• Jeoung DC
• Kang HJ
• 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

• KMID: 2083607
• DOI: http://doi.org/10.5045/kjh.2012.47.2.131

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/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.

Keyword

Diamond Blackfan anemia; Anemia; Congenital defects

MeSH Terms

Anemia
Anemia, Diamond-Blackfan
Aortic Coarctation
Bone Marrow
Congenital Abnormalities
Diamond
Erythrocyte Indices
Heart Septal Defects, Ventricular
Hemoglobins
Hospitals, University
Humans
Incidence
Korea
Male
Medical Records
Registries
Reticulocytes
Retrospective Studies
Steroids
Strabismus
Thumb
Transplants
Diamond
Hemoglobins
Steroids

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