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


CONCLUSIONS
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.
Department of Pediatrics, College of Medicine, Inha University, Korea.
Soon-Ki
SK
Kim
Hyo-Seop
HS
Ahn
Hee-Jo
HJ
Back
Bin
B
Cho
Eun-Jin
EJ
Choi
Nak-Gyun
NG
Chung
Pyoung-Han
PH
Hwang
Dae-Chul
DC
Jeoung
Hyung-Jin
HJ
Kang
Hyery
H
Kim
Kyung-Nam
KN
Ko
Hong-Hoe
HH
Koo
Hoon
H
Kook
Kwang-Chul
KC
Lee
Ho-Joon
HJ
Lim
Young-Tak
YT
Lim
Chuhl-Joo
CJ
Lyu
Jun-Eun
JE
Park
Kyung-Duk
KD
Park
Sang-Kyu
SK
Park
Kyung-Ha
KH
Ryu
Jong-Jin
JJ
Seo
Hee-Young
HY
Shin
Ki-Woong
KW
Sung
Eun Sun
ES
Yoo