Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea.
10.5045/kjh.2012.47.2.131
- Author:
Soon Ki KIM
1
;
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
Author Information
1. Department of Pediatrics, College of Medicine, Inha University, Korea. pedkim@inha.ac.kr
- Publication Type:Original Article
- Keywords:
Diamond Blackfan anemia;
Anemia;
Congenital defects
- MeSH:
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
- From:Korean Journal of Hematology
2012;47(2):131-135
- CountryRepublic of Korea
- Language:English
-
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.
