Krijanovski O I, Sieff C A
Division of Pediatric Hematology and Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
Hematol Oncol Clin North Am. 1997 Dec;11(6):1061-77. doi: 10.1016/s0889-8588(05)70483-4.
Diamond-Blackfan anemia (DBA) is a rare, congenital, hypoplastic anemia that usually presents in early infancy. Congenital anomalies, particularly of the head and upper limbs, are present in about a quarter of reported patients. The disease is characterized by a moderate-to-severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. The pathogenesis is unknown. The majority of patients respond to prednisone, and often erythropoiesis can be maintained with low doses of the drug. Both remissions and increased resistance to steroid treatment can occur. Nonresponders usually are transfusion dependent, although responses to high dose steroid, androgen, and interleukin-3 have been observed. Bone marrow transplantation can be curative.
钻石黑范贫血（DBA）是一种罕见的先天性再生障碍性贫血，通常在婴儿早期出现。约四分之一的报告患者存在先天性异常，尤其是头部和上肢的异常。该病的特征为中度至重度大细胞贫血、偶尔出现中性粒细胞减少或血小板增多、骨髓细胞正常但红系造血细胞发育不全，以及患白血病的风险增加。其发病机制尚不清楚。大多数患者对泼尼松有反应，且通常用低剂量药物就能维持红细胞生成。缓解和对类固醇治疗耐药的情况都可能发生。无反应者通常依赖输血，不过也观察到对高剂量类固醇、雄激素和白细胞介素-3有反应的情况。骨髓移植可治愈该病。
