伴有 突变的钻石黑范贫血：一例报告及已发表文献综述
Diamond-Blackfan anemia with mutation in : A case report and an overview of published pieces of literature.
作者信息
Jahan Dilshad, Al Hasan Md Maruf, Haque Mainul
机构信息
Department of Hematology, Apollo Hospitals, Dhaka, Bangladesh.
Unit of Pharmacology, Faculty of Medicine and Defence Health, Universiti Pertahanan Nasional Malaysia (National Defence University of Malaysia), Kuala Lumpur, Malaysia.
出版信息
J Pharm Bioallied Sci. 2020 Apr-Jun;12(2):163-170. doi: 10.4103/jpbs.JPBS_234_19. Epub 2020 Apr 10.
INTRODUCTION
Diamond-Blackfan anemia (DBA), one of a rare group of inherited bone marrow failure syndromes, is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. It can be caused by mutations in the gene (25% of the cases).
METHODS
This case report describes a 10-month-old boy who presented with 2 months' history of gradually increasing weakness and pallor.
RESULTS
The patient was diagnosed as a case of DBA based on peripheral blood finding, bone marrow aspiration with trephine biopsy reports, and genetic mutation analysis of the gene. His father refused hematopoietic stem cell transplantation for financial constraints. Patient received prednisolone therapy with oral folic acid and iron supplements.
CONCLUSION
Hemoglobin raised from 6.7 to 9.8g/dL after 1 month of therapeutic intervention.
引言
钻石黑范贫血（DBA）是一组罕见的遗传性骨髓衰竭综合征之一，其特征为红细胞生成障碍、先天性异常以及癌症易感性。它可能由该基因的突变引起（25%的病例）。
方法
本病例报告描述了一名10个月大的男孩，他有2个月逐渐加重的虚弱和苍白病史。
结果
根据外周血检查结果、骨髓穿刺及活检报告以及该基因的基因突变分析，该患者被诊断为DBA病例。他的父亲因经济限制拒绝了造血干细胞移植。患者接受了泼尼松龙治疗，并口服叶酸和铁补充剂。
结论
治疗干预1个月后，血红蛋白从6.7g/dL升至9.8g/dL。
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