Diamond–Blackfan贫血
大细胞贫血
骨髓衰竭
医学
贫血
表型
疾病
基因型-表型区分
儿科
遗传学
病理
内科学
生物
基因
造血
干细胞
核糖体
核糖核酸
作者
Lydia Kossiva,Aikaterini Markande,Fotini Vagianou,Polyxeni Delaporta,Antonis Kattamis
出处
期刊:Journal of Pediatric Hematology Oncology
[Ovid Technologies (Wolters Kluwer)]
日期:2020-02-28
卷期号:43 (4): e539-e542
标识
DOI:10.1097/mph.0000000000001767
摘要
Background: Diamond-Blackfan anemia is a rare inherited bone marrow failure disease. Typical findings include hypoplastic macrocytic anemia, congenital anomalies, and a predisposition to cancer. The molecular basis of the disease is heterozygous mutations of ribosomal proteins without a strict correlation between genotype and phenotype. Observation: We present 2 cases of Diamond-Blackfan anemia diagnosed during infancy with interesting clinical, molecular, and family characteristics. Conclusions: A thorough evaluation of all family members is imperative to identify possible ‘silent carriers’ who are those with no physical stigmata and minor or absent hematologic manifestations. New mutations could add in the map of the disease.
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