Neonatal Diamond-Blackfan anemia: a case report.
10.7499/j.issn.1008-8830.2504056
- Author:
Hong-Ling WEI
1
;
Tong-Yan HAN
1
;
Xiao-Hui ZHU
;
Shuo GUAN
Author Information
1. Department of Pediatrics, Peking University Third Hospital, Beijing 100191, China.
- Publication Type:English Abstract
- Keywords:
Anemia;
Diamond-Blackfan;
Neonate;
RPS19 gene
- MeSH:
Humans;
Anemia, Diamond-Blackfan/diagnosis*;
Male;
Infant, Newborn;
Ribosomal Proteins/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(10):1276-1280
- CountryChina
- Language:Chinese
-
Abstract:
A male full-term neonate was admitted at 30 minutes of life with pallor and 10 minutes of respiratory distress. Physical examination revealed pallor, increased intercanthal distance, low-set ears, a palpable cystic mass in the neck, hepatomegaly, a pedunculated, globular appendage attached to the right thumb, and an ectopic toenail on the right second toe. Laboratory testing showed severe anemia with hemoglobin of 44 g/L. Bone marrow examination demonstrated hypoplasia. Whole-exome sequencing identified a heterozygous pathogenic variant in the RPS19 gene, c.175T>C (p.Ser59Pro), establishing the diagnosis of Diamond-Blackfan anemia. On follow-up to 2 years and 2 months of age, both hemoglobin and reticulocyte counts remained within normal ranges. This case illustrates early-onset severe anemia in a neonate with genetically confirmed Diamond-Blackfan anemia and expands the phenotypic spectrum, informing clinical recognition and management.
