Turkish Archives of Pediatrics
Original Article

Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond–Blackfan Anemia May Be Overlooked


Department of Pediatrics, Hacettepe University, Ankara, Türkiye


Department of Pediatric Hematology, Hacettepe University, Ankara, Türkiye


Hacettepe University, Research Center for Fanconi Anemia and Other IBMFS, Ankara, Türkiye


Department of Genetics, Hacettepe University, Ankara, Türkiye

Turk Arch Pediatr 2024; 59: 364-269
DOI: 10.5152/TurkArchPediatr.2024.23193
Read: 82 Downloads: 47 Published: 17 June 2024

Objective: Diamond–Blackfan anemia (DBA) is a rare and inherited form of erythroid aplasia, characterized by severe macrocytic anemia, congenital malformations, and predisposition to cancer. The purpose of this study is to determine the congenital abnormalities and dysmorphological features of DBA patients in a cross-sectional manner.

Materials and Methods: The study group included patients who had diagnosis of DBA between 1983 and 2017. Dysmorphological examinations of the patients were performed by an experienced dysmorphologist and also echocardiography and abdominal ultrasonography were performed in order to figure out cardiac and urogenital abnormalities.

Results: A total of 45 patients were examined in this study. Dysmorphological examination, echocardiography, and abdominal ultrasonography revealed the rate of congenital abnormalities as high as 88.7%. In consideration of the congenital abnormalities, the most common findings were craniofacial, followed by skeletal abnormalities.

Conclusion: The rate of anomalies was found higher in our series of patients than that have been previously reported, most probably due to the evaluations being performed by a dysmorphologist in our cohort and not only depending on patient records or hematologists’ physical examination.

Cite this article as: Soltanova G, Avcu Oral N, Gümrük F, Şimşek Kiper PÖ, Ünal Ş. Associated congenital abnormalities and physical phenotype in patients with diamond-blackfan anemia may be overlooked. Turk Arch Pediatr. 2024;59(4):364-369.

EISSN 2757-6256