Lydia Kossiva, Aikaterini Markande, Fotini Vagianou, Polyxeni Delaporta, Antonis Kattamis
Journal of pediatric hematology/oncology 2021 May 01Diamond-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. We present 2 cases of Diamond-Blackfan anemia diagnosed during infancy with interesting clinical, molecular, and family characteristics. 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. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.
Lydia Kossiva, Aikaterini Markande, Fotini Vagianou, Polyxeni Delaporta, Antonis Kattamis. Diamond-Blackfan Anemia: 2 Cases With a Twist. Journal of pediatric hematology/oncology. 2021 May 01;43(4):e539-e542
PMID: 32118814
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