Inherited Bone Marrow Failure Syndromes in Children: Herditary Bone Marrow Failure Syndromes

Mehmet Emin Ertunç; Ahmet Genar Çelik; Akif  Tahiroğlu; Ekrem Ünal

doi:10.4274/jpea.2023.218

Inherited Bone Marrow Failure Syndromes in Children

Herditary Bone Marrow Failure Syndromes

Abstract views: 284

Authors

Mehmet Emin Ertunç Erciyes University Faculty of Medicine, Kayseri, Turkey https://orcid.org/0009-0000-2779-3758
Ahmet Genar Çelik Erciyes University Faculty of Medicine, Kayseri, Turkey https://orcid.org/0009-0000-5897-077X
Akif Tahiroğlu İstanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, İstanbul, Turkey https://orcid.org/0000-0003-2540-7539
Ekrem Ünal Erciyes University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology Oncology & Hematopoietic Stem Cell Transplant Unit, Kayseri, Turkey https://orcid.org/0000-0002-2691-4826

DOI:

https://doi.org/10.4274/jpea.2023.218

Keywords:

Inherited bone marrow failure syndrome, Children, Pancytopenia, Fanconi anemia, Dyskeratosis congenita

Abstract

Inherited bone marrow failure syndromes are disorders of hematopoiesis that are mostly encountered in childhood. Taking the basis
from genetics, they are characterized by pancytopenia, increased risk of developing myelodysplastic syndrome and malignancy.
Extrahematopoietic presentations are observed often in addition to symptoms related to defective hematopoiesis (also known as
bone marrow failure). The biology, clinical features, and management of the main syndromes such as Fanconi anemia, dyskeratosis
congenita, Shwachman-Diamond syndrome, congenital amegakaryocytic thrombocytopenia, Diamond-Blackfan anemia, and
severe congenital neutropenia are briefly summarized in this review.

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Published

2023-03-31

How to Cite

Ertunç, M. E., Çelik, A. G., Tahiroğlu, A. ., & Ünal, E. (2023). Inherited Bone Marrow Failure Syndromes in Children: Herditary Bone Marrow Failure Syndromes . The Journal of Pediatric Academy, 4(1), 1–5. https://doi.org/10.4274/jpea.2023.218