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Article

[Inherited bone marrow failure syndromes].

[Rinsho ketsueki] The Japanese journal of clinical hematology - 1 Jan 2026

Hama Asahito

Abstract excerpt

Diamond-Blackfan anemia (DBA) is a classic example of an inherited bone marrow failure syndrome in the category of erythrocyte diseases. DBA mainly occurs due to ribosome dysfunction. In the peripheral blood, reticulocytes are reduced, and in the bone marrow, only erythroid cells are markedly reduced. DBA primarily develops in infants and is often caused by heterozygous allele mutations in ribosomal protein...

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Anemia, Diamond-Blackfan
Bone Marrow Diseases
Bone Marrow Failure Disorders
Erythropoiesis
Genetic Therapy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hematopoietic Stem Cell Transplantation

Ribosomal Proteins

Source

Identifiers

PMID: 42419987
DOI: 10.11406/rinketsu.67.549

Genes

RPS19

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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