Diamond–Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature

Abstract

A BSTRACT Introduction: Diamond–Blackfan anemia (DBA), one of a rare group of inherited bone marrow failure syndromes, is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. It can be caused by mutations in the RPS19 gene (25% of the cases). Methods: This case report describes a 10-month-old boy who presented with 2 months’ history of gradually increasing weakness and pallor. Results: The patient was diagnosed as a case of DBA based on peripheral blood finding, bone marrow aspiration with trephine biopsy reports, and genetic mutation analysis of the RPS19 gene. His father refused hematopoietic stem cell transplantation for financial constraints. Patient received prednisolone therapy with oral folic acid and iron supplements. Conclusion: Hemoglobin raised from 6.7 to 9.8g/dL after 1 month of therapeutic intervention.

Towards a Cure for Diamond–Blackfan Anemia: Views on Gene Therapy

“…In addition to the classic hematological profile of DBA patients, a significant number of non-classic cases have been identified, requiring alternative diagnostic approaches beyond traditional methods, such as complete blood count, reticulocyte count, and bone marrow aspiration and biopsy. Diagnosis typically involves assessing fetal hemoglobin (HbF) levels and erythrocyte adenosine deaminase (eADA) activity, as these are considered biomarkers of DBA [ 7 , 10 ]. When clinical suspicion arises, mutation analysis for known DBA genes is conducted to confirm the diagnosis [ 7 ].…”

Probable digenic inheritance of Diamond–Blackfan anemia

“…Diamond–Blackfan Anemia (DBA, OMIM 105650) is characterized by the failure of red blood cell production as well as congenital anomalies, and cancer predisposition with variable expressivity and reduced penetrance (Jahan et al, 2020). In most cases, DBA is characterized as an autosomal dominant ribosomopathy caused by loss‐of‐function heterozygous variants in one of 19 ribosomal protein (RP) genes, that encode the following proteins of either the small ( RPS19 , RPS26 , RPS10 , RPS24 , RPS17 , RPS7 , RPS27 , RPS29 , RPS28 , RPS15A ) or the large ( RPL5 , RPL11 , RPL35A , RPL26 , RPL15 , RPL31 , RPL27 , RPL35 , RPL18 ) ribosomal subunits (Ulirsch et al, 2018).…”