Late‐onset familial Diamond–Blackfan anemia with neutropenia caused by <scp><i>RPL35A</i></scp> variant

Tamefusa, Kosuke; Muraoka, Michiko; Washio, Kana; Wakamatsu, Mitsuru; Shimada, Akira

doi:10.1111/ped.15275

Cited by 2 publications

(1 citation statement)

References 5 publications

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“…There is no strong relationship with any specific mutation gene for the specific syndrome. However, neutropenia is more frequently associated with RPL35a [ 30 – 32 ], cleft palate and abnormal thumbs with RPL5 and RPL11 [ 33 ]. Specifically, patients with RPL5 (83% on average) or RPL11 (73% on average) mutations had higher chance with one or more congenital malformations, compared with mutations in the RPS19 gene (34% on average) [ 4 , 34 ].…”

Section: Introductionmentioning

confidence: 99%

Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia

Liu,

Karlsson

2023

Leukemia

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AbstactDiamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure disorder characterized by erythroid hypoplasia. It primarily affects infants and is often caused by heterozygous allelic variations in ribosomal protein (RP) genes. Recent studies also indicated that non-RP genes like GATA1, TSR2, are associated with DBA. P53 activation, translational dysfunction, inflammation, imbalanced globin/heme synthesis, and autophagy dysregulation were shown to contribute to disrupted erythropoiesis and impaired red blood cell production. The main therapeutic option for DBA patients is corticosteroids. However, half of these patients become non-responsive to corticosteroid therapy over prolonged treatment and have to be given blood transfusions. Hematopoietic stem cell transplantation is currently the sole curative option, however, the treatment is limited by the availability of suitable donors and the potential for serious immunological complications. Recent advances in gene therapy using lentiviral vectors have shown promise in treating RPS19-deficient DBA by promoting normal hematopoiesis. With deepening insights into the molecular framework of DBA, emerging therapies like gene therapy hold promise for providing curative solutions and advancing comprehension of the underlying disease mechanisms.

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Section: Introductionmentioning

confidence: 99%

Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia

Liu,

Karlsson

2023

Leukemia

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A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult—A Case Report and Review of the Literature

Dorenkamp,

Porret,

Diepold

et al. 2023

Medicina

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Diamond–Blackfan anemia (DBA) is a congenital bone marrow failure syndrome associated with malformations. DBA is related to defective ribosome biogenesis, which impairs erythropoiesis, causing hyporegenerative macrocytic anemia. The disease has an autosomal dominant inheritance and is commonly diagnosed in the first year of life, requiring continuous treatment. We present the case of a young woman who, at the age of 21, developed severe symptomatic anemia. Although, due to malformations, a congenital syndrome had been suspected since birth, a confirmation diagnosis was not made until the patient was referred to our center for an evaluation of her anemia. In her neonatal medical history, she presented with anemia that required red blood cell transfusions, but afterwards remained with a stable, mild, asymptomatic anemia throughout her childhood and adolescence. Her family history was otherwise unremarkable. To explain the symptomatic anemia, vitamin deficiencies, autoimmune diseases, bleeding causes, and myeloid and lymphoid neoplasms were investigated and ruled out. A molecular investigation showed the RPL5 gene variant c.392dup, p.(Asn131Lysfs*6), confirming the diagnosis of DBA. All family members have normal blood values and none harbored the mutation. Here, we will discuss the unusual evolution of this case and revisit the literature.

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Late‐onset familial Diamond–Blackfan anemia with neutropenia caused by RPL35A variant

Cited by 2 publications

References 5 publications

Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia

Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia

A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult—A Case Report and Review of the Literature

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