The Spectrum of Non-Classical Diamond-Blackfan Anemia: A Case of Late Beginning Transfusion Dependency Associated to a New RPL5 Mutation

Farruggia, Piero; Quarello, Paola; Garelli, Emanuela; Paolicchi, Olivia; Ruffo, Giovanni Battista; Cuccia, Liana; Cannella, Sonia; Bruno, Giuseppa; D’Angelo, Paolo

doi:10.4081/pr.2012.e25

Cited by 4 publications

(4 citation statements)

References 10 publications

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“…A patient with an RPL5 mutation was anemic from infancy but became transfusion-dependent at age 12 years. 8 Adult onset of anemia was described in a patient with congenital thumb abnormalities and a genetic diagnosis of DBA. 9 In reported series of patients with DBA, a few patients were diagnosed older than age 12 months or with a mild anemia that required no therapy.…”

Section: Discussionmentioning

confidence: 99%

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis

Steinberg‐Shemer

Keel

Dgany

et al. 2016

Journal of Pediatric Hematology/Oncology

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Summary Diamond Blackfan anemia (DBA) is an inherited syndrome usually presenting with severe macrocytic anemia in infancy, paucity of erythroid precursors in the bone marrow, and congenital anomalies. We describe a child with mild, transfusion independent normocytic anemia whose diagnosis of DBA was established by identification of a novel de novo mutation disrupting normal splicing of the ribosomal protein RPL5. The diagnosis of DBA was confirmed by elevated erythrocyte adenosine deaminase levels and an abnormal ribosomal RNA profile. This case demonstrates the usefulness of genomic analysis in establishing the diagnosis of DBA in patients with a nonclassical presentation of the disease.

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Section: Discussionmentioning

confidence: 99%

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis

Steinberg‐Shemer

Keel

Dgany

et al. 2016

Journal of Pediatric Hematology/Oncology

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“…The majority of DBA cases will present with severe anemia during the first year of life and they will require continuous treatment [15]. There are also many patients who are asymptomatic carriers, although cases of late-onset anemia during adulthood have been frequently reported [16][17][18]. Cases such as the one reported here, diagnosed in the first weeks of life and following a mild course, to then worsen again in adulthood, seem to be rare.…”

Section: Discussionmentioning

confidence: 77%

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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“…According to the diagnostic criteria previously established at an International Consensus Conference , our patient should be classified as sporadic nonclassical form of DBA (insufficient diagnosis criteria and gene mutation described in “classical” DBA) .…”

Section: Case Reportmentioning

confidence: 99%

Adult‐onset Diamond‐Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare

Ballester

Gil-Fernández

Blanco

et al. 2015

Clinical Case Reports

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Key Clinical MessageDiamond-Blackfan anemia (DBA) is a congenital erythroid aplasia usually diagnosed in the early infancy and associated with mutations or large deletions in 11 ribosomal protein (RP) genes. Adult patients with severe, transfusion dependence, aregenerative anemia might have a genetic-in-origin disease with an atypical presentation. Late onset nonclassical DBA should be ruled out and mutations of RP genes studied.

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The Spectrum of Non-Classical Diamond-Blackfan Anemia: A Case of Late Beginning Transfusion Dependency Associated to a New RPL5 Mutation

Cited by 4 publications

References 10 publications

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis

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

Adult‐onset Diamond‐Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare

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