Adult‐onset Diamond‐Blackfan anemia with a novel mutation in the exon 5 of <scp>RPL</scp>11: too late and too rare

Ballester, Elena Flores; Gil-Fernández, Juan José; Blanco, María del Pilar; Mesa, José Miguel Laffita; García, Juan de Dios; Tamayo, Ana T; Burgaleta, Carmen

doi:10.1002/ccr3.240

Cited by 16 publications

(9 citation statements)

References 8 publications

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“…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. 6,10–12 …”

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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“…There have been few reported cases of presentations of DBA in adulthood; these are considered as “non-classical” presentations [ 1 , 8 , 14 ]. Two reports involving such non-classical presentations demonstrate patients with RPL11 variants [ 8 , 15 ].…”

Section: Discussionmentioning

confidence: 99%

Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report

et al. 2021

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Patient: Female, 35-year-old Final Diagnosis: Diamond-Blackfan anemia Symptoms: Anemia • fatigue Medication: — Clinical Procedure: — Specialty: Hematology Objective: Rare disease Background: Diamond-Blackfan anemia (DBA) is a rare genetic disorder associated with macrocytic anemia and reticulocytopenia, with patients usually transfusion-dependent in the first years of life. The disease inheritance is predominantly autosomal dominant, but varying presentations have been described owing to incomplete penetrance and widely variable expression. De novo mutations have been reported in about 55% of cases. This pediatric disease is commonly characterized by malformation of the extremities as well as craniofacial abnormalities and cardiac and urogenital defects. There have been reported cases of adult-onset DBA diagnosed through genetic testing. Although these adult-onset cases can vary in presentation, characteristic malformations are present in nearly half of patients. Treatment protocols include corticosteroids, blood transfusions, iron chelation, and bone marrow transplant. New investigational therapies are being evaluated. Roughly one-fourth of patients achieve remission and are able to maintain a stable hemoglobin level without intervention. Case Report: A 35-year-old woman with spina bifida and resultant paraplegia presented with new-onset transfusion-dependent hypoplastic anemia. Following an extensive evaluation, a RPL11 gene variant was found, confirming the diagnosis of DBA. Conclusions: DBA should be considered in young adult patients with severe, transfusion-dependent, aregenerative anemia without definitive cause. Evaluation for nonclassical DBA should be considered and excluded.

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“…Other case reports highlighting the efficacy of danazol have been published. Flores Ballester et al described a patient with a congenital hypoplastic left thumb who developed a hypoproliferative anaemia in his 30s [35]. He was diagnosed with adult-onset DBA after the identification of a pathogenic mutation in RPL11 .…”

Section: Discussionmentioning

confidence: 99%

Danazol: An Effective and Underutilised Treatment Option in Diamond-Blackfan Anaemia

Chai

Quijano

Chiruka

2019

Case Reports in Hematology

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Diamond-Blackfan anaemia (DBA) is a rare congenital red cell aplasia that presents in infancy. The exact molecular mechanism of ineffective erythropoiesis and red cell aplasia remains unclear, rendering targeted therapy elusive. The mainstay treatment of DBA is with regular blood transfusion and long-term corticosteroids, both of which have long-term side effects. We report a case of DBA successfully treated with danazol, a synthetic androgen, and suggest that danazol be considered as a viable option in patients who become refractory to steroids and are considered high risk or unfit for allogeneic stem cell transplantation.

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

Cited by 16 publications

References 8 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

Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report

Danazol: An Effective and Underutilised Treatment Option in Diamond-Blackfan Anaemia

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