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17 January 2022 : Case report  USA

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

Challenging differential diagnosis, Rare disease, Congenital defects / diseases, Rare coexistence of disease or pathology

Evida Mars-Holt12AEF, Alex Murdoch3EF, Amanda Frugoli12ABEF*, Brian Utz3E, Lynn Kong4CEF

DOI: 10.12659/AJCR.932649

Am J Case Rep 2022; 23:e932649

Abstract

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.

Keywords: Anemia, Anemia, Diamond-Blackfan, Blood Transfusion

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923