Un caso di anemia macrocitica non megaloblastica: la sindrome di Blackfan Diamond-Reference-Cited by-同舟云学术

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Un caso di anemia macrocitica non megaloblastica: la sindrome di Blackfan Diamond

Published:2024-05-24 Issue:5 Volume:27 Page:92-93
ISSN:2704-8268
Container-title:Medico e Bambino Pagine elettroniche
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Author:

Aquisti Giulia¹,Basso Maria Eleonora²,Rabbone Ivana¹

Affiliation:

1. Scuola di Specializzazione in Pediatria, UNIUPO

2. SS Oncoematologia Pediatrica, UNIUPO

Abstract

The case of a two-year-old child with severe isolated anaemia (6 g%) and marked macrocytosis, ultimately diagnosed as Blackfan-Diamond syndrome, is described. The genetic, clinical and prognostic aspects of the disease are briefly discussed.

Publisher

Medico e Bambino

Reference4 articles.

1. An update on the pathogenesis and diagnosis of Diamond–Blackfan anemia

2. Diamond Blackfan Anemia: Genetics, Pathogenesis, Diagnosis and Treatment;Engidaye G;EJIFCC,2019

3. Sieff C. Diamond-Blackfan Anemia. 2009 Jun 25 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneRe-views® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.

4. Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience

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