Clinical presentation and biological confirmation of 7 FA patients identified are detailed, and strategies for a comprehensive and precise diagnosis of FA in patients presenting with BMF are discussed. [haematologica.org]

Around 25% of patients present few or no physical/developmental abnormalities. [atlasgeneticsoncology.org]

Malformations were present in 96% of cases and consisted mainly of skeletal malformations. Abnormal skin pigmentations were present in 92% of cases. The ages of patients ranged from 1 year to 30 years. The mean age at diagnosis was 9 years. [nature.com]

Hemoglobinopathies Discipline Blood diseases Pharmacological treatments Tumours Origin Inist-CNRS Database PASCAL INIST identifier 22504207 Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’ [pascal-francis.inist.fr]

If breaks are increased, a diagnosis of FA is made and appropriate treatment/follow-up offered. [haematologica.org]

First line treatment of aplastic anemia with thymoglobuline in Europe and Asia: Outcome of 955 patients treated 2001-2012. Bacigalupo A et al. Am J Hematol. 2018 May. [marih.fr]

Treatment Androgens and steroids to improve hematopoietic function. Bone marrow transplantation to palliate the BMF and in the case of AML. [atlasgeneticsoncology.org]

Prognosis The clinical presentation of the FA is extremely heterogenous. It is generally admitted that BMF appears at around 7 years. [atlasgeneticsoncology.org]

This included BMF patients (i) without any evidence of an associated underlying etiology, (ii) with only an isolated non-specific positive sign in history or physical examination (i.e. isolated short stature, or café-au-lait spots, or history of consanguinity [haematologica.org]

Current concepts in the pathophysiology and treatment of aplastic anemia. Blood. 2006; 108:2509-19. Google Scholar Hematology of Infancy and Childhood. Saunders: Philadelphia; 2003. Google Scholar Dokal I, Vulliamy T. [haematologica.org]