L Da Costa, TN Willig, J Fixler… - Current opinion in …, 2001 - journals.lww.com
Abstract Diamond-Blackfan Anemia (DBA) is a rare, congenital hypoplastic anemia often diagnosed early in infancy. A moderate to severe aregenerative anemia is found in …
M Byrska-Bishop, D VanDorn… - The Journal of …, 2015 - Am Soc Clin Investig
Germline GATA1 mutations that result in the production of an amino-truncated protein termed GATA1s (where s indicates short) cause congenital hypoplastic anemia. In patients …
MW Wlodarski, L Da Costa, MF O'Donohue… - …, 2018 - ncbi.nlm.nih.gov
Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure disorder linked predominantly to ribosomal protein gene mutations. Here the European DBA consortium …
C Amann, A Geipel, A Müller, A Heep… - Ultraschall in der …, 2011 - thieme-connect.com
Ziel: Ursachenverteilung und Befunde bei transfusionspflichtigen fetalen Anämien unter Berücksichtigung seltener Erkrankungen. Material und Methoden: Retrospektive …
K Gadhiya, C Wills - StatPearls [Internet], 2023 - ncbi.nlm.nih.gov
Objectives: Describe the genetic mutations in Diamond Blackfan anemia. Outline the presentation of Diamond Blackfan anemia. Summarize the treatment of Diamond Blackfan …
BP Alter, M Kumar, LL Lockhart… - British journal of …, 1999 - Wiley Online Library
Pregnancy in bone marrow failure syndromes has risk to mother and fetus. There are fewer than 30 reports of cases with Diamond‐Blackfan anaemia (DBA), and none with …
Background: Autosomal dominant inheritance of Diamond-Blackfan syndrome has been considered an uncommon occurrence. The onset of anemia is characteristically within the …
AE Dunbar Iii, SL Moore… - American journal of …, 2003 - thieme-connect.com
We present a case of fetal Diamond-Blackfan anemia (DBA) associated with hydrops fetalis and review the current literature focusing on the pathophysiology and presentation of DBA …
TN Willig, SE Ball, G Tchernia - Current opinion in hematology, 1998 - journals.lww.com
Diamond-Blackfan anemia, although rare, has been the focus of much attention with respect to both its clinical features and the characterization of the in vitro erythroid defect. Despite …