scholarly journals Diamond–Blackfan anaemia: understanding an old disease

2020 ◽  
Vol 190 (1) ◽  
pp. 14-15
Author(s):  
Antonis Kattamis
Keyword(s):  
Diamond Blackfan Anaemia

scholarly journals Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy

PLoS ONE ◽  
2015 ◽  
Vol 10 (9) ◽  
pp. e0138200 ◽  
Author(s):  
Serena Macrì ◽  
Elisa Pavesi ◽  
Rossella Crescitelli ◽  
Anna Aspesi ◽  
Claudia Vizziello ◽  
...  
Keyword(s):  
Extracellular Vesicles ◽  
Diagnostic Strategy ◽  
Erythroid Progenitor ◽  
Diamond Blackfan Anaemia

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

1997 ◽  
Vol 16 (4) ◽  
pp. 368-371 ◽  
Author(s):  
Peter Gustavsson ◽  
Thiébaut-Noel Willig ◽  
Arie van Haeringen ◽  
Gil Tchernia ◽  
Irma Dianzani ◽  
...  
Keyword(s):  
Genetic Homogeneity ◽  
Diamond Blackfan Anaemia ◽  
Chromosome 19Q13

A Cas Report of Diamond-Blackfan Anaemia with RPS19 Mutation

2021 ◽  
Vol 5 (01) ◽  
pp. 37-41
Author(s):  
Quazi Smita Haque ◽  
Md. Maruf Al Hasan ◽  
Muhammad Shahidul Islam Sikder ◽  
Sazzad Zayed Chowdhury ◽  
Masba Uddin Chowdhury ◽  
...  
Keyword(s):  
Ribosomal Proteins ◽  
Human Leukocyte ◽  
Hemopoietic Stem Cell ◽  
Definitive Treatment ◽  
Red Cell ◽  
Leukocyte Antigen ◽  
Hemopoietic Stem Cell Transplantation ◽  
Ribosomal Protein S19 ◽  
Red Cell Transfusion ◽  
Diamond Blackfan Anaemia

Diamond Blackfan Anaemia (DBA) is a rare disorder which presents with anaemia in early childhood. This heterogenous disorder is mainly autosomal dominantly inherited. Significantproportions of the cases are associated with craniofacial anomalies and some cases may end up developing malignancy. The diagnosis is established by blood investigations, and bone marrow studies in which red cell precursors are reduced or absent. Screening for the mutations including those encoding for ribosomal proteins in the patient and the family members is confirmatory for diagnosis. Human Leukocyte Antigen (HLA) matched hemopoietic stem cell transplantation is the definitive treatment of choice. In other cases, corticosteroids have been tried. The haemoglobin level is maintained with packed red cell transfusion. We are presenting here a male baby who had anaemia soon after birth and was brought to us at the age of 1 year 3 months. The diagnosis of DBA was made since the patient presented with anaemia and supportive biochemical and histological evidence. Genetic screening revealed mutation in ribosomal protein S19 (RPS19) gene in the baby.

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

10.1038/5951 ◽  
1999 ◽  
Vol 21 (2) ◽  
pp. 169-175 ◽  
Author(s):  
Natalia Draptchinskaia ◽  
Peter Gustavsson ◽  
Björn Andersson ◽  
Monica Pettersson ◽  
Thiébaut-Noël Willig ◽  
...  
Keyword(s):  
Ribosomal Protein ◽  
Gene Encoding ◽  
Ribosomal Protein S19 ◽  
Diamond Blackfan Anaemia

Diamond-Blackfan Anaemia

2000 ◽  
Vol 2 (5) ◽  
pp. 345-356 ◽  
Author(s):  
Irma Dianzani ◽  
Emanuela Garelli ◽  
Ugo Ramenghi
Keyword(s):  
Diamond Blackfan Anaemia

scholarly journals Massive iron overload and acute-on-chronic liver failure in a patient with Diamond–Blackfan anaemia: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Guilherme Rossi Assis-Mendonça ◽  
Marlone Cunha-Silva ◽  
Mariana Franson Fernandes ◽  
Luiza Dias Torres ◽  
Monica Pinheiro de Almeida Verissimo ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Liver Fibrosis ◽  
Iron Overload ◽  
Liver Failure ◽  
Chelation Therapy ◽  
Chronic Liver ◽  
Iron Deposition ◽  
Blood Transfusions ◽  
Chronic Liver Failure ◽  
Diamond Blackfan Anaemia

Abstract Background Genetic anaemias lead us to reflect on the classic ‘trolley dilemma’, when there are two choices but neither one is satisfactory. Either we do not treat anaemia and the patient suffers from chronic tiredness and fatigue, or we do treat it through blood transfusions, leading to iron overload, which is a quite harmful consequence. Case presentation We present the case of a 34-year-old woman with Diamond–Blackfan anaemia (DBA). Bone marrow stem cell transplantation had not been accessible during her childhood, so she had been submitted to monthly blood transfusions throughout her life, leading to a hepatitis C virus infection (which was treated, achieving a sustained virological response when she was 18 years old), and secondary haemochromatosis. Despite chelation therapy, diffuse iron deposition was occurring in multiple organs, markedly in the heart and liver. Her serum ferritin was higher than 21,000 ng/mL and transferrin saturation reached 102%. When she faced heart decompensation, this congestive condition led to an acute liver injury overlapping pre-existing hepatic fibrosis. She progressed to haemodynamic and hepatic failure, with clinical features of acute-on-chronic liver failure (ACLF). Despite therapeutic optimisation, she died of respiratory insufficiency. An autopsy was performed and revealed the macroscopic and microscopic findings of a massive iron deposition in the liver, heart, lungs, spleen, bone marrow, thyroid and adrenal glands. We found marked advance of liver fibrosis (chronic damage), as well as necrosis of hepatocytes in zone 3 of the Rappaport acinus (acute damage), supporting the hypothesis of ACLF. The main feature responsible for acute liver decompensation seemed to be heart insufficiency. Conclusion This is the first case reporting the sequence: DBA, multiple blood transfusions, secondary haemochromatosis, advanced liver fibrosis, heart failure, ACLF and death. A multidisciplinary team is essential to care for DBA patients, since there is a significant emotional burden related to the disease, which might impair an effective chelation therapy and lead to severe consequences due to iron deposition.

Intravenous immunoglobulin in Diamond-Blackfan anaemia

1990 ◽  
Vol 149 (11) ◽  
pp. 779-780 ◽  
Author(s):  
S. Miceli Sopo ◽  
M. A. Pesaresi ◽  
M. Pastore ◽  
A. Stabile
Keyword(s):  
Intravenous Immunoglobulin ◽  
Diamond Blackfan Anaemia
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