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Article: A Post-Authorization Safety Surveillance Study to Report Clinical Experience with Purified Factor IX Concentrate in Pediatric Patients with Hemophilia B.

Igrutinović, Zoran / Hooimeijer, Hélène Louise / Kentouche, Karim / Botha, Jaco / Turecek, Peter L / Kokot-Kierepa, Marta / Gazda, Hanna T

Journal of blood medicine

2024 Volume 15, Page(s) 113–122

Abstract: Introduction: Purified factor IX (FIX) concentrate (IMMUNINE: Aim: Document real-world clinical experience with purified FIX concentrate in routine practice for pediatric patients with hemophilia B.: Methods: This prospective post-authorization ... ...

Abstract	Introduction: Purified factor IX (FIX) concentrate (IMMUNINE Aim: Document real-world clinical experience with purified FIX concentrate in routine practice for pediatric patients with hemophilia B. Methods: This prospective post-authorization safety surveillance study enrolled patients ≤6 years old with moderate or severe hemophilia B (baseline FIX ≤5%) who were prescribed purified FIX concentrate, as determined by the treating physician. The planned observation period for each patient was either 12 months or ≥50 exposure days, whichever occurred first. The primary endpoints were the occurrence of treatment-related adverse events (AEs) and serious AEs (SAEs), and inhibitor development. Results: Thirteen male patients (mean ± standard deviation age, 3.80 ± 1.76 years) enrolled and received ≥1 treatment with purified FIX concentrate. Thirty-two AEs were reported in 6 patients; 4 were SAEs. No AEs were considered related to purified FIX concentrate. No patients developed inhibitory antibodies. Inhibitor testing was not conducted in 2 patients. Eighteen bleeding episodes were treated with purified FIX concentrate in 6 patients. Hemostatic efficacy was rated as either "excellent" or "good" in all patients with an available rating. Conclusion: No treatment-related AEs were reported, and purified FIX concentrate was shown to be effective in treating and preventing bleeding episodes in pediatric patients ≤6 years old with hemophilia B.
Language	English
Publishing date	2024-03-05
Publishing country	New Zealand
Document type	Journal Article
ZDB-ID	2587464-0
ISSN	1179-2736
ISSN	1179-2736
DOI	10.2147/JBM.S425617
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Article ; Online: Ribosomopathies: how a common root can cause a tree of pathologies.

Danilova, Nadia / Gazda, Hanna T

Disease models & mechanisms

2015 Volume 8, Issue 9, Page(s) 1013–1026

Abstract: Defects in ribosome biogenesis are associated with a group of diseases called the ribosomopathies, of which Diamond-Blackfan anemia (DBA) is the most studied. Ribosomes are composed of ribosomal proteins (RPs) and ribosomal RNA (rRNA). RPs and multiple ... ...

Abstract	Defects in ribosome biogenesis are associated with a group of diseases called the ribosomopathies, of which Diamond-Blackfan anemia (DBA) is the most studied. Ribosomes are composed of ribosomal proteins (RPs) and ribosomal RNA (rRNA). RPs and multiple other factors are necessary for the processing of pre-rRNA, the assembly of ribosomal subunits, their export to the cytoplasm and for the final assembly of subunits into a ribosome. Haploinsufficiency of certain RPs causes DBA, whereas mutations in other factors cause various other ribosomopathies. Despite the general nature of their underlying defects, the clinical manifestations of ribosomopathies differ. In DBA, for example, red blood cell pathology is especially evident. In addition, individuals with DBA often have malformations of limbs, the face and various organs, and also have an increased risk of cancer. Common features shared among human DBA and animal models have emerged, such as small body size, eye defects, duplication or overgrowth of ectoderm-derived structures, and hematopoietic defects. Phenotypes of ribosomopathies are mediated both by p53-dependent and -independent pathways. The current challenge is to identify differences in response to ribosomal stress that lead to specific tissue defects in various ribosomopathies. Here, we review recent findings in this field, with a particular focus on animal models, and discuss how, in some cases, the different phenotypes of ribosomopathies might arise from differences in the spatiotemporal expression of the affected genes.
MeSH term(s)	Anemia, Diamond-Blackfan/blood ; Anemia, Diamond-Blackfan/genetics ; Anemia, Diamond-Blackfan/physiopathology ; Animals ; Cell Cycle ; Cell Proliferation ; Disease Models, Animal ; Erythrocytes/pathology ; Erythropoiesis ; Hematopoiesis ; Humans ; Immunity, Innate ; Mutation ; Neoplasms/metabolism ; Phenotype ; RNA, Ribosomal/analysis ; Ribosomal Proteins/genetics ; Ribosomes/pathology ; Ribosomes/ultrastructure ; Tumor Suppressor Protein p53/metabolism
Chemical Substances	RNA, Ribosomal ; Ribosomal Proteins ; Tumor Suppressor Protein p53
Language	English
Publishing date	2015-09
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Review
ISSN	1754-8411
ISSN (online)	1754-8411
DOI	10.1242/dmm.020529
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Article ; Online: Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia.

Kazerounian, Shideh / Yuan, Daniel / Alexander, Matthew S / Beggs, Alan H / Gazda, Hanna T

Discoveries (Craiova, Romania)

2019 Volume 7, Issue 3, Page(s) e96

Abstract: Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow disorder with mutations in ribosomal protein genes. Several animal models have been developed to study the pathological mechanism of DBA. Previously, we reported that the complete knock-out ... ...

Abstract	Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow disorder with mutations in ribosomal protein genes. Several animal models have been developed to study the pathological mechanism of DBA. Previously, we reported that the complete knock-out of both Rpl5 and Rps24 alleles were lethal, while heterozygous Rpl5+/- and Rps24+/- mice showed normal phenotype. To establish a more efficient mouse model for mimicking DBA symptoms, we have taken advantage of RNAi technology to generate an inducible mouse model utilizing tetracycline-induced down-regulation of Rpl5. After two weeks of treatment with doxycycline in drinking water, a subset of treated shRNA Rpl5+/- adult mice developed mild anemia while control mice had normal complete blood counts. Similarly, treated shRNA Rpl5+/- mice developed reticulocytopenia and bone marrow erythroblastopenia. Detection of DBA symptoms in these mice make them a valuable DBA model for studying the pathological mechanism underlying DBA and for further assessment of the disease and drug testing for novel therapies.
Language	English
Publishing date	2019-09-30
Publishing country	Romania
Document type	Journal Article
ISSN	2359-7232
ISSN (online)	2359-7232
DOI	10.15190/d.2019.9
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Article: Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models

Chakraborty, Anirban / Uechi, Tamayo / Nakajima, Yukari / Gazda, Hanna T / O'Donohue, Marie-Françoise / Gleizes, Pierre-Emmanuel / Kenmochi, Naoya

Biochemical and biophysical research communications. 2018 Jan. 08, v. 495, no. 2

2018

Abstract: Mutations in genes encoding ribosomal proteins have been identified in Diamond-Blackfan anemia (DBA), a rare genetic disorder that presents with a prominent erythroid phenotype. TP53 has been implicated in the pathophysiology of DBA with ribosomal ... ...

Abstract	Mutations in genes encoding ribosomal proteins have been identified in Diamond-Blackfan anemia (DBA), a rare genetic disorder that presents with a prominent erythroid phenotype. TP53 has been implicated in the pathophysiology of DBA with ribosomal protein (RP) L11 playing a crucial role in the TP53 response. Interestingly, RPL11 also controls the transcriptional activity of c-Myc, an oncoprotein that positively regulates ribosome biogenesis. In the present study, we analyzed the consequences of rpl11 depletion on erythropoiesis and ribosome biogenesis in zebrafish. As expected, Rpl11-deficient zebrafish exhibited defects in ribosome biogenesis and an anemia phenotype. However, co-inhibition of Tp53 did not alleviate the erythroid aplasia in these fish. Next, we explored the role of c-Myc in RPL11-deficient cellular and animal models. c-Myc and its target nucleolar proteins showed upregulation and increased localization in the head region of Rpl11-deficient zebrafish, where the morphological abnormalities and tp53 expression were more pronounced. Interestingly, in blood cells derived from DBA patients with mutations in RPL11, the biogenesis of ribosomes was defective, but the expression level of c-Myc and its target nucleolar proteins was unchanged. The results suggest a model whereby RPL11 deficiency activates the synthesis of c-Myc target nucleolar proteins, which subsequently triggers a p53 response. These results further demonstrate that the induction of Tp53 mediates the morphological, but not erythroid, defects associated with RPL11 deficiency.
Keywords	Danio rerio ; abnormal development ; anemia ; biogenesis ; erythropoiesis ; fish ; genetic disorders ; head ; oncogene proteins ; pathophysiology ; phenotype ; research ; ribosomal proteins ; ribosomes ; transcription (genetics)
Language	English
Dates of publication	2018-0108
Size	p. 1839-1845.
Publishing place	Elsevier Inc.
Document type	Article
Note	NAL-AP-2-clean
ZDB-ID	205723-2
ISSN	0006-291X ; 0006-291X
ISSN (online)	0006-291X
ISSN	0006-291X
DOI	10.1016/j.bbrc.2017.12.019
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Article ; Online: Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models.

Chakraborty, Anirban / Uechi, Tamayo / Nakajima, Yukari / Gazda, Hanna T / O'Donohue, Marie-Françoise / Gleizes, Pierre-Emmanuel / Kenmochi, Naoya

Biochemical and biophysical research communications

2018 Volume 495, Issue 2, Page(s) 1839–1845

Abstract	Mutations in genes encoding ribosomal proteins have been identified in Diamond-Blackfan anemia (DBA), a rare genetic disorder that presents with a prominent erythroid phenotype. TP53 has been implicated in the pathophysiology of DBA with ribosomal protein (RP) L11 playing a crucial role in the TP53 response. Interestingly, RPL11 also controls the transcriptional activity of c-Myc, an oncoprotein that positively regulates ribosome biogenesis. In the present study, we analyzed the consequences of rpl11 depletion on erythropoiesis and ribosome biogenesis in zebrafish. As expected, Rpl11-deficient zebrafish exhibited defects in ribosome biogenesis and an anemia phenotype. However, co-inhibition of Tp53 did not alleviate the erythroid aplasia in these fish. Next, we explored the role of c-Myc in RPL11-deficient cellular and animal models. c-Myc and its target nucleolar proteins showed upregulation and increased localization in the head region of Rpl11-deficient zebrafish, where the morphological abnormalities and tp53 expression were more pronounced. Interestingly, in blood cells derived from DBA patients with mutations in RPL11, the biogenesis of ribosomes was defective, but the expression level of c-Myc and its target nucleolar proteins was unchanged. The results suggest a model whereby RPL11 deficiency activates the synthesis of c-Myc target nucleolar proteins, which subsequently triggers a p53 response. These results further demonstrate that the induction of Tp53 mediates the morphological, but not erythroid, defects associated with RPL11 deficiency.
MeSH term(s)	Anemia, Diamond-Blackfan/genetics ; Anemia, Diamond-Blackfan/pathology ; Anemia, Diamond-Blackfan/physiopathology ; Animals ; Disease Models, Animal ; Erythropoiesis/genetics ; Fish Proteins/deficiency ; Fish Proteins/genetics ; Genes, myc ; Genes, p53 ; Humans ; Mutation ; RNA Processing, Post-Transcriptional ; Ribosomal Proteins/deficiency ; Ribosomal Proteins/genetics ; Zebrafish
Chemical Substances	Fish Proteins ; Ribosomal Proteins
Language	English
Publishing date	2018--08
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	205723-2
ISSN	1090-2104 ; 0006-291X ; 0006-291X
ISSN (online)	1090-2104 ; 0006-291X
ISSN	0006-291X
DOI	10.1016/j.bbrc.2017.12.019
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Article: Recent insights into the pathogenesis of Diamond-Blackfan anaemia.

Gazda, Hanna T / Sieff, Colin A

British journal of haematology

2006 Volume 135, Issue 2, Page(s) 149–157

Abstract: Diamond-Blackfan anaemia (DBA) is a congenital anaemia and broad developmental disease that develops soon after birth. The anaemia is due to failure of erythropoiesis, with normal platelet and myeloid lineages, and it can be managed with steroids, blood ... ...

Abstract	Diamond-Blackfan anaemia (DBA) is a congenital anaemia and broad developmental disease that develops soon after birth. The anaemia is due to failure of erythropoiesis, with normal platelet and myeloid lineages, and it can be managed with steroids, blood transfusions, or stem cell transplantation. Normal erythropoiesis after transplantation shows that the defect is intrinsic to an erythroid precursor. DBA is inherited in about 10-20% of cases, and genetic studies have identified mutations in a ribosomal protein gene, RPS19, in 25% of cases; there is evidence for involvement of at least two other genes. In yeast, RPS19 deletion leads to a block in ribosomal RNA biogenesis. The critical question is how mutations in RPS19 lead to the failure of proliferation and differentiation of erythroid progenitors. While this question has not yet been answered, understanding the biology of DBA may provide insight not only into the defect in erythropoisis, but also into the other developmental abnormalities that are present in about 40% of patients, and into the cancer predisposition that is inherent to DBA.
MeSH term(s)	Anemia, Diamond-Blackfan/genetics ; Anemia, Diamond-Blackfan/physiopathology ; Animals ; Disease Models, Animal ; Erythropoiesis/genetics ; Humans ; Mice ; Mice, Knockout ; Mutation ; Ribosomal Proteins/genetics
Chemical Substances	Ribosomal Proteins ; ribosomal protein S19
Language	English
Publishing date	2006-10
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/j.1365-2141.2006.06268.x
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Article ; Online: Recurrent GATA1 mutations in Diamond-Blackfan anaemia.

Klar, Joakim / Khalfallah, Ayda / Arzoo, Pakeeza Shaiq / Gazda, Hanna T / Dahl, Niklas

British journal of haematology

2014 Volume 166, Issue 6, Page(s) 949–951

MeSH term(s)	Adult ; Anemia, Diamond-Blackfan/genetics ; GATA1 Transcription Factor/genetics ; Humans ; Male ; Mutation/genetics ; Pedigree ; Recurrence ; Young Adult
Chemical Substances	GATA1 Transcription Factor ; GATA1 protein, human
Language	English
Publishing date	2014-09
Publishing country	England
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.12919
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Article ; Online: Puzzling outcome of the nationwide genetic survey of severe/moderate female haemophilia B in Poland.

Janczar, Szymon / Babol-Pokora, Katarzyna / Jatczak-Pawlik, Izabela / Windyga, Jerzy / Odnoczko, Edyta / Madetko-Talowska, Anna / Sadowska, Beata / Zdziarska, Joanna / Iwaniec, Teresa / Pietrys, Danuta / Balwierz, Walentyna / Gazda, Hanna T / Ploski, Rafal / Mlynarski, Wojciech

Haemophilia : the official journal of the World Federation of Hemophilia

2019 Volume 25, Issue 6, Page(s) e373–e376

MeSH term(s)	Adult ; Aged, 80 and over ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Hemophilia B/epidemiology ; Hemophilia B/genetics ; Humans ; Middle Aged ; Mutation ; Pedigree ; Poland/epidemiology ; Sex Factors ; X Chromosome Inactivation
Language	English
Publishing date	2019-10-02
Publishing country	England
Document type	Case Reports ; Letter
ZDB-ID	1229713-6
ISSN	1365-2516 ; 1351-8216 ; 1355-0691
ISSN (online)	1365-2516
ISSN	1351-8216 ; 1355-0691
DOI	10.1111/hae.13854
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Article: Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice.

Kazerounian, Shideh / Ciarlini, Pedro D S C / Yuan, Daniel / Ghazvinian, Roxanne / Alberich-Jorda, Meritxell / Joshi, Mugdha / Zhang, Hong / Beggs, Alan H / Gazda, Hanna T

Journal of Cancer

2016 Volume 7, Issue 1, Page(s) 32–36

Abstract: Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome associated with ribosomal protein (RP) gene mutations. Recent studies have also demonstrated an increased risk of cancer predisposition among DBA patients. In this study, we ... ...

Abstract	Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome associated with ribosomal protein (RP) gene mutations. Recent studies have also demonstrated an increased risk of cancer predisposition among DBA patients. In this study, we report the formation of soft tissue sarcoma in the Rpl5 and Rps24 heterozygous mice. Our observation suggests that even though one wild-type allele of the Rpl5 or Rps24 gene prevents anemia in these mice, it still predisposes them to cancer development.
Language	English
Publishing date	2016-01-01
Publishing country	Australia
Document type	Journal Article
ZDB-ID	2573318-7
ISSN	1837-9664
ISSN	1837-9664
DOI	10.7150/jca.13292
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Article ; Online: Impaired human hematopoiesis due to a cryptic intronic

The Journal of experimental medicine

2019 Volume 216, Issue 5, Page(s) 1050–1060

Abstract: Studies of allelic variation underlying genetic blood disorders have provided important insights into human hematopoiesis. Most often, the identified pathogenic mutations result in loss-of-function or missense changes. However, assessing the ... ...

Abstract	Studies of allelic variation underlying genetic blood disorders have provided important insights into human hematopoiesis. Most often, the identified pathogenic mutations result in loss-of-function or missense changes. However, assessing the pathogenicity of noncoding variants can be challenging. Here, we characterize two unrelated patients with a distinct presentation of dyserythropoietic anemia and other impairments in hematopoiesis associated with an intronic mutation in
MeSH term(s)	Adult ; Alternative Splicing/genetics ; Anemia, Dyserythropoietic, Congenital/genetics ; Child ; Exons ; GATA1 Transcription Factor/genetics ; HEK293 Cells ; Hematopoiesis/genetics ; Hematopoietic Stem Cells/metabolism ; Humans ; Introns/genetics ; Male ; Mutation, Missense ; Myelodysplastic Syndromes/genetics ; Myelodysplastic Syndromes/pathology ; RNA Splice Sites/genetics ; Transcription, Genetic/genetics ; Transfection
Chemical Substances	GATA1 Transcription Factor ; GATA1 protein, human ; RNA Splice Sites
Language	English
Publishing date	2019-03-26
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	218343-2
ISSN	1540-9538 ; 0022-1007
ISSN (online)	1540-9538
ISSN	0022-1007
DOI	10.1084/jem.20181625
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