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Book: Bone marrow failure

Sieff, Colin A.

(Hematology/oncology clinics of North America ; volume 32, number 4 (August 2018))

2018

Author's details	editor Colin A. Sieff
Series title	Hematology/oncology clinics of North America ; volume 32, number 4 (August 2018) Hematology, oncology clinics of North America
Collection	Hematology, oncology clinics of North America
Language	English
Size	xv Seiten, Seite 570-743, Illustrationen
Publisher	Elsevier
Publishing place	Philadelphia, Pennsylvania
Publishing country	United States
Document type	Book
HBZ-ID	HT019801823
ISBN	978-0-323-61390-3 ; 0-323-61390-X
Database	Catalogue ZB MED Medicine, Health

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Article ; Online: Acquired and Inherited Bone Marrow Failure Syndromes.

Sieff, Colin A

Hematology/oncology clinics of North America

2018 Volume 32, Issue 4, Page(s) xiii–xiv

MeSH term(s)	Anemia, Aplastic/genetics ; Anemia, Aplastic/metabolism ; Anemia, Aplastic/pathology ; Anemia, Aplastic/therapy ; Bone Marrow Diseases/genetics ; Bone Marrow Diseases/metabolism ; Bone Marrow Diseases/pathology ; Bone Marrow Diseases/therapy ; Bone Marrow Failure Disorders ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/metabolism ; Genetic Diseases, Inborn/pathology ; Genetic Diseases, Inborn/therapy ; Hemoglobinuria, Paroxysmal/genetics ; Hemoglobinuria, Paroxysmal/metabolism ; Hemoglobinuria, Paroxysmal/pathology ; Hemoglobinuria, Paroxysmal/therapy ; Humans ; Portraits as Topic
Language	English
Publishing date	2018-07-25
Publishing country	United States
Document type	Editorial
ZDB-ID	93115-9
ISSN	1558-1977 ; 0889-8588
ISSN (online)	1558-1977
ISSN	0889-8588
DOI	10.1016/j.hoc.2018.05.001
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Article ; Online: Introduction to Acquired and Inherited Bone Marrow Failure.

Sieff, Colin A

Hematology/oncology clinics of North America

2018 Volume 32, Issue 4, Page(s) 569–580

Abstract: Acquired aplastic anemia and inherited bone marrow failure syndromes both present with pancytopenia and must be distinguished because they have differences in treatment decisions and continued monitoring requirements. Advances in the genetic ... ...

Abstract	Acquired aplastic anemia and inherited bone marrow failure syndromes both present with pancytopenia and must be distinguished because they have differences in treatment decisions and continued monitoring requirements. Advances in the genetic interrogation of patient samples have led to identification of inherited germline diseases and appreciation that patients with inherited bone marrow failure disorders may be normal in appearance with few expected clinical clues. Somatic mutations in aplastic anemia may have prognostic value. Hematopoietic stem cells from inherited marrow failure diseases can correct the proliferative defect and may develop further somatic mutations that progress to myelodysplastic syndrome or acute myeloid leukemia.
MeSH term(s)	Anemia, Aplastic/genetics ; Anemia, Aplastic/metabolism ; Anemia, Aplastic/pathology ; Bone Marrow/metabolism ; Bone Marrow/pathology ; Bone Marrow Diseases/genetics ; Bone Marrow Diseases/metabolism ; Bone Marrow Diseases/pathology ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/metabolism ; Genetic Diseases, Inborn/pathology ; Hemoglobinuria, Paroxysmal/genetics ; Hemoglobinuria, Paroxysmal/metabolism ; Hemoglobinuria, Paroxysmal/pathology ; Humans ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/metabolism ; Leukemia, Myeloid, Acute/pathology ; Mutation ; Myelodysplastic Syndromes/genetics ; Myelodysplastic Syndromes/metabolism ; Myelodysplastic Syndromes/pathology
Language	English
Publishing date	2018-07-25
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	93115-9
ISSN	1558-1977 ; 0889-8588
ISSN (online)	1558-1977
ISSN	0889-8588
DOI	10.1016/j.hoc.2018.04.008
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Article ; Online: Characteristic peripheral blood smear findings in disorders of cobalamin metabolism.

Li, Hojun / Sieff, Colin

Blood

2016 Volume 128, Issue 21, Page(s) 2584

MeSH term(s)	Erythrocytes, Abnormal/enzymology ; Erythrocytes, Abnormal/pathology ; Ferredoxin-NADP Reductase/genetics ; Ferredoxin-NADP Reductase/metabolism ; Homocysteine/genetics ; Homocysteine/metabolism ; Humans ; Infant ; Male ; Methionine/blood ; Methionine/genetics ; Mutation ; Neutrophils/enzymology ; Neutrophils/pathology ; Vitamin B 12 ; Vitamin B 12 Deficiency/enzymology ; Vitamin B 12 Deficiency/genetics ; Vitamin B 12 Deficiency/pathology
Chemical Substances	Homocysteine (0LVT1QZ0BA) ; Methionine (AE28F7PNPL) ; methionine synthase reductase (EC 1.18.1.-) ; Ferredoxin-NADP Reductase (EC 1.18.1.2) ; Vitamin B 12 (P6YC3EG204)
Language	English
Publishing date	2016-11-05
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood-2016-08-736991
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Article ; Online: Critical Issues in Diamond-Blackfan Anemia and Prospects for Novel Treatment.

Li, Hojun / Lodish, Harvey F / Sieff, Colin A

Hematology/oncology clinics of North America

2018 Volume 32, Issue 4, Page(s) 701–712

Abstract: Diamond-Blackfan anemia (DBA) is a severe congenital hypoplastic anemia caused by mutation in a ribosomal protein gene. Major clinical issues concern the optimal management of patients resistant to steroids, the first-line therapy. Hematopoietic stem ... ...

Abstract	Diamond-Blackfan anemia (DBA) is a severe congenital hypoplastic anemia caused by mutation in a ribosomal protein gene. Major clinical issues concern the optimal management of patients resistant to steroids, the first-line therapy. Hematopoietic stem cell transplantation is indicated in young patients with an HLA-matched unaffected sibling donor, and recent results with matched unrelated donor transplants indicate that these patients also do well. When neither steroids nor a transplant is possible red cell transfusions are required, and iron loading is rapid in some DBA patients, so effective chelation is vital. Also discussed are novel treatments under investigation for DBA.
MeSH term(s)	Allografts ; Anemia, Diamond-Blackfan/genetics ; Anemia, Diamond-Blackfan/metabolism ; Anemia, Diamond-Blackfan/pathology ; Anemia, Diamond-Blackfan/therapy ; Erythrocyte Transfusion ; Hematopoietic Stem Cell Transplantation ; Humans ; Mutation ; Siblings ; Tissue Donors
Language	English
Publishing date	2018-06-05
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	93115-9
ISSN	1558-1977 ; 0889-8588
ISSN (online)	1558-1977
ISSN	0889-8588
DOI	10.1016/j.hoc.2018.04.005
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Article ; Online: A Successful Collaborative Approach to the Perioperative Management After Hip Arthroscopy of a Patient with Heterozygous Prothrombin G20210A Mutation: A Case Report.

Parsa, Ali / Nazal, Mark R / Stelzer, John W / Sieff, Colin A / Martin, Scott D

JBJS case connector

2019 Volume 9, Issue 2, Page(s) e0376

Abstract: Case: We report on a patient with heterozygous prothrombin G20210A mutation (PTM) and a history of venous thromboembolism (VTE) after knee arthroscopy, who was undergoing hip arthroscopy. This common mutation has an overall prevalence of 2.0% and ... ...

Abstract	Case: We report on a patient with heterozygous prothrombin G20210A mutation (PTM) and a history of venous thromboembolism (VTE) after knee arthroscopy, who was undergoing hip arthroscopy. This common mutation has an overall prevalence of 2.0% and results in a 280% to 420% likelihood of thrombosis compared to patients without the mutation. Conclusions: Hip arthroscopy is associated with a low risk of VTE with currently no guidelines for thromboprophylaxis. Patients should be managed in relation to their risk factors utilizing a collaborative, individualized approach. Treatment with short-term low-molecular-weight heparin resulted in no thromboembolism at 18-month follow-up for this patient with PTM.
MeSH term(s)	Adolescent ; Aftercare ; Anticoagulants/therapeutic use ; Arthroscopy/adverse effects ; Arthroscopy/methods ; Female ; Heparin, Low-Molecular-Weight/therapeutic use ; Heterozygote ; Hip Joint/diagnostic imaging ; Hip Joint/pathology ; Hip Joint/surgery ; Humans ; Interdisciplinary Placement/methods ; Mutation/genetics ; Perioperative Care/methods ; Risk Factors ; Thrombophilia/drug therapy ; Thrombophilia/epidemiology ; Thrombophilia/genetics ; Treatment Outcome ; Venous Thromboembolism/etiology ; Venous Thromboembolism/prevention & control
Chemical Substances	Anticoagulants ; Heparin, Low-Molecular-Weight
Language	English
Publishing date	2019-05-24
Publishing country	United States
Document type	Case Reports ; Journal Article
ISSN	2160-3251
ISSN (online)	2160-3251
DOI	10.2106/JBJS.CC.18.00376
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Article ; Online: A

Vandorpe, David H / Shmukler, Boris E / Ilboudo, Yann / Bhasin, Swati / Thomas, Beena / Rivera, Alicia / Wohlgemuth, Jay G / Dlott, Jeffrey S / Snyder, L Michael / Sieff, Colin / Bhasin, Manoj / Lettre, Guillaume / Brugnara, Carlo / Alper, Seth L

Haematologica

2021 Volume 106, Issue 10, Page(s) 2759–2762

MeSH term(s)	Cations ; Humans ; Permeability ; Spherocytosis, Hereditary
Chemical Substances	Cations
Language	English
Publishing date	2021-10-01
Publishing country	Italy
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	2333-4
ISSN	1592-8721 ; 0017-6567 ; 0390-6078
ISSN (online)	1592-8721
ISSN	0017-6567 ; 0390-6078
DOI	10.3324/haematol.2021.278770
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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: L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry.

Vlachos, Adrianna / Atsidaftos, Evangelia / Lababidi, Mohammad Lutfi / Muir, Ellen / Rogers, Zora R / Alhushki, Waseem / Bernstein, Jonathan / Glader, Bertil / Gruner, Barbara / Hartung, Helge / Knoll, Christine / Loew, Thomas / Nalepa, Grzegorz / Narla, Anupama / Panigrahi, Arun R / Sieff, Colin A / Walkovich, Kelly / Farrar, Jason E / Lipton, Jeffrey M

Pediatric blood & cancer

2020 Volume 67, Issue 12, Page(s) e28748

Abstract: Background: Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by anemia, short stature, congenital anomalies, and cancer predisposition. Most cases are due to mutations in genes encoding ribosomal proteins (RP) ... ...

Abstract	Background: Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by anemia, short stature, congenital anomalies, and cancer predisposition. Most cases are due to mutations in genes encoding ribosomal proteins (RP) leading to RP haploinsufficiency. Effective treatments for the anemia of DBA include chronic red cell transfusions, long-term corticosteroid therapy, or hematopoietic stem cell transplantation. In a small patient series and in animal models, there have been hematologic responses to L-leucine with amelioration of anemia. The study objectives of this clinical trial were to determine feasibility, safety, and efficacy of L-leucine in transfusion-dependent patients with DBA. Procedure: Patients ≥2 years of age received L-leucine 700 mg/m Results: This multicenter, phase I/II study enrolled 55 subjects; 43 were evaluable. There were 21 males; the median age at enrollment was 10.4 years (range, 2.5-46.1 years). No significant adverse events were attributable to L-leucine. Two subjects had a complete erythroid response and five had a partial response. Nine of 25, and 11 of 25, subjects experienced a positive weight and height percentile change, respectively, at the end of therapy. Conclusions: L-leucine is safe, resulted in an erythroid response in 16% of subjects with DBA, and led to an increase in weight and linear growth velocity in 36% and 44% of evaluable subjects, respectively. Further studies will be critical to understand the role of L-leucine in the management of patients with DBA.
MeSH term(s)	Adolescent ; Adult ; Anemia, Diamond-Blackfan/pathology ; Anemia, Diamond-Blackfan/therapy ; Blood Transfusion/methods ; Child ; Child, Preschool ; Combined Modality Therapy ; Feasibility Studies ; Female ; Follow-Up Studies ; Humans ; Leucine/therapeutic use ; Male ; Middle Aged ; Pilot Projects ; Prognosis ; Young Adult
Chemical Substances	Leucine (GMW67QNF9C)
Language	English
Publishing date	2020-10-06
Publishing country	United States
Document type	Clinical Trial, Phase I ; Clinical Trial, Phase II ; Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2131448-2
ISSN	1545-5017 ; 1545-5009
ISSN (online)	1545-5017
ISSN	1545-5009
DOI	10.1002/pbc.28748
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Article ; Online: TGFβ signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome.

Joyce, Cailin E / Saadatpour, Assieh / Ruiz-Gutierrez, Melisa / Bolukbasi, Ozge Vargel / Jiang, Lan / Thomas, Dolly D / Young, Sarah / Hofmann, Inga / Sieff, Colin A / Myers, Kasiani C / Whangbo, Jennifer / Libermann, Towia A / Nusbaum, Chad / Yuan, Guo-Cheng / Shimamura, Akiko / Novina, Carl D

The Journal of clinical investigation

2019 Volume 129, Issue 9, Page(s) 3821–3826

Abstract: Shwachman-Diamond Syndrome (SDS) is a rare and clinically-heterogeneous bone marrow (BM) failure syndrome caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. Although SDS was described over 50 years ago, the molecular pathogenesis ... ...

Abstract	Shwachman-Diamond Syndrome (SDS) is a rare and clinically-heterogeneous bone marrow (BM) failure syndrome caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. Although SDS was described over 50 years ago, the molecular pathogenesis is poorly understood due, in part, to the rarity and heterogeneity of the affected hematopoietic progenitors. To address this, we used single cell RNA sequencing to profile scant hematopoietic stem and progenitor cells from SDS patients. We generated a single cell map of early lineage commitment and found that SDS hematopoiesis was left-shifted with selective loss of granulocyte-monocyte progenitors. Transcriptional targets of transforming growth factor-beta (TGFβ) were dysregulated in SDS hematopoietic stem cells and multipotent progenitors, but not in lineage-committed progenitors. TGFβ inhibitors (AVID200 and SD208) increased hematopoietic colony formation of SDS patient BM. Finally, TGFβ3 and other TGFβ pathway members were elevated in SDS patient blood plasma. These data establish the TGFβ pathway as a novel candidate biomarker and therapeutic target in SDS and translate insights from single cell biology into a potential therapy.
MeSH term(s)	Adolescent ; Adult ; Antigens, CD34/metabolism ; Bone Marrow/physiopathology ; Cell Differentiation ; Cell Lineage ; Child ; Granulocytes/cytology ; Hematopoiesis ; Hematopoietic Stem Cells/pathology ; Humans ; Inflammation ; Monocytes/cytology ; Mutation ; Phosphorylation ; Sequence Analysis, RNA ; Shwachman-Diamond Syndrome/physiopathology ; Signal Transduction ; Transforming Growth Factor beta/metabolism ; Transforming Growth Factor beta1/metabolism ; Young Adult
Chemical Substances	Antigens, CD34 ; TGFB1 protein, human ; Transforming Growth Factor beta ; Transforming Growth Factor beta1
Language	English
Publishing date	2019-06-18
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	3067-3
ISSN	1558-8238 ; 0021-9738
ISSN (online)	1558-8238
ISSN	0021-9738
DOI	10.1172/JCI125375
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