The effect of red blood cell disorders on male fertility and reproductive health
Nature Reviews Urology, Published online: 03 January 2024; doi:10.1038/s41585-023-00838-8Haemoglobinopathies, systemic iron imbalances, bone marrow failure syndromes and nutritional deficiencies causing abnormalities in red blood cell physiology have been associated with male infertility. In this Review, the authors explore the effects of erythrocyte disorders and their treatment on male reproductive health. (Source: Nature Reviews Urology)
Source: Nature Reviews Urology - January 3, 2024 Category: Urology & Nephrology Authors: Bryan D. Naelitz Prajit S. Khooblall Neel V. Parekh Sarah C. Vij Seth J. Rotz Scott D. Lundy Source Type: research

Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-designed Next Generation Sequencing Panel
We report the laboratory validation and clinical utility of a large custom-designed NGS panel, CHOP IBMFS panel, for the diagnosis of IBMFS in a large cohort of pediatric patients. This panel demonstrated excellent analytic accuracy with 100% sensitivity, ≥99.99% specificity, and 100% reproducibility on validation samples. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - December 14, 2023 Category: Pathology Authors: Fumin Lin, Kajia Cao, Fengqi Chang, Joseph H. Oved, Minjie Luo, Zhiqian Fan, Jeffrey Schubert, Jinhua Wu, Yiming Zhong, Daniel J. Gallo, Elizabeth H. Denenberg, Jiani Chen, Elizabeth A. Fanning, Michele P. Lambert, Michele E. Paessler, Lea F. Surrey, Kris Tags: Regular Article Source Type: research

When to consider inherited marrow failure syndromes in adults
Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):548-555. doi: 10.1182/hematology.2023000488.ABSTRACTThe inherited bone marrow failure syndromes (IBMFS) are a heterogenous group of disorders caused by germline mutations in related genes and characterized by bone marrow failure (BMF), disease specific organ involvement, and, in most cases, predisposition to malignancy. Their distinction from immune marrow failure can often be challenging, particularly when presentations occur in adulthood or are atypical. A combination of functional (disease specific assays) and genetic testing is optimal in assessing all new BMF ...
Source: Hematology ASH Education Program - December 9, 2023 Category: Hematology Authors: Fernanda Gutierrez-Rodrigues Bhavisha A Patel Emma M Groarke Source Type: research

Minimal intensity conditioning strategies for bone marrow failure: is it time for "preventative" transplants?
Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):135-140. doi: 10.1182/hematology.2023000470.ABSTRACTHematopoietic cell transplantation (HCT) can cure blood dyscrasias and reduce the risk of hematologic cancers in patients with inherited bone marrow failure syndromes (IBMFS). However, because of its high mortality rate, HCT is generally reserved until patients with IBMFS manifest life-threatening cytopenias or myeloid malignancy, at which point outcomes are poor. Screening tests that accurately predict transformation and enable timely intervention are lacking. These unknowns and risks limit the use of HCT in pati...
Source: Hematology ASH Education Program - December 9, 2023 Category: Hematology Authors: Suneet Agarwal Source Type: research

When to consider inherited marrow failure syndromes in adults
Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):548-555. doi: 10.1182/hematology.2023000488.ABSTRACTThe inherited bone marrow failure syndromes (IBMFS) are a heterogenous group of disorders caused by germline mutations in related genes and characterized by bone marrow failure (BMF), disease specific organ involvement, and, in most cases, predisposition to malignancy. Their distinction from immune marrow failure can often be challenging, particularly when presentations occur in adulthood or are atypical. A combination of functional (disease specific assays) and genetic testing is optimal in assessing all new BMF ...
Source: Hematology ASH Education Program - December 9, 2023 Category: Hematology Authors: Fernanda Gutierrez-Rodrigues Bhavisha A Patel Emma M Groarke Source Type: research

Minimal intensity conditioning strategies for bone marrow failure: is it time for "preventative" transplants?
Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):135-140. doi: 10.1182/hematology.2023000470.ABSTRACTHematopoietic cell transplantation (HCT) can cure blood dyscrasias and reduce the risk of hematologic cancers in patients with inherited bone marrow failure syndromes (IBMFS). However, because of its high mortality rate, HCT is generally reserved until patients with IBMFS manifest life-threatening cytopenias or myeloid malignancy, at which point outcomes are poor. Screening tests that accurately predict transformation and enable timely intervention are lacking. These unknowns and risks limit the use of HCT in pati...
Source: Hematology ASH Education Program - December 9, 2023 Category: Hematology Authors: Suneet Agarwal Source Type: research

When to consider inherited marrow failure syndromes in adults
Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):548-555. doi: 10.1182/hematology.2023000488.ABSTRACTThe inherited bone marrow failure syndromes (IBMFS) are a heterogenous group of disorders caused by germline mutations in related genes and characterized by bone marrow failure (BMF), disease specific organ involvement, and, in most cases, predisposition to malignancy. Their distinction from immune marrow failure can often be challenging, particularly when presentations occur in adulthood or are atypical. A combination of functional (disease specific assays) and genetic testing is optimal in assessing all new BMF ...
Source: Hematology ASH Education Program - December 9, 2023 Category: Hematology Authors: Fernanda Gutierrez-Rodrigues Bhavisha A Patel Emma M Groarke Source Type: research

Minimal intensity conditioning strategies for bone marrow failure: is it time for "preventative" transplants?
Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):135-140. doi: 10.1182/hematology.2023000470.ABSTRACTHematopoietic cell transplantation (HCT) can cure blood dyscrasias and reduce the risk of hematologic cancers in patients with inherited bone marrow failure syndromes (IBMFS). However, because of its high mortality rate, HCT is generally reserved until patients with IBMFS manifest life-threatening cytopenias or myeloid malignancy, at which point outcomes are poor. Screening tests that accurately predict transformation and enable timely intervention are lacking. These unknowns and risks limit the use of HCT in pati...
Source: Hematology ASH Education Program - December 9, 2023 Category: Hematology Authors: Suneet Agarwal Source Type: research

When to consider inherited marrow failure syndromes in adults
Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):548-555. doi: 10.1182/hematology.2023000488.ABSTRACTThe inherited bone marrow failure syndromes (IBMFS) are a heterogenous group of disorders caused by germline mutations in related genes and characterized by bone marrow failure (BMF), disease specific organ involvement, and, in most cases, predisposition to malignancy. Their distinction from immune marrow failure can often be challenging, particularly when presentations occur in adulthood or are atypical. A combination of functional (disease specific assays) and genetic testing is optimal in assessing all new BMF ...
Source: Hematology ASH Education Program - December 9, 2023 Category: Hematology Authors: Fernanda Gutierrez-Rodrigues Bhavisha A Patel Emma M Groarke Source Type: research

Minimal intensity conditioning strategies for bone marrow failure: is it time for "preventative" transplants?
Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):135-140. doi: 10.1182/hematology.2023000470.ABSTRACTHematopoietic cell transplantation (HCT) can cure blood dyscrasias and reduce the risk of hematologic cancers in patients with inherited bone marrow failure syndromes (IBMFS). However, because of its high mortality rate, HCT is generally reserved until patients with IBMFS manifest life-threatening cytopenias or myeloid malignancy, at which point outcomes are poor. Screening tests that accurately predict transformation and enable timely intervention are lacking. These unknowns and risks limit the use of HCT in pati...
Source: Hematology ASH Education Program - December 9, 2023 Category: Hematology Authors: Suneet Agarwal Source Type: research

When to consider inherited marrow failure syndromes in adults
Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):548-555. doi: 10.1182/hematology.2023000488.ABSTRACTThe inherited bone marrow failure syndromes (IBMFS) are a heterogenous group of disorders caused by germline mutations in related genes and characterized by bone marrow failure (BMF), disease specific organ involvement, and, in most cases, predisposition to malignancy. Their distinction from immune marrow failure can often be challenging, particularly when presentations occur in adulthood or are atypical. A combination of functional (disease specific assays) and genetic testing is optimal in assessing all new BMF ...
Source: Hematology ASH Education Program - December 9, 2023 Category: Hematology Authors: Fernanda Gutierrez-Rodrigues Bhavisha A Patel Emma M Groarke Source Type: research

Minimal intensity conditioning strategies for bone marrow failure: is it time for "preventative" transplants?
Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):135-140. doi: 10.1182/hematology.2023000470.ABSTRACTHematopoietic cell transplantation (HCT) can cure blood dyscrasias and reduce the risk of hematologic cancers in patients with inherited bone marrow failure syndromes (IBMFS). However, because of its high mortality rate, HCT is generally reserved until patients with IBMFS manifest life-threatening cytopenias or myeloid malignancy, at which point outcomes are poor. Screening tests that accurately predict transformation and enable timely intervention are lacking. These unknowns and risks limit the use of HCT in pati...
Source: Hematology ASH Education Program - December 9, 2023 Category: Hematology Authors: Suneet Agarwal Source Type: research

When to consider inherited marrow failure syndromes in adults
Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):548-555. doi: 10.1182/hematology.2023000488.ABSTRACTThe inherited bone marrow failure syndromes (IBMFS) are a heterogenous group of disorders caused by germline mutations in related genes and characterized by bone marrow failure (BMF), disease specific organ involvement, and, in most cases, predisposition to malignancy. Their distinction from immune marrow failure can often be challenging, particularly when presentations occur in adulthood or are atypical. A combination of functional (disease specific assays) and genetic testing is optimal in assessing all new BMF ...
Source: Hematology ASH Education Program - December 9, 2023 Category: Hematology Authors: Fernanda Gutierrez-Rodrigues Bhavisha A Patel Emma M Groarke Source Type: research

Minimal intensity conditioning strategies for bone marrow failure: is it time for "preventative" transplants?
Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):135-140. doi: 10.1182/hematology.2023000470.ABSTRACTHematopoietic cell transplantation (HCT) can cure blood dyscrasias and reduce the risk of hematologic cancers in patients with inherited bone marrow failure syndromes (IBMFS). However, because of its high mortality rate, HCT is generally reserved until patients with IBMFS manifest life-threatening cytopenias or myeloid malignancy, at which point outcomes are poor. Screening tests that accurately predict transformation and enable timely intervention are lacking. These unknowns and risks limit the use of HCT in pati...
Source: Hematology ASH Education Program - December 9, 2023 Category: Hematology Authors: Suneet Agarwal Source Type: research