Bone marrow failure in telomere biology disorders: Current understanding and the emerging landscape of non-transplant therapies

Mar 28, 2026Seminars in hematology

Bone marrow failure in telomere-related disorders and new non-transplant treatment options

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Abstract

Bone marrow failure (BMF) is the most common hematologic complication of telomere biology disorders (TBDs).

Telomere biology disorders are caused by harmful genetic changes affecting telomerase or telomere maintenance proteins.
Patients with TBD may experience clinical issues primarily in rapidly dividing tissues due to very short or dysfunctional telomeres.
Not all individuals with TBD develop bone marrow failure, indicating potential genotype/phenotype correlations.
Allogeneic hematopoietic cell transplant (HCT) can effectively treat BMF in TBD but carries risks of toxicity to other organs.
Providers face challenges in managing the balance between the risk of malignant transformation and the potential toxicity of HCT.

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Telomere biology disorders (TBDs) are a heterogeneous group of inherited systemic diseases caused by pathogenic variants in genes encoding telomerase or proteins involved in telomere maintenance or protection. With very short and/or dysfunctional telomeres, patients with TBD have clinical manifestations clustered in tissues with high rates of cell proliferation. Bone marrow failure (BMF) is the most common hematologic complication of a TBD and can precede the development of more difficult-to-treat malignant transformation. However, not all patients with TBD develop BMF, and some genotype/phenotype correlations are emerging. While allogeneic hematopoietic cell transplant (HCT) is curative for BMF in TBD, toxicities of the conditioning regimen can be detrimental to other organs. Balancing the risk of malignant transformation with HCT toxicity is a core challenge for providers who care for patients with TBD-associated BMF. Herein, we review the clinical presentation, pathophysiology, surveillance, and non-HCT treatment of BMF in TBD, including supportive care, androgens, thrombopoietin receptor agonists, and investigational approaches.

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Bone marrow failure in telomere biology disorders: Current understanding and the emerging landscape of non-transplant therapies

Abstract

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