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Defects in Bone and Bone Marrow in Inherited Anemias: the Chicken or the Egg

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Abstract

Purpose of Review

Recently, there has been an increasing number of studies on the crosstalk between the bone and the bone marrow and how it pertains to anemia. Here, we discuss four heritable clinical syndromes contrasting those in which anemia affects bone growth and development, with those in which abnormal bone development results in anemia, highlighting the multifaceted interactions between skeletal development and hematopoiesis.

Recent Findings

Anemia results from both inherited and acquired disorders caused by either impaired production or premature destruction of red blood cells or blood loss. The downstream effects on bone development and growth in patients with anemia often constitute an important part of their clinical condition. We will discuss the interdependence of abnormal bone development and growth and hematopoietic abnormalities, with a focus on the erythroid lineage. To illustrate those points, we selected four heritable anemias that arise from either defective hematopoiesis impacting the skeletal system (the hemoglobinopathies β-thalassemia and sickle cell disease) versus defective osteogenesis resulting in impaired hematopoiesis (osteopetrosis). Finally, we will discuss recent findings in Diamond Blackfan anemia, an intrinsic disorder of both the erythron and the bone.

Summary

By focusing on four representative hereditary hematopoietic disorders, this complex relationship between bone and blood should lead to new areas of research in the field.

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Acknowledgements

We would like to thank the Saint Baldrick’s Foundation, Pediatric Cancer Foundation, Gambino Medical & Science Foundation, and Diamond Blackfan Anemia Foundation for supporting this work.

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Author notes

  1. Lionel Blanc and Jeffrey M. Lipton are senior authors and contributed equally.

Authors and Affiliations

  1. Division of Hematology Oncology and Cellular Therapy, Steven and Alexandra Cohen Children’s Medical Center of New York, 269-01 76th Avenue, New Hyde Park, NY, 11040, USA

    Rachel Willimann, Christina Chougar, Lawrence C. Wolfe, Lionel Blanc & Jeffrey M. Lipton

  2. Division of Pediatric Radiology, Steven and Alexandra Cohen Children’s Medical Center of New York, 269-01 76th Avenue, New Hyde Park, NY, USA

    Christina Chougar

  3. Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA

    Christina Chougar, Lawrence C. Wolfe, Lionel Blanc & Jeffrey M. Lipton

  4. The Feinstein Institutes for Medical Research, Manhasset, NY, USA

    Lionel Blanc & Jeffrey M. Lipton

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  1. Rachel Willimann
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Correspondence to Jeffrey M. Lipton.

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Conflict of Interest

JML reports honoraria/travel support from Bristol Myers Squibb and Chiesi, USA, outside the submitted work. RW, CC, LCW and LB report no competing interests.

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Willimann, R., Chougar, C., Wolfe, L.C. et al. Defects in Bone and Bone Marrow in Inherited Anemias: the Chicken or the Egg. Curr Osteoporos Rep 21, 527–539 (2023). https://doi.org/10.1007/s11914-023-00809-3

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