Concepedia

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder

Sarah K. Westbury, Kate Downes, Claire Burney, Marı́a Luisa Lozano, Samya Obaji, Cheng‐Hock Toh, Teresa Sevivas, Neil V. Morgan, Wendy N. Erber, Carly Kempster,

Blood Advances · 2018 · 41 citations · 17 references

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Concepts

Abstract

Key Points DIAPH1-related disorder has a bilineage hematological phenotype of macrothrombocytopenia and neutropenia associated with hearing loss. Eltrombopag increased proplatelet formation from cultured DIAPH1-related disorder megakaryocytes and improved platelet counts in vivo.

References

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