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PO‐128 : Successful full term pregnancy and normal delivery with massive splenomegaly caused by red cell membranopathy due to a previously undescribed mutation in alpha‐spectrin SPTA1 gene

Researchers

Presenter

  • H Sinclair

Principal Investigators

  • V Tindell

  • J Sinclair

  • B Clark

  • R Johnston

Medical Centers

  • Hematology

  • Consultant Obstetrician, Brighton and Sussex University Hospitals NHS Trust, Brighton

  • Molecular Haematology, Kings College London, London, United Kingdom

Locations

  • United Kingdom

Companies

  • N/A

Study Components

Therapeutic Area

  • Central Nervous System (CNS)

Disease

  • N/A

Biomarkers

  • Abelson murine leukemia viral oncogene homolog

  • MPL proto-oncogene, thrombopoietin receptor

  • Breakpoint Cluster Region

  • Calreticulin

  • Glucose-6-phosphate dehydrogenase

  • Lactate dehydrogenase

Drug/Treatment

  • N/A

Outcome

  • N/A

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

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