Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians

Laura A. Newman, Meghan A. Luter, Dereck B. Davis, Omar A. Abdul-Rahman, Juantina M. Johnson, Gail C. Megason

Research output: Contribution to journalArticlepeer-review

Abstract

Congenital amegakaryocytic thrombocytopenia is a rare disorder causing thrombocytopenia that progresses to pancytopenia and bone marrow failure if untreated. It is caused by variants in the MPL gene which encodes the thrombopoeitin receptor. In this report, we review 5 cases of congenital amegakaryocytic thrombocytopenia, all of whom belong to the Mississippi Band of Choctaw Indians. There are 2 common variants in these cases: R90X and R537W. One variant was previously reported only once and had unclear significance at that time. With these variants identified, we hope to improve screening that results in earlier diagnosis in the Choctaw population in the future.

Original languageEnglish (US)
Pages (from-to)573-575
Number of pages3
JournalJournal of Pediatric Hematology/Oncology
Volume39
Issue number7
DOIs
StatePublished - 2017
Externally publishedYes

Keywords

  • CAMT
  • Choctaw
  • genetics
  • thrombocytopenia
  • transplant

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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