Novel mechanism of hereditary pyropoikilocytosis phenotype due to co-inheritance of β globin and α spectrin mutations

Am J Hematol. 2021 May 1;96(5):E150-E154. doi: 10.1002/ajh.26121. Epub 2021 Feb 25.

Authors

Soo Jin Kim¹, Jihyun Song¹, N Scott Reading², Julio Lautersztain³, Abdullah Kutlar⁴, Archana M Agarwal², Theresa L Coetzer⁵, Josef T Prchal¹

Affiliations

¹ Hematology, University of Utah & Huntsman Cancer Center, Salt Lake City, Utah.
² Department of Pathology, ARUP Laboratories, Salt Lake City, Utah.
³ Florida Cancer Specialists and Research Institute, Tampa, Florida.
⁴ Medical College of Georgia, Augusta, Georgia.
⁵ Department of Molecular Medicine and Haematology, School of Pathology, University of the Witwatersrand, Johannesburg, South Africa.

PMID: 33556202
DOI: 10.1002/ajh.26121

No abstract available

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural
Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

Anemia, Hypochromic / genetics
Cells, Cultured
Child
Elliptocytosis, Hereditary / complications
Elliptocytosis, Hereditary / genetics*
Exons / genetics
Female
Frameshift Mutation*
Genetic Association Studies
Heterozygote
Humans
Jaundice / etiology
Male
Middle Aged
Myelodysplastic Syndromes / blood
Myelodysplastic Syndromes / complications
Point Mutation*
Protein Conformation
Sickle Cell Trait / genetics
Spectrin / genetics*
beta-Globins / genetics*

Substances

beta-Globins
Spectrin

Supplementary concepts

Pyropoikilocytosis, Hereditary

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