Severe Nondominant Hereditary Spherocytosis Due to Uniparental Isodisomy at the SPTA1 Locus

Overview

Journal Haematologica

Specialty Hematology

Date 2014 Jun 5

PMID 24895341

Citations 6

Authors

Hannah Bogardus

Vincent P Schulz

Yelena Maksimova

Barbara A Miller

Peining Li

Bernard G Forget

Patrick G Gallagher

Affiliations

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Citing Articles

Exome-Based Trio Analysis for Diagnosis of the Cause of Congenital Severe Hemolytic Anemia in a Child.

Rieneck K, Lausen B, Clausen F, Jonson L, Hansen A, Dziegiel M Transfus Med Hemother. 2023; 49(5):320-325.

PMID: 37969868 PMC: 10642527. DOI: 10.1159/000523706.

A Novel SPTA1 Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome.

Nato Y, Kageyama Y, Suzuki K, Shimojima Yamamoto K, Kanno H, Miyashita H Intern Med. 2022; 62(1):107-111.

PMID: 35650129 PMC: 9876709. DOI: 10.2169/internalmedicine.9478-22.

Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias.

Russo R, Marra R, Rosato B, Iolascon A, Andolfo I Front Physiol. 2021; 11:613559.

PMID: 33414725 PMC: 7783452. DOI: 10.3389/fphys.2020.613559.

Corrigendum: The Spectrum of -Associated Hereditary Spherocytosis.

Chonat S, Risinger M, Sakthivel H, Niss O, Rothman J, Hsieh L Front Physiol. 2019; 10:1331.

PMID: 31736770 PMC: 6843059. DOI: 10.3389/fphys.2019.01331.

The Spectrum of -Associated Hereditary Spherocytosis.

Chonat S, Risinger M, Sakthivel H, Niss O, Rothman J, Hsieh L Front Physiol. 2019; 10:815.

PMID: 31333484 PMC: 6617536. DOI: 10.3389/fphys.2019.00815.

References

Indo Y, Mardy S, Miura Y, Moosa A, Ismail E, Toscano E . Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency. Hum Mutat. 2001; 18(4):308-18. DOI: 10.1002/humu.1192. View

Delaunay J, Nouyrigat V, Proust A, Schischmanoff P, Cynober T, Yvart J . Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans. Br J Haematol. 2004; 127(1):118-22. DOI: 10.1111/j.1365-2141.2004.05160.x. View

Eber S, Lux S . Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer. Semin Hematol. 2004; 41(2):118-41. DOI: 10.1053/j.seminhematol.2004.01.002. View

Swierczek S, Agarwal A, Naidoo K, Lorenzo F, Whisenant J, Nussenzveig R . Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects. Haematologica. 2013; 98(12):1972-9. PMC: 3856973. DOI: 10.3324/haematol.2013.086629. View

Wattanasirichaigoon D, Promsonthi P, Chuansumrit A, Leopairut J, Yanatatsaneejit P, Rattanatanyong P . Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart's hydrops fetalis. Clin Genet. 2008; 74(3):284-7. DOI: 10.1111/j.1399-0004.2008.01046.x. View

Bento C, Maia T, Milosevic J, Carreira I, Kralovics R, Ribeiro M . β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent. Haematologica. 2012; 98(1):e4-6. PMC: 3533667. DOI: 10.3324/haematol.2012.064097. View

Miraglia Del Giudice E, Nobili B, Francese M, DUrso L, Iolascon A, Eber S . Clinical and molecular evaluation of non-dominant hereditary spherocytosis. Br J Haematol. 2001; 112(1):42-7. DOI: 10.1046/j.1365-2141.2001.02501.x. View

Chang J, Tsai W, Chong I, Chang C, Lin C, Liu T . {beta}-thalassemia major evolution from {beta}-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15. Haematologica. 2008; 93(6):913-6. DOI: 10.3324/haematol.12195. View

Swensen J, Agarwal A, Esquilin J, Swierczek S, Perumbeti A, Hussey D . Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait. Blood. 2010; 116(15):2822-5. DOI: 10.1182/blood-2010-05-284331. View

10.

Engel E . A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet. 2006; 14(11):1158-69. DOI: 10.1038/sj.ejhg.5201619. View

11.

Perrotta S, Gallagher P, Mohandas N . Hereditary spherocytosis. Lancet. 2008; 372(9647):1411-26. DOI: 10.1016/S0140-6736(08)61588-3. View

12.

Harteveld C, Refaldi C, Giambona A, Ruivenkamp C, Hoffer M, Pijpe J . Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major. Haematologica. 2012; 98(5):691-5. PMC: 3640111. DOI: 10.3324/haematol.2012.065219. View

13.

Whitfield C, Follweiler J, Miller B . Deficiency of alpha-spectrin synthesis in burst-forming units-erythroid in lethal hereditary spherocytosis. Blood. 1991; 78(11):3043-51. View

14.

Kou K, Lee H, Lau B, Wong W, Kan A, Tang M . Two unusual cases of haemoglobin Bart's hydrops fetalis due to uniparental disomy or non-paternity. Fetal Diagn Ther. 2013; 35(4):306-8. DOI: 10.1159/000354808. View