A Novel <i>SPTA1</i> Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome
Author:
Affiliation:
1. Department of Hematology, Yokkaichi Municipal Hospital, Japan
2. Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Japan
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
https://www.jstage.jst.go.jp/article/internalmedicine/62/1/62_9478-22/_pdf
Reference12 articles.
1. 1. Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ. Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update. Br J Haematol 156: 37-49, 2012.
2. 2. Otsuka A, Sugihara T, Yawata Y. No beneficial effect of splenectomy in hereditary high red cell membrane phosphatidylcholine hemolytic anemia: clinical and membrane studies of 20 patients. Am J Hematol 34: 8-14, 1990.
3. 3. Agarwal AM, Nussenzveig RH, Reading NS, et al. Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias. Br J Haematol 174: 806-814, 2016.
4. 4. Ittiwut C, Natesirinilkul R, Tongprasert F, et al. Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia. Br J Haematol 185: 578-582, 2019.
5. 5. Bogardus H, Schulz VP, Maksimova Y, et al. Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus. Haematologica 99: e168-e170, 2014.
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1. A Case of Adult Hereditary Spherocytosis Concomitant with Gilbert Syndrome Caused by Mutations in SPTB and UGT1A1;Journal of Inflammation Research;2024-09
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