Clinical and genetic diagnosis of two Turkish patients with hereditary spherocytosis.

Authors: Coşkun, Çağrı¹ cagri_730@hotmail.com

Source: European Research Journal. Jan2025, Vol. 11 Issue 1, p129-134. 7p.

Subject Terms: *HEREDITARY spherocytosis, *HEMOLYTIC anemia, *GALLSTONES, *DNA sequencing, *JAUNDICE

Naturopathic Management of Hereditary Spherocytosis: A Case Report.

Authors: Appukuttan, L. Lalitha Kumari¹ hima28918@gmail.com

Source: Alternative Therapies in Health & Medicine. Nov2024, Vol. 30 Issue 11, p50-53. 4p.

Subject Terms: *NATUROPATHY, *HEREDITARY spherocytosis, *CYTOSKELETAL proteins, *HEMOLYTIC anemia, *HEMOGLOBINS

Multigene Panel Testing Reveals Novel Variants in Hereditary Spherocytosis Patients in Türkiye

Authors: Ömer Doğru, Ceren Alavanda, Şenol Demir, Ahmet Koç, Pınar Ata

Source: Turkish Journal of Hematology, Vol 42, Iss 1, Pp 25-32 (2025)

Subject Terms: hereditary spherocytosis, next-generation sequencing, genotype-phenotype correlation, Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://www.tjh.com.tr/jvi.aspx?un=TJH-88714&volume=42&issue=1; https://doaj.org/toc/1308-5263

Access URL: https://doaj.org/article/16076ebcbf344e3888d1930b9553c87c

Comparison of classical and flowcytometric osmotic fragility and flowcytometric eosin-5-maleimide binding tests in diagnosis of hereditary spherocytosis

Authors: Gülüm Cemil, Eroğlu Pelin, Temel Gülhan, Tombak Anıl, Ünal Selma

Source: Türk Biyokimya Dergisi, Vol 50, Iss 1, Pp 52-61 (2025)

Subject Terms: hereditary spherocytosis, flow cytometry, flow cytometric osmotic fragility test, eosin-5-maleimide binding test, eosin-5-maleimide, osmotic fragility, Biochemistry, QD415-436

File Description: electronic resource

Relation: https://doaj.org/toc/1303-829X

Access URL: https://doaj.org/article/4ba390bc00ad48229670b289150dc005

Complications of delayed diagnosis and challenges: successfully managed SPTB gene variant hereditary spherocytosis with hepatocellular jaundice—a case report

Authors: Sintayehu Mekonnen, Dereje Adefris, Belete Shikuro, Abdi Bati, Daniel Azmeraw, Temesegen Kassa, Eliud Teshome, Hawi Farris

Source: Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-6 (2024)

Subject Terms: Jaundice, Hereditary spherocytosis, Cholelithiasis, Hepatosplenomegaly, Case report, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1752-1947

Access URL: https://doaj.org/article/11a2ce23ee0d4eeabf44f5c55fc3591a

Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients

Authors: Charuwan Panarach, Chaiwat Netsawang, Issarang Nuchprayoon, Kamonlak Leecharoenkiat

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)

Subject Terms: SPTB, ANK1, Hereditary spherocytosis, DNA sequencing, Mutation, NGS, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/152a4b0336124be784c5c5846c90fad4

Characterization of red blood cell microcirculatory parameters using a bioimpedance microfluidic device.

Authors: Xu, Tieying¹, Lizarralde-Iragorri, Maria A.^2,3,4, Roman, Jean¹, Ghasemi, Rasta⁵, Lefèvre, Jean-Pierre^6,7, Martincic, Emile⁸, Brousse, Valentine^2,3,4,9, Français, Olivier^1,10, El Nemer, Wassim^2,3,4, Le Pioufle, Bruno^1,11 bruno.le-pioufle@ens-paris-saclay.fr

Source: Scientific Reports. 6/17/2020, Vol. 10 Issue 1, p1-10. 10p.

Subject Terms: *ERYTHROCYTES, *HEREDITARY spherocytosis, *MICROCIRCULATION, *SICKLE cell anemia, *ELASTICITY

An overview of hereditary spherocytosis and the curative effects of splenectomy

Authors: Kyril Turpaev, Elizaveta Bovt, Soslan Shakhidzhanov, Elena Sinauridze, Nataliya Smetanina, Larisa Koleva, Nikita Kushnir, Anna Suvorova, Fazoil Ataullakhanov

Source: Frontiers in Physiology, Vol 16 (2025)

Subject Terms: hereditary spherocytosis, gene mutations, erythrocyte cytoskeleton, erythrocyte deformability, spherocytes, microcirculation, Physiology, QP1-981

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphys.2025.1497588/full; https://doaj.org/toc/1664-042X

Access URL: https://doaj.org/article/7ef1643f45dd41bc890e494fa4022aae

Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants

Authors: Jingying Cheng, Liqiang Zhang, Jiafeng Yao, Shasha Zhao, Jin Jiang

Source: Frontiers in Pediatrics, Vol 13 (2025)

Subject Terms: hereditary spherocytosis, red blood cell membrane protein, pathogenic variants, splenectomy, genetic testing, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2025.1523288/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/d1e8c9e11cd04e0bbfe5e4e07c342147

Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights

Authors: Xiaobing Li, Tingqiang Zhang, Xuemei Li, Li Wang, Qian Li, Qianqian Liu, Chengyin He, Li Zhang, Yongsheng Liu, Junling Tang

Source: Frontiers in Genetics, Vol 15 (2025)

Subject Terms: hereditary spherocytosis, novel SPTB gene, mutation, hemolytic anemia, splenomegaly, jaundice, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1522204/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/db9e818528f6424fa49d4a3c56e47301

Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China

Authors: Chongjun Wu, Zhongjin Xu, Qian Wan, Feng Chen, Yao Ye, Hong Wang

Source: Frontiers in Pediatrics, Vol 12 (2025)

Subject Terms: genetic screening strategy, children, hereditary spherocytosis, Jiangxi province, China, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1487121/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/f29615ee981949b5af8dad095406b1c8

A Case of Adult Hereditary Spherocytosis Concomitant with Gilbert Syndrome Caused by Mutations in SPTB and UGT1A1

Authors: Gou Y, Wang P, Yang W, Feng Y, Peng X, Liu H, Liu S, Zhang X

Source: Journal of Inflammation Research, Vol Volume 17, Pp 5977-5983 (2024)

Subject Terms: hereditary spherocytosis, gilbert syndrome, sptb, ugt1a1, Pathology, RB1-214, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.dovepress.com/a-case-of-adult-hereditary-spherocytosis-concomitant-with-gilbert-synd-peer-reviewed-fulltext-article-JIR; https://doaj.org/toc/1178-7031

Access URL: https://doaj.org/article/fe651e64de214f6ea4ac553a599ec7c1

Hereditary spherocytosis due to a novel variant, p.Q1034X, in the beta subunit of the spectrin gene: A case report

Authors: Emmalee M. Kugler, Akash Patel, Faraz Afridi, Maria I. Scarano, Rafat Ahmed

Source: Pediatric Hematology Oncology Journal, Vol 9, Iss 3, Pp 155-160 (2024)

Subject Terms: Hereditary spherocytosis, Spectrin beta chain, Temtamy preaxial brachydactyly syndrome, Whole genome sequencing, Case report, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2468124524000330; https://doaj.org/toc/2468-1245

Access URL: https://doaj.org/article/d1b15cdef9424a61b2332bd3e7eb4722

A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants

Authors: Yang Wang, Tao Liu, Chenxi Jia, Li Xiao, Wen Wang, Yongjie Zhang, Yan Xiang, Lan Huang, Jie Yu

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)

Subject Terms: Novel variant, Hereditary spherocytosis, SPTB gene, Minigene, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/dbd92c37573c4282b1644b061a78a105

Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis

Authors: Chongjun Wu, Yixin Yan, Ting Xiong, Wen Jiang, Jing Xu, Yanfei Rao, Jianyun Ao, Chun Xu, Xuehong Li, Longwang Qi, Wenhong Zheng, Wenjin Li, Zhongjin Xu, Yu Yang, Zhenjiang Li

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)

Subject Terms: Hereditary spherocytosis, ANK1, SPTB, Pediatric and adult, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/268464dae8084d1e84ef13ac9b5dd48f

Gallbladder preserving cholelithotomy in children with hereditary spherocytosis complicated by gallstones: a single-center retrospective study

Authors: Ran Tang, Cheng-xiao Zhou, Yong Yang, Jian Bian, Li-xiang Meng, De-cheng Wei, Shi-qin Qi

Source: Frontiers in Pediatrics, Vol 12 (2024)

Subject Terms: gallbladder-preserving cholelithotomy, pediatric, hereditary spherocytosis, surgery, choledochoscope, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1457927/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/ea9adfb3695f4a78966c854b05373d80

Correlation of Genetic Mutation With Outcomes in Children With Hereditary Spherocytosis Undergoing Partial Splenectomy: A Multicentre Study

Authors: Ramjist, Joshua K. ^{a, b, ⁎}, Dubljevic, Tamara ^{a, b}, Lapidus-Krol, Eveline ^a, Grace, Rachael F. ^c, Heeney, Matthew M. ^c, Oni, Morohuntodun O. ^c, Towerman, Alison ^d, Davidoff, Andrew ^e, Takemoto, Clifford ^e, Brown, Rebeccah L. ^f, Brungardt, Joseph ^f, Beaman, Makenzie ^g, Rice, Henry E. ^g, Nichols, Shari ^h, Saadai, Payam ^h, Carcao, Manuel ^{i, j}, Langer, Jacob C. ^{a, b}

Source: In Journal of Pediatric Surgery April 2025 60(4)

Hemolysis during open heart surgery in patients with hereditary spherocytosis — systematic review of the literature and case study

Authors: Konrad Mendrala, Tomasz Czober, Tomasz Darocha, Damian Hudziak, Paweł Podsiadło, Sylweriusz Kosiński, Bogusz Jagoda, Radosław Gocoł

Source: Perioperative Medicine, Vol 13, Iss 1, Pp 1-16 (2024)

Subject Terms: Hereditary spherocytosis, Hemolysis, Cardiac surgery, Cardiothoracic surgery, CPB, Surgery, RD1-811

File Description: electronic resource

Relation: https://doaj.org/toc/2047-0525

Access URL: https://doaj.org/article/05a3d5c7b6864449a5c482c29ee17be3

Coexistence of hereditary spherocytosis with SPTB P.Trp1150 gene variant and Gilbert syndrome: A case report and literature review

Authors: Chi Changwei, Wu Shenghao, Zhou Wenjin, Hu Yingying, Lu Yanwei, Weng Shanshan

Source: Open Life Sciences, Vol 19, Iss 1, Pp 166-9 (2024)

Subject Terms: hereditary spherocytosis, gilbert syndrome, jaundice, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/2391-5412

Access URL: https://doaj.org/article/a6883f3e88174ff48852a647ffad5369

Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis

Authors: Dżamila M. Bogusławska, Justyna Rybka, Paulina Koszela, Kazimierz Kuliczkowski, Aleksander F. Sikorski

Source: Biomedicines, Vol 13, Iss 2, p 308 (2025)

Subject Terms: hereditary spherocytosis, ankyrin-1, erythrocyte membrane protein, whole exome sequencing, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9059/13/2/308; https://doaj.org/toc/2227-9059

Access URL: https://doaj.org/article/fce64af4aad34083880d3da9006c0a28