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Select item 104962601.

Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia

Yu Jeong Choi, Hongkyung Kim, Won Kee Ahn, Seung-Tae Lee, Jung Woo Han, Jong Rak Choi, Chuhl Joo Lyu, Seungmin Hahn, Saeam Shin

BMC Med Genomics. 2023; 16: 215. Published online 2023 Sep 11. doi: 10.1186/s12920-023-01648-y

PMCID:: PMC10496260

Abstract Article PDF–1.1M

Select item 100123462.

Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study

Eleni A. Papadopoulos, Sarah C. Fisher, Meredith M. Howley, Marilyn L. Browne, National Birth Defects Prevention Study

Birth Defects Res. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: Birth Defects Res. 2022 May; 114(8): 295–303. Published online 2022 Mar 5. doi: 10.1002/bdr2.2000

PMCID:: PMC10012346

Abstract Article PDF–363K

Select item 99548783.

Five Years’ Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination

Namsu Kim, Tae Yun Kim, Ji Yoon Han, Joonhong Park

Diagnostics (Basel) 2023 Feb; 13(4): 770. Published online 2023 Feb 17. doi: 10.3390/diagnostics13040770

PMCID:: PMC9954878

Abstract Article PDF–957K

Select item 92428264.

Korean clinical practice guidelines for the diagnosis of hereditary hemolytic anemia

Hee Won Chueh, Sang Mee Hwang, Ye Jee Shim, Jae Min Lee, Hee Sue Park, Joon Hee Lee, Youngwon Nam, Namhee Kim, Hye Lim Jung, Hyoung Soo Choi, on behalf of Korean RBC Disorder Working Party

Blood Res. 2022 Jun 30; 57(2): 86–94. Published online 2022 Jun 30. doi: 10.5045/br.2022.2021224

PMCID:: PMC9242826

Abstract Article PDF–422K

Select item 82455455.

Combining microfluidics with machine learning algorithms for RBC classification in rare hereditary hemolytic anemia

Valeria Rizzuto, Arianna Mencattini, Begoña Álvarez-González, Davide Di Giuseppe, Eugenio Martinelli, David Beneitez-Pastor, Maria del Mar Mañú-Pereira, Maria José Lopez-Martinez, Josep Samitier

Sci Rep. 2021; 11: 13553. Published online 2021 Jun 30. doi: 10.1038/s41598-021-92747-2

PMCID:: PMC8245545

Abstract Article PDF–3.6M

Select item 81535236.

CMV, B and C hepatitis among multi-transfused hereditary hemolytic Anemia children: an updated Egyptian experience

Laila M. Sherief, Seham M. Ragab, Mohamed A. Helwa, Naglaa M. Kamal, Mona R. Afify, Rasha T. S. Mohammed, Ghada Abd Elmoniem Mokhtar, Hanan S. Sherbiny

Ital J Pediatr. 2021; 47: 117. Published online 2021 May 26. doi: 10.1186/s13052-021-01072-x

PMCID:: PMC8153523

Abstract Article PDF–1.1M

Select item 76957267.

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations

Hiromi Ogura, Shouichi Ohga, Takako Aoki, Taiju Utsugisawa, Hidehiro Takahashi, Asayuki Iwai, Kenichiro Watanabe, Yusuke Okuno, Kenichi Yoshida, Seishi Ogawa, Satoru Miyano, Seiji Kojima, Toshiyuki Yamamoto, Keiko Yamamoto-Shimojima, Hitoshi Kanno

Hum Genome Var. 2020; 7: 42. Published online 2020 Nov 27. doi: 10.1038/s41439-020-00130-w

PMCID:: PMC7695726

Abstract Article PDF–348K

Select item 74453068.

Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997–2016: a Nationwide Retrospective Cohort Study

Ye Jee Shim, Hye Lim Jung, Hee Young Shin, Hyoung Jin Kang, Jung Yoon Choi, Jeong Ok Hah, Jae Min Lee, Young Tak Lim, Eu Jeen Yang, Hee Jo Baek, Hyoung Soo Choi, Keon Hee Yoo, Jun Eun Park, Seongkoo Kim, Ji Yoon Kim, Eun Sil Park, Ho Joon Im, Hee Won Chueh, Soon Ki Kim, Jae Hee Lee, Eun Sun Yoo, Hyeon Jin Park, Jun Ah Lee, Meerim Park, Hyun Sik Kang, Ji Kyoung Park, Na Hee Lee, Sang Kyu Park, Young-Ho Lee, Seong Wook Lee, Eun Jin Choi, Seom Gim Kong, the Red Blood Cell Disorder Working Party of the Korean Society of Hematology

J Korean Med Sci. 2020 Aug 24; 35(33): e279. Published online 2020 Jul 27. doi: 10.3346/jkms.2020.35.e279

PMCID:: PMC7445306

Abstract Article PDF–1.5M

Select item 73483289.

溶血病因系统分析在遗传性溶血性贫血诊断和鉴别诊断中的应用

李津婴, 顾海慧, 郑素娟, 查占山, 花美仙, 蒋瑾瑾, 蔡斌, 周霖, 贾音, 方超平, 钱宝华

Zhonghua Xue Ye Xue Za Zhi. 2016 Jun; 37(6): 512–516. Chinese. doi: 10.3760/cma.j.issn.0253-2727.2016.06.014

PMCID:: PMC7348328

Abstract Article PDF–859K

Select item 734159110.

Exome sequencing for diagnosis of congenital hemolytic anemia

Lamisse Mansour-Hendili, Abdelrazak Aissat, Bouchra Badaoui, Mehdi Sakka, Christine Gameiro, Valérie Ortonne, Orianne Wagner-Ballon, Serge Pissard, Véronique Picard, Khaldoun Ghazal, Michel Bahuau, Corinne Guitton, Ziad Mansour, Mylène Duplan, Arnaud Petit, Nathalie Costedoat-Chalumeau, Marc Michel, Pablo Bartolucci, Stéphane Moutereau, Benoît Funalot, Frédéric Galactéros

Orphanet J Rare Dis. 2020; 15: 180. Published online 2020 Jul 8. doi: 10.1186/s13023-020-01425-5

PMCID:: PMC7341591

Abstract Article PDF–1.3M

Select item 718929711.

Interplay of erythropoietin, fibroblast growth factor 23, and erythroferrone in patients with hereditary hemolytic anemia

Annelies. J. van Vuren, Michele F. Eisenga, Stephanie van Straaten, Andreas Glenthøj, Carlo A. J. M. Gaillard, Stephan J. L. Bakker, Martin H. de Borst, Richard van Wijk, Eduard J. van Beers

Blood Adv. 2020 Apr 28; 4(8): 1678–1682. Published online 2020 Apr 23. doi: 10.1182/bloodadvances.2020001595

PMCID:: PMC7189297

Abstract Article PDF–716K

Select item 710941512.

Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure

Christopher M. Richmond, Sally Campbell, Hee W. Foo, Sebastian Lunke, Zornitza Stark, Amanda Moody, Elizabeth Bannister, Anthea Greenway, Natasha Brown

Mol Syndromol. 2020 Feb; 11(1): 50–55. Published online 2020 Feb 1. doi: 10.1159/000505886

PMCID:: PMC7109415

Abstract Article PDF–364K

Select item 706114113.

Addressing the Challenges to Diagnose Neonatal Hemolytic Anemia's Aetiologies in Low Ressources Countries: A Case Report

Lydie Ocini Ngolet, Josue Simo Louokdom, Nelly Guembo, Ocko Ngokaba Thibault

Case Rep Hematol. 2020; 2020: 3247127. Published online 2020 Feb 26. doi: 10.1155/2020/3247127

PMCID:: PMC7061141

Abstract Article PDF–310K

Select item 659720314.

Aberrant splicing contributes to severe α-spectrin–linked congenital hemolytic anemia

Patrick G. Gallagher, Yelena Maksimova, Kimberly Lezon-Geyda, Peter E. Newburger, Desiree Medeiros, Robin D. Hanson, Jennifer Rothman, Sara Israels, Donna A. Wall, Robert F. Sidonio, Jr., Colin Sieff, L. Kate Gowans, Nupur Mittal, Roland Rivera-Santiago, David W. Speicher, Susan J. Baserga, Vincent P. Schulz

J Clin Invest. 2019 Jul 1; 129(7): 2878–2887. Published online 2019 Jun 4. doi: 10.1172/JCI127195

PMCID:: PMC6597203

Abstract Article PDF–1.7M

Select item 584955015.

Importance of the Average Glucose Level and Estimated Glycated Hemoglobin in a Diabetic Patient with Hereditary Hemolytic Anemia and Liver Cirrhosis

Rieko Nakatani, Takashi Murata, Takeshi Usui, Koki Moriyoshi, Toshiki Komeda, Yuichi Masuda, Maiko Kakita-Kobayashi, Tetsuya Tagami, Shinsaku Imashuku, Shigeo Kono, Kazunori Yamada, Akira Shimatsu

Intern Med. 2018 Feb 15; 57(4): 537–543. Published online 2017 Dec 8. doi: 10.2169/internalmedicine.9135-17

PMCID:: PMC5849550

Abstract Article PDF–956K

Select item 559648516.

Neonatal hemolytic anemia does not always indicate thalassemia: a case report

Arwa A. Al-Harazi, Bilguis M. Al-Eryani, Butheinah A. Al-Sharafi

BMC Res Notes. 2017; 10: 476. Published online 2017 Sep 12. doi: 10.1186/s13104-017-2803-6

PMCID:: PMC5596485

Abstract Article PDF–1.0M

Select item 508306817.

Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia

Brian R. Englum, Jennifer Rothman, Sarah Leonard, Audra Reiter, Courtney Thornburg, Mary Brindle, Nicola Wright, Matthew M. Heeney, C. Jason Smithers, Rebeccah L. Brown, Theodosia Kalfa, Jacob C. Langer, Michaela Cada, Keith T. Oldham, J. Paul Scott, Shawn D St Peter, Mukta Sharma, Andrew M. Davidoff, Kerri Nottage, Kathryn Bernabe, David B. Wilson, Sanjeev Dutta, Bertil Glader, Shelley E. Crary, Melvin S. Dassinger, Levette Dunbar, Saleem Islam, Manjusha Kumar, Fred Rescorla, Steve Bruch, Andrew Campbell, Mary Austin, Robert Sidonio, Martin L. Blakely, Henry E. Rice

J Pediatr Surg. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: J Pediatr Surg. 2016 Jan; 51(1): 122–127. Published online 2015 Oct 23. doi: 10.1016/j.jpedsurg.2015.10.028

PMCID:: PMC5083068

Abstract Article PDF–686K

Select item 500436818.

ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia

Nobuto Arashiki, Yuichi Takakuwa, Narla Mohandas, John Hale, Kenichi Yoshida, Hiromi Ogura, Taiju Utsugisawa, Shouichi Ohga, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Hitoshi Kanno

Haematologica. 2016 May; 101(5): 559–565. doi: 10.3324/haematol.2016.142273

PMCID:: PMC5004368

Abstract Article PDF–1.0M

Select item 433306119.

Clinical Outcomes of Splenectomy in Children: Report of the Splenectomy in Congenital Hemolytic Anemia (SICHA) Registry

Henry E Rice, Brian R Englum, Jennifer Rothman, Sarah Leonard, Audra Reiter, Courtney Thornburg, Mary Brindle, Nicola Wright, Matthew M Heeney, Charles Smithers, Rebeccah L Brown, Theodosia Kalfa, Jacob C Langer, Michaela Cada, Keith T Oldham, J Paul Scott, Shawn St. Peter, Mukta Sharma, Andrew M. Davidoff, Kerri Nottage, Kathryn Bernabe, David B Wilson, Sanjeev Dutta, Bertil Glader, Shelley E Crary, Melvin S Dassinger, Levette Dunbar, Saleem Islam, Manjusha Kumar, Fred Rescorla, Steve Bruch, Andrew Campbell, Mary Austin, Robert Sidonio, Martin L Blakely, the Splenectomy in Congenital Hemolytic Anemia (SICHA) Consortium

Am J Hematol. Author manuscript; available in PMC 2016 Mar 1.

Published in final edited form as: Am J Hematol. 2015 Mar; 90(3): 187–192. Published online 2014 Nov 24. doi: 10.1002/ajh.23888

PMCID:: PMC4333061

Abstract Article PDF–1.0M

Select item 386211320.

Red blood cell vesiculation in hereditary hemolytic anemia

Amr Alaarg, Raymond M. Schiffelers, Wouter W. van Solinge, Richard van Wijk

Front Physiol. 2013; 4: 365. Prepublished online 2013 Nov 15. Published online 2013 Dec 13. doi: 10.3389/fphys.2013.00365

PMCID:: PMC3862113

Abstract Article PDF–725K

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