Skip to main content

Haematology

Page 1 of 2

  1. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder. How to stratify high risk patients is one of the current challenges for the treatment of HLH. HLH patients usually fulfill multiple but ...

    Authors: Xun Li, Haipeng Yan, Ting Luo, Zhenghui Xiao, Ling Gong, Jiaotian Huang, Xinping Zhang, Mincui Zheng, Zhenya Yao, Ping Zang, Desheng Zhu and Xiulan Lu
    Citation: Orphanet Journal of Rare Diseases 2022 17:161
    Content type: Research Published on:

  2. Gene therapy has the potential to change the life experience of people with haemophilia and family members. Few studies have sought to explore the impact of gene therapy on both individuals and families. The a...

    Authors: Simon Fletcher, Kathryn Jenner, Luke Pembroke, Michael Holland and Kate Khair
    Citation: Orphanet Journal of Rare Diseases 2022 17:155
    Content type: Research Published on:

    The Editorial to this article has been published in Orphanet Journal of Rare Diseases 2022 17:154

  4. Langerhans cell histiocytosis (LCH) is a rare myeloid neoplasm. A few LCH patients had Macrophage activation syndrome-hemophagocytic lymphohistiocytosis (MAS-HLH), a life-threatening, hyper-inflammatory syndro...

    Authors: Dong Wang, Xi-Hua Chen, Ang Wei, Chun-Ju Zhou, Xue Zhang, Hong-Hao Ma, Hong-Yun Lian, Li Zhang, Qing Zhang, Xiao-Tong Huang, Chan-Juan Wang, Ying Yang, Wei Liu, Tian-You Wang, Zhi-Gang Li, Lei Cui…
    Citation: Orphanet Journal of Rare Diseases 2022 17:151
    Content type: Research Published on:

  5. Haemophilia bears substantial humanistic and economic burden on children and their caregivers. Characterising the differential impact of severe versus moderate paediatric haemophilia is important for clinical ...

    Authors: Idaira Rodriguez-Santana, Pronabesh DasMahapatra, Tom Burke, Zalmai Hakimi, José Bartelt-Hofer, Jameel Nazir and Jamie O’Hara
    Citation: Orphanet Journal of Rare Diseases 2022 17:150
    Content type: Research Published on:

  6. The lifelong nature of haemophilia makes patient-centred and societal assessments of its impact important to clinical and policy decisions. Quantifying the humanistic and economic burden by severity is key to ...

    Authors: Idaira Rodriguez-Santana, Pronabesh DasMahapatra, Tom Burke, Zalmai Hakimi, José Bartelt-Hofer, Jameel Nazir and Jamie O’Hara
    Citation: Orphanet Journal of Rare Diseases 2022 17:148
    Content type: Research Published on:

  7. To evaluate whether the quantification of fetal hemoglobin (Hb) Bart’s is useful for differentiation of α-thalassemia syndromes in the fetus and to characterize the fetal anemia associated with fetal α-hemoglo...

    Authors: Kritsada Singha, Supawadee Yamsri, Attawut Chaibunruang, Hataichanok Srivorakun, Kanokwan Sanchaisuriya, Goonnapa Fucharoen and Supan Fucharoen
    Citation: Orphanet Journal of Rare Diseases 2022 17:45
    Content type: Research Published on:

  8. Non-Langerhans cell histiocytosis, including Erdheim–Chester disease (ECD), Rosai–Dorfman disease (RDD), indeterminate cell histiocytosis (ICH), and unclassified histiocytosis, is a rare disorder lacking a sta...

    Authors: Ting Liu, Hua-cong Cai, Hao Cai, Miao Chen, Wei Zhang, Jian Li, Dao-bin Zhou and Xin-xin Cao
    Citation: Orphanet Journal of Rare Diseases 2022 17:39
    Content type: Research Published on:

  9. Real-world studies of the burden of severe haemophilia B in the context of recent therapeutic advances such as extended half-life (EHL) factor IX (FIX) products are limited. We analysed data from the recent CH...

    Authors: Tom Burke, Sohaib Asghar, Jamie O’Hara, Margaret Chuang, Eileen K. Sawyer and Nanxin Li
    Citation: Orphanet Journal of Rare Diseases 2021 16:521
    Content type: Research Published on:

  10. Extranodal NK/T-cell lymphoma of the breast (ENKTL-Breast) is rarely detected in clinical practice, and its clinicopathological features remain unclear.

    Authors: Wei Liu, Zihang Chen, Fanglan Li, Wenyan Zhang, Weiping Liu and Sha Zhao
    Citation: Orphanet Journal of Rare Diseases 2021 16:479
    Content type: Research Published on:

  11. Sickle cell disease (SCD) is a collection of rare inherited blood disorders affecting approximately 100,000 people in the U.S. and 20–25 million people globally. Individuals with SCD experience recurrent episo...

    Authors: Ahmar U. Zaidi, Alexander K. Glaros, Soyon Lee, Taiji Wang, Rhea Bhojwani, Eric Morris, Breanne Donohue, Jincy Paulose, Şerban R. Iorga and Dave Nellesen
    Citation: Orphanet Journal of Rare Diseases 2021 16:460
    Content type: Research Published on:

  12. Indolent systemic mastocytosis (ISM) is a rare, clonal mast cell neoplasm characterized by severe, unpredictable symptoms. The Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) items compose a T...

    Authors: Brad Padilla, Alan L. Shields, Fiona Taylor, Xiaoran Li, Jeffrey Mcdonald, Tanya Green, Anthony L. Boral, Hui-Min Lin, Cem Akin, Frank Siebenhaar and Brenton Mar
    Citation: Orphanet Journal of Rare Diseases 2021 16:434
    Content type: Research Published on:

  13. Congenital hemolytic anemias (CHAs) comprise defects of the erythrocyte membrane proteins and of red blood cell enzymes metabolism, along with alterations of erythropoiesis. These rare and heterogeneous condit...

    Authors: Bruno Fattizzo, Juri Alessandro Giannotta, Nicola Cecchi and Wilma Barcellini
    Citation: Orphanet Journal of Rare Diseases 2021 16:415
    Content type: Review Published on:

  14. Advanced systemic mastocytosis (AdvSM), indolent systemic mastocytosis (ISM), and smoldering systemic mastocytosis (SSM) are rare diseases characterized by neoplastic mast cell infiltration of more than one or...

    Authors: Fiona Taylor, Cem Akin, Roger E. Lamoureux, Brad Padilla, Tanya Green, Anthony L. Boral, Iyar Mazar, Brenton Mar, Alan L. Shields and Frank Siebenhaar
    Citation: Orphanet Journal of Rare Diseases 2021 16:414
    Content type: Research Published on:

  15. Telomere biology disorders (TBD) such as dyskeratosis congenita (DKC) lead to progressive multi-organ failure as impaired telomere maintenance disturbs cellular proliferative capacity. A wide range of hepatic ...

    Authors: Mareike Tometten, Martin Kirschner, Susanne Isfort, Marie-Luise Berres, Tim H. Brümmendorf and Fabian Beier
    Citation: Orphanet Journal of Rare Diseases 2021 16:395
    Content type: Research Published on:

  16. Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and life-threatening intravascular hematologic disorder with significant morbidity and premature mortality. Clinical trials (NCT02946463 and NCT03056040) com...

    Authors: Carolyn E. Schwartz, Roland B. Stark, Katrina Borowiec, Sandra Nolte and Karl-Johan Myren
    Citation: Orphanet Journal of Rare Diseases 2021 16:389
    Content type: Research Published on:

  17. Interleukin-10 (IL-10) is an independent factor for predicting adverse outcomes in pediatric patients with hemophagocytic lymphohistiocytosis (HLH). However, little is known about its prognostic value in adult...

    Authors: Yulan Zhou, Fancong Kong, Shixuan Wang, Min Yu, Yawen Xu, Jing Kang, Songtao Tu and Fei Li
    Citation: Orphanet Journal of Rare Diseases 2021 16:347
    Content type: Research Published on:

  18. Currently, most research on hemophagocytic lymphohistiocytosis (HLH) have focused on etiology and therapy, leaving few epidemiological reports. The published studies of China are mainly regional investigations...

    Authors: Shuyan Yao, Yini Wang, Yuan Sun, Li Liu, Rui Zhang, Jianpei Fang, Runming Jin, Jie Yu, Fei Li, Jie Bai, Yun Zeng, Cheng Zhang, Huo Tan, Fan Zhou, Yan Chen, Qiaohua Zhang…
    Citation: Orphanet Journal of Rare Diseases 2021 16:342
    Content type: Research Published on:

  19. Thalassaemia, a hereditary haemoglobin disorder, is a major public health concern in some parts of the world. Although Bangladesh is in the world’s thalassaemia belt, the information on this disease is scarce....

    Authors: Mohammad Sorowar Hossain, Md. Mahbub Hasan, Mary Petrou, Paul Telfer and Abdullah Al Mosabbir
    Citation: Orphanet Journal of Rare Diseases 2021 16:315
    Content type: Research Published on:

  20. Hemophagocytic lymphohistiocytosis during pregnancy is rare; it is often misdiagnosed, resulting in a high maternal and foetal mortality rate. Herein, based on limited case reports including antepartum and pos...

    Authors: Lidong Liu, Yutong Cui, Qiongjie Zhou, Huanqiang Zhao and Xiaotian Li
    Citation: Orphanet Journal of Rare Diseases 2021 16:281
    Content type: Review Published on:

  21. Transfusion-dependent thalassaemia (TDT) is a hereditary blood disorder in which blood transfusion is the mainstay treatment to prolong survival and improve quality of life. Patients with this disease require ...

    Authors: Asrul Akmal Shafie, Jacqueline Hui Yi Wong, Hishamshah Mohd Ibrahim, Noor Syahireen Mohammed and Irwinder Kaur Chhabra
    Citation: Orphanet Journal of Rare Diseases 2021 16:157
    Content type: Research Published on:

  22. Hydroxyurea and blood transfusion therapies remain the main therapeutic strategies for Sickle cell disease. Preliminary data suggest substantial variation and inconsistencies in practice of these two therapeut...

    Authors: Thamal Darshana, David Rees and Anuja Premawardhena
    Citation: Orphanet Journal of Rare Diseases 2021 16:148
    Content type: Review Published on:

  23. Hemophilia B is a rare congenital bleeding disorder that has a significant negative impact on patients’ functionality and health-related quality of life. The standard of care for severe hemophilia B in the Uni...

    Authors: Tom Burke, Sohaib Asghar, Jamie O’Hara, Eileen K. Sawyer and Nanxin Li
    Citation: Orphanet Journal of Rare Diseases 2021 16:143
    Content type: Research Published on:

  24. Hydroxyurea is one of the earliest drugs that showed promise in the management of haemoglobinopathies that include β-thalassaemia and sickle cell disease. Despite this, many aspects of hydroxyurea are either u...

    Authors: Nirmani Yasara, Anuja Premawardhena and Sachith Mettananda
    Citation: Orphanet Journal of Rare Diseases 2021 16:114
    Content type: Review Published on:

  25. To investigate the clinical characteristics, treatment, prognosis and risk factors for chronic active Epstein–Barr Virus infection (CAEBV) associated with coronary artery dilatation (CAD) in children.

    Authors: Ang Wei, Honghao Ma, Liping Zhang, Zhigang Li, Yitong Guan, Qing Zhang, Dong Wang, Hongyun Lian, Rui Zhang and Tianyou Wang
    Citation: Orphanet Journal of Rare Diseases 2021 16:50
    Content type: Research Published on:

  26. Untreated hemophilia A patients may experience recurrent bleeding events leading to debilitating joint damages. While RCT and pharmacokinetic data support the value of Kovaltry [an unmodified full-length recom...

    Authors: Jamie O’Hara, Ceri Hirst, Jose Francisco Cabre Marquez and Tom Burke
    Citation: Orphanet Journal of Rare Diseases 2021 16:33
    Content type: Letter to the Editor Published on:

  27. In adult patients with secondary hemophagocytic lymphohistiocytosis (sHLH), no valid immune biomarker has been available for predicting the prognosis of untreated sHLH patients.

    Authors: Guangli Yin, Changfeng Man, Jiayu Huang, Shengen Liao, Xin Gao, Tian Tian, Limin Duan, Ji Xu and Hongxia Qiu
    Citation: Orphanet Journal of Rare Diseases 2020 15:332
    Content type: Research Published on:

  29. South Asia is the hotspot of beta-thalassemia, with an estimated 200,000 patients whose lives depend on regular blood transfusion. Due to COVID-19 pandemic, many countries have adopted unprecedented lockdown t...

    Authors: Mohammad Sorowar Hossain, Enayetur Raheem and Mahbubul H. Siddiqee
    Citation: Orphanet Journal of Rare Diseases 2020 15:265
    Content type: Letter to the Editor Published on:

  30. The introduction of new therapy modalities has significantly improved the outcome of aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) patients. However, relatively little is known about the e...

    Authors: Kimmo Weisshaar, Hannah Ewald, Jörg Halter, Sabine Gerull, Sandra Schönfeld, Yuliya Senft, Maria Martinez, Anne Leuppi-Taegtmeyer, Nina Khanna, Birgit Maier, Antonio Risitano, Regis Peffault de Latour, Andre Tichelli, Jakob Passweg and Beatrice Drexler
    Citation: Orphanet Journal of Rare Diseases 2020 15:249
    Content type: Research Published on:

  31. Erdheim-Chester Disease (ECD) is a rare type of non-Langerhans histiocytosis. Skeletal structures are affected in over 95% ECD patients. Due to the lack of proper imaging assessment tools, the alteration of bo...

    Authors: Tianhua He, Lijia Cui, Na Niu, Fengdan Wang, Huilei Miao, Hao Zhao, Xuemin Gao, Chang Liu, Fan Yu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Daobin Zhou, Jian Li, Xinxin Cao…
    Citation: Orphanet Journal of Rare Diseases 2020 15:236
    Content type: Research Published on:

  32. Hemophagocytic lymphohistiocytosis (HLH) is a relatively rare and life-threatening disorder. Early mortality remains significantly high among patients with HLH. Our aim was to investigate clinical features and...

    Authors: Xun Li, Haipeng Yan, Xinping Zhang, Jiaotian Huang, Shi-Ting Xiang, Zhenya Yao, Ping Zang, Desheng Zhu, Zhenghui Xiao and Xiulan Lu
    Citation: Orphanet Journal of Rare Diseases 2020 15:229
    Content type: Research Published on:

  33. Thrombotic thrombocytopenic purpura (TTP) is associated with more deleterious outcomes in patients with systemic lupus erythematosus (SLE). However, ADAMTS13 (a disintegrin and metalloproteinase with a thrombo...

    Authors: Cai Yue, Jian Su, Xiaohong Fan, Li Song, Wei Jiang, Jinghua Xia, Tao Shi, Xuan Zhang and Xuemei Li
    Citation: Orphanet Journal of Rare Diseases 2020 15:225
    Content type: Research Published on:

  34. Hereditary angioedema (HAE) is a rare genetic disease and characterized by clinical features such as paroxysmal, recurrent angioedema of the skin, the gastrointestinal tract, and the upper airways. Swelling of...

    Authors: Markus Magerl, Holger Gothe, Simon Krupka, Anja Lachmann and Christoph Ohlmeier
    Citation: Orphanet Journal of Rare Diseases 2020 15:221
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:97

  38. Hereditary Hemorrhagic Telangiectasia (HHT) is a rare inherited disorder characterized by development of mucocutaneous telangiectases and visceral organ arteriovenous malformations, which can lead to recurrent...

    Authors: Joan D. Beckman, Quefeng Li, Samuel T. Hester, Ofri Leitner, Karen L. Smith and Raj S. Kasthuri
    Citation: Orphanet Journal of Rare Diseases 2020 15:185
    Content type: Research Published on:

  39. Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being us...

    Authors: 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…
    Citation: Orphanet Journal of Rare Diseases 2020 15:180
    Content type: Research Published on:

  40. Sickle cell disease (SCD) is an autosomal recessive blood disorder affecting approximately 100,000 Americans and 3.1 million people globally. The scarcity of relevant knowledge and experience with rare disease...

    Authors: Jeffrey A. Glassberg, Elizabeth A. Linton, Katrina Burson, Tabitha Hendershot, Joseph Telfair, Julie Kanter, Victor R. Gordeuk, Allison A. King, Cathy L. Melvin, Nirmish Shah, Jane S. Hankins, Axel Yannick Epié and Lynne D. Richardson
    Citation: Orphanet Journal of Rare Diseases 2020 15:178
    Content type: Research Published on:

  41. Though case reports and limited case series of Sickle cell disease in Sri Lanka have been reported previously, no attempt has been made hitherto to undertake a comprehensive genotypic-phenotypic analysis of th...

    Authors: Thamal Darshana, Dayananda Bandara, Upul Nawarathne, Udaya de Silva, Yasinta Costa, Kalavitigoda Pushpakumara, Sumithra Pathirage, Seuwandi Basnayake, Chamila Epa, Pradeepa Dilrukshi, Maheshaka Wijayawardena, Angela A. Anthony, Rexan Rodrigo, Aresha Manamperi, Frances Smith, Angela Allen…
    Citation: Orphanet Journal of Rare Diseases 2020 15:177
    Content type: Research Published on:

  42. Defective synthesis of the α-globin chain due to mutations in the alpha-globin genes and/or its regulatory elements leads to alpha thalassaemia syndrome. Complete deletion of the 4 alpha-globin genes results i...

    Authors: Ibrahim Kalle Kwaifa, Mei I. Lai and Sabariah Md Noor
    Citation: Orphanet Journal of Rare Diseases 2020 15:166
    Content type: Review Published on:

  43. Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes (POEMS) syndrome is a rare paraneoplastic syndrome involving multisystem. Optic disc edema (ODE) is the most common ocular m...

    Authors: Ling-shan Liu, Xiao Zhang, Hao Zhao, Xue-min Gao, Dao-bin Zhou, Rong-ping Dai and Jian Li
    Citation: Orphanet Journal of Rare Diseases 2020 15:116
    Content type: Research Published on:

  44. Primary hemophagocytic lymphohistiocytosis (pHLH) is a genetic disorder that is classically diagnosed by genetic testing. Secondary HLH (sHLH) is usually caused by infections, malignancies, or autoimmune disor...

    Authors: Jia Zhang, Yuan Sun, Xiaodong Shi, Rui Zhang, Yini Wang, Juan Xiao, Jing Cao, Zhuo Gao, Jingshi Wang, Lin Wu, Wei Wei and Zhao Wang
    Citation: Orphanet Journal of Rare Diseases 2020 15:112
    Content type: Research Published on:

  45. Hemophagocytic Lymphohistiocytosis (HLH) is a rare clinical syndrome with high mortality rate. The diagnosis of HLH draws on a constellation of clinical and laboratory abnormalities including extremely high se...

    Authors: Jun Zhou, Jing Zhou, Dan-Ting Shen, Hemant Goyal, Zhi-Qi Wu and Hua-Guo Xu
    Citation: Orphanet Journal of Rare Diseases 2020 15:71
    Content type: Research Published on:

  46. Thalassaemia is a potentially life-threatening yet preventable inherited hemoglobin disorder. Understanding local socio-cultural context and level of public awareness about thalassaemia is pivotal for selectin...

    Authors: Mohammad Sorowar Hossain, Md. Mahbub Hasan, Enayetur Raheem, Muhammad Sougatul Islam, Abdullah Al Mosabbir, Mary Petrou, Paul Telfer and Mahbubul H. Siddiqee
    Citation: Orphanet Journal of Rare Diseases 2020 15:54
    Content type: Research Published on:

  47. Purine nucleoside analogs (PNAs) are the recommended first-line treatment for patients with hairy cell leukemia (HCL), but they are associated with adverse events (AEs). Due to a lack of real-world evidence re...

    Authors: Narendranath Epperla, Melissa Pavilack, Temitope Olufade, Richa Bashyal, Jieni Li, Shaum M. Kabadi, Huseyin Yuce and Leslie Andritsos
    Citation: Orphanet Journal of Rare Diseases 2020 15:47
    Content type: Research Published on:

  48. To compare the similarity of the non-patented T2* and the high cost patented R2 (Ferriscan®) MRI techniques in the measurement of liver iron concentration (LIC) in heavily transfused patients with thalassaemia...

    Authors: Padmapani Padeniya, Shirom Siriwardana, Dileepa Ediriweera, Nayana Samarasinghe, Sasanka Silva, Ishari Silva, Nizri Ahamed, Madunil Niriella and Anuja Premawardhena
    Citation: Orphanet Journal of Rare Diseases 2020 15:26
    Content type: Letter to the Editor Published on:

  49. No information is currently available regarding the natural history of asymptomatic intracranial aneurysms in beta-thalassemia, raising several concerns about their proper management.

    Authors: Renzo Manara, Martina Caiazza, Rosanna Di Concilio, Angela Ciancio, Elisa De Michele, Caterina Maietta, Daniela Capalbo, Camilla Russo, Domenico Roberti, Maddalena Casale, Andrea Elefante, Fabrizio Esposito, Sara Ponticorvo, Andrea Gerardo Russo, Antonietta Canna, Mario Cirillo…
    Citation: Orphanet Journal of Rare Diseases 2020 15:21
    Content type: Research Published on:

  50. ß-thalassemia is one of the most common inherited blood disorders in the world and a major deterrent to the public health of Bangladesh. The management of thalassemia patients requires lifelong frequent blood ...

    Authors: Farjana Akther Noor, Nusrat Sultana, Golam Sarower Bhuyan, Md Tarikul Islam, Mohabbat Hossain, Suprovath Kumar Sarker, Khaleda Islam, Waqar Ahmed Khan, Mujahida Rahman, Syeda Kashfi Qadri, Hossain Uddin Shekhar, Firdausi Qadri, Syed Saleheen Qadri and Kaiissar Mannoor
    Citation: Orphanet Journal of Rare Diseases 2020 15:15
    Content type: Research Published on:

Orphanet Journal of Rare Diseases

ISSN: 1750-1172