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Haematology

  1. 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

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  2. 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

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  3. 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

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  4. 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

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  5. 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

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  6. 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

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  7. 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

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  8. 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

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  9. 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

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  10. 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

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  11. 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

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  12. 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

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  13. 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

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  14. 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

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  15. 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

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  16. 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

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  17. 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

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  18. 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

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  19. Acquired thrombotic thrombocytopenic Purpura (aTTP) is a life-threatening ultra-orphan disease with a reported annual incidence between 1.5 and 6.0 cases per million in Europe and mainly affecting otherwise yo...

    Authors: Wolfgang Miesbach, Jan Menne, Martin Bommer, Ulf Schönermarck, Thorsten Feldkamp, Martin Nitschke, Timm H. Westhoff, Felix S. Seibert, Rainer Woitas, Rui Sousa, Michael Wolf, Stefan Walzer and Björn Schwander

    Citation: Orphanet Journal of Rare Diseases 2019 14:260

    Content type: Research

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  20. Decision makers have huge problems when attempting to attribute social value to the improvements achieved by new drugs, especially when considering the use of orphan drugs for rare diseases. We present the res...

    Authors: Julio López-Bastida, Juan Manuel Ramos-Goñi, Isaac Aranda-Reneo, Domenica Taruscio, Armando Magrelli and Panos Kanavos

    Citation: Orphanet Journal of Rare Diseases 2019 14:154

    Content type: Research

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  21. Sickle cell disease (SCD) is an inherited red blood cell disorder caused by a structural abnormality of hemoglobin called sickle hemoglobin (HbS). Clinical manifestations of SCD are mainly characterized by chr...

    Authors: Giovanna Russo, Lucia De Franceschi, Raffaella Colombatti, Paolo Rigano, Silverio Perrotta, Vincenzo Voi, Giovanni Palazzi, Carmelo Fidone, Alessandra Quota, Giovanna Graziadei, Antonello Pietrangelo, Valeria Pinto, Giovan Battista Ruffo, Francesco Sorrentino, Donatella Venturelli, Maddalena Casale…

    Citation: Orphanet Journal of Rare Diseases 2019 14:120

    Content type: Review

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  22. Current diagnostic tests for hereditary spherocytosis (HS) focus on the detection of hemolysis or indirectly assessing defects of membrane protein, whereas direct methods to detect protein defects are complica...

    Authors: Hyoung Soo Choi, Qute Choi, Jung-Ah Kim, Kyong Ok Im, Si Nae Park, Yoomi Park, Hee Young Shin, Hyoung Jin Kang, Hoon Kook, Seon Young Kim, Soo-Jeong Kim, Inho Kim, Ji Yoon Kim, Hawk Kim, Kyung Duk Park, Kyung Bae Park…

    Citation: Orphanet Journal of Rare Diseases 2019 14:114

    Content type: Research

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  23. The objectives of this study were to delineate the clinical-epidemiological profile of patients with neuropathic pain (NP) in the groups of SCD patients, from each of the three questionnaires used DN-4, painDE...

    Authors: Fabricio Dias Antunes, Cidson Leonardo Silva Junior, Karine Santos Cerqueira, Maira do Livramento Faro and Rosana Cipolotti

    Citation: Orphanet Journal of Rare Diseases 2019 14:108

    Content type: Research

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  24. Hemophagocytic lymphohistiocytosis (HLH) is a rare severe clinical syndrome. HLH manifesting during pregnancy has been paid much attention in recent years. Despite the specificity of pregnancy-related HLH, the...

    Authors: Yue Song, Zhao Wang, Zengping Hao, Lihong Li, Junli Lu, Hongjun Kang, Yanping Lu, Yanqin You, Lijuan Li, Qingyun Chen and Bo Chen

    Citation: Orphanet Journal of Rare Diseases 2019 14:50

    Content type: Research

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  25. Little data is available on awareness of hemophilia carrier condition or associated bleeding risk and management in Sub-Saharan African countries. This study sought to identify hemophilia carriers in Côte d’Iv...

    Authors: Catherine Lambert, N’ Dogomo Meité, Ibrahima Sanogo, Sébastien Lobet, Eusèbe Adjambri, Stéphane Eeckhoudt and Cedric Hermans

    Citation: Orphanet Journal of Rare Diseases 2019 14:26

    Content type: Research

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  26. Erdheim–Chester disease (ECD) is a rare multi-systemic form of histiocytosis. Treatment with BRAF inhibitors has markedly improved outcomes of ECD; however, this targeted therapy is expensive (estimated annual...

    Authors: Xin-xin Cao, Na Niu, Jian Sun, Hao Cai, Feng-dan Wang, Yi-ning Wang, Ming-hui Duan, Dao-bin Zhou and Jian Li

    Citation: Orphanet Journal of Rare Diseases 2019 14:11

    Content type: Research

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  27. In spite of recent major advances in the understanding and treatment of inhibitor development in patients with haemophilia, multidisciplinary management of many of these patients remains suboptimal and highly ...

    Authors: P. L. F. Giangrande, C. Hermans, B. O’Mahony, P. de Kleijn, M. Bedford, A. Batorova, J. Blatný and K. Jansone

    Citation: Orphanet Journal of Rare Diseases 2018 13:66

    Content type: Position statement

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  28. Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, i...

    Authors: Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami and Derralynn Hughes

    Citation: Orphanet Journal of Rare Diseases 2017 12:150

    Content type: Research

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  29. Severe haemophilia is associated with major psychological and economic burden for patients, caregivers, and the wider health care system. This burden has been quantified and documented for a number of European...

    Authors: Jamie O’Hara, David Hughes, Charlotte Camp, Tom Burke, Liz Carroll and Daniel-Anibal Garcia Diego

    Citation: Orphanet Journal of Rare Diseases 2017 12:106

    Content type: Research

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  30. Thalassemias are emerging as a global public health concern. Due to remarkable success in the reduction of childhood mortality by controlling infectious diseases in developing countries, thalassemias are likel...

    Authors: Mohammad Sorowar Hossain, Enayetur Raheem, Tanvira Afroze Sultana, Shameema Ferdous, Nusrat Nahar, Sazia Islam, Mohammad Arifuzzaman, Mohammad Abdur Razzaque, Rabiul Alam, Sonia Aziz, Hazera Khatun, Abdur Rahim and Manzur Morshed

    Citation: Orphanet Journal of Rare Diseases 2017 12:93

    Content type: Review

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  31. Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) ...

    Authors: Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran and Tahir Sultan Shamsi

    Citation: Orphanet Journal of Rare Diseases 2017 12:66

    Content type: Research

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  32. Red cell distribution width (RDW), a classical parameter used in the differential diagnosis of anemia, has recently been recognized as a marker of chronic inflammation and high levels of oxidative stress (OS)....

    Authors: Rosa Sousa, Cristina Gonçalves, Isabel Couto Guerra, Emília Costa, Ana Fernandes, Maria do Bom Sucesso, Joana Azevedo, Alfredo Rodriguez, Rocio Rius, Carlos Seabra, Fátima Ferreira, Letícia Ribeiro, Anabela Ferrão, Sérgio Castedo, Esmeralda Cleto, Jorge Coutinho…

    Citation: Orphanet Journal of Rare Diseases 2016 11:102

    Content type: Research

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