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Haematology

  1. Content type: Research

    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

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  2. Content type: Position statement

    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

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  3. Content type: Research

    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

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  4. Content type: Research

    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

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  5. Content type: Review

    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

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  6. Content type: Research

    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

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  7. Content type: Research

    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

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172