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Haematology

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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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