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Haematology

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  1. Rosai–Dorfman disease (RDD) is a rare form of non-Langerhans cell histiocytic disease. The aim of this study was to review the characteristics of RDD using 18F-FDG PET/CT and determine its efficacy in the disease...

    Authors: Xinyu Lu, Rongxi Wang and Zhaohui Zhu
    Citation: Orphanet Journal of Rare Diseases 2023 18:116
  2. Hemophilia is an inherited bleeding disorder caused by deficiency of a specific coagulation factor. Factor VIII deficiency is responsible for hemophilia A while factor IX deficiency is responsible for hemophil...

    Authors: Chatphatai Moonla, Darintr Sosothikul, Bunchoo Pongtanakul, Bundarika Suwanawiboon, Chanchai Traivaree, Rungrote Natesirinilkul, Nongnuch Sirachainan and Pantep Angchaisuksiri
    Citation: Orphanet Journal of Rare Diseases 2023 18:110
  3. Platelet-type bleeding disorder 20 (BDPLT20), as known as SLFN14-related thrombocytopenia, is a rare inherited thrombocytopenia (IT). Previously, only 5 heterozygous missense mutations in the SLFN14 gene have bee...

    Authors: Dmitrii Polokhov, Daria Fedorova, Anastasiya Ignatova, Evgeniya Ponomarenko, Elena Rashevskaya, Alexey Martyanov, Nadezhda Podoplelova, Maxim Aleksenko, Irina Mersiyanova, Elena Seregina, Aleksandr Poletaev, Ekaterina Truchina, Elena Raykina, Svetlana Plyasunova, Galina Novichkova, Pavel Zharkov…
    Citation: Orphanet Journal of Rare Diseases 2023 18:74
  4. The Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) (©Blueprint Medicines Corporation), a 12-item daily diary that assesses 11 signs and symptoms of indolent systemic mastocytosis (ISM) and sm...

    Authors: Alan L. Shields, Fiona Taylor, Roger E. Lamoureux, Brad Padilla, Kas Severson, Tanya Green, Anthony L. Boral, Cem Akin, Frank Siebenhaar and Brenton Mar
    Citation: Orphanet Journal of Rare Diseases 2023 18:69
  5. Anaplastic lymphoma kinase (ALK)-positive histiocytosis, a novel rare histiocytic proliferation, was first described in 2008; it occurs in early infancy with liver and hematopoietic involvement. The spectrum w...

    Authors: Wei Liu, Hong-jie Liu, Wei-ya Wang, Yuan Tang, Sha Zhao, Wen-yan Zhang, Jia-qi Yan and Wei-ping Liu
    Citation: Orphanet Journal of Rare Diseases 2023 18:53
  6. Haemophilia A is a bleeding disorder caused by deficiency of coagulation factor VIII (FVIII) which leads to severe and repeated bleedings. There is a need to understand the optimal treatment pathway for FVIII ...

    Authors: George Morgan, Emily Back, Doug Rosa, Jamie O’Hara and Alan Finnegan
    Citation: Orphanet Journal of Rare Diseases 2023 18:47
  7. Subcutaneous panniculitis T-cell lymphoma (SPTCL) is a rare, cytotoxic T-cell lymphoma with which some patients have accompanying hemophagocytic syndrome (HPS). There is currently no standard treatment regimen...

    Authors: Yanlong Duan, Huixia Gao, Chunju Zhou, Ling Jin, Jing Yang, Shuang Huang, Meng Zhang, Yonghong Zhang and Tianyou Wang
    Citation: Orphanet Journal of Rare Diseases 2022 17:432
  8. Chronic active Epstein-Barr virus infection (CAEBV) is a rare but life-threatening progressive disease. Human leukocyte antigen (HLA)-haploidentical hematopoietic stem cell transplantation (haplo-HSCT) is the ...

    Authors: Rongmu Luo, Xiaomei Zhang, Ya Wang, Qihang Man, Wenjing Gu, Zhengqin Tian and Jingbo Wang
    Citation: Orphanet Journal of Rare Diseases 2022 17:422
  9. Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). Most patients present with anemia in infancy. Bone marrow cytology with vacuoliza...

    Authors: Ayami Yoshimi, Kaori Ishikawa, Charlotte Niemeyer and Sarah C. Grünert
    Citation: Orphanet Journal of Rare Diseases 2022 17:379
  10. Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome. However, establishing its molecular diagnosis remains challenging. Chromosomal breakage analysis is the gold standard diagnostic t...

    Authors: Anna Repczynska, Katarzyna Julga, Jolanta Skalska-Sadowska, Magdalena M. Kacprzak, Alicja Bartoszewska-Kubiak, Ewelina Lazarczyk, Damian Loska, Malgorzata Drozniewska, Kamila Czerska, Jacek Wachowiak and Olga Haus
    Citation: Orphanet Journal of Rare Diseases 2022 17:282
  11. Amyloid light-chain (AL) amyloidosis is an ultra-rare disease associated with significant morbidity and mortality. Few studies have examined the global epidemiology of this condition.

    Authors: Nishant Kumar, Nicole J. Zhang, Dasha Cherepanov, Dorothy Romanus, Michael Hughes and Douglas V. Faller
    Citation: Orphanet Journal of Rare Diseases 2022 17:278
  12. Langerhans cell histiocytosis (LCH) is a myeloid dendritic cell disorder frequently affecting children more than adults. The presentation of LCH varies with age, however, the clinical characteristics and genet...

    Authors: Hua-cong Cai, Jia Chen, Ting Liu, Hao Cai, Ming-hui Duan, Jian Li, Dao-bin Zhou and Xin-xin Cao
    Citation: Orphanet Journal of Rare Diseases 2022 17:268
  13. Hemophilia is one of the commonest inherited bleeding disorders which may lead to chronic bleeding tendencies and life-long disabilities if not properly managed. Knowing the pattern of the disease aids in the ...

    Authors: Mohammed Nadimul Islam, Akhil Ranjon Biswas, Humayra Nazneen, Nobendu Chowdhury, Mahbubul Alam, Jayanta Banik, Md. Kamrul Hassan, Abdullah Az Zubayer Khan, Najmul Karim, Mohammad Jahid Hasan and Md. Abdullah Saeed Khan
    Citation: Orphanet Journal of Rare Diseases 2022 17:254
  14. 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
  15. 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

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

  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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
  45. 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

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