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1
Mild and Moderate Hemophilia A: Neglected Conditions, Still with Unmet Needs.轻度和中度甲型血友病：被忽视的病症，需求仍未得到满足。
J Clin Med. 2023 Feb 8;12(4):1368. doi: 10.3390/jcm12041368.
2
Factor VIII inhibitor development in Egyptian hemophilia patients: does intron 22 inversion mutation play a role?埃及血友病患者凝血因子 VIII 抑制剂的发展：内含子 22 倒位突变是否起作用？
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Congenital hemophilia A with low activity of factor XII: a case report and literature review.先天性因子 XII 活性低下型血友病 A: 1 例报告并文献复习。
Ital J Pediatr. 2021 Oct 11;47(1):204. doi: 10.1186/s13052-021-01137-x.
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Many factor VIII products available in the treatment of hemophilia A: an embarrassment of riches?治疗甲型血友病有多种凝血因子VIII产品可供选择：产品过多是好事还是坏事？
J Blood Med. 2017 Jun 15;8:67-73. doi: 10.2147/JBM.S103796. eCollection 2017.
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Chromogenic Factor VIII Assays for Improved Diagnosis of Hemophilia A.用于改善甲型血友病诊断的显色性凝血因子 VIII 检测
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Applicability of the Thrombin Generation Test to Evaluate the Hemostatic Status of Hemophilia A Patients in Daily Clinical Practice.凝血酶生成试验在日常临床实践中评估甲型血友病患者止血状态的适用性。
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Comparisons of global coagulation potential and bleeding episodes in emicizumab-treated hemophilia A patients and mild hemophilia A patients.比较依库珠单抗治疗的 A 型血友病患者和轻度 A 型血友病患者的整体凝血潜能和出血发作情况。
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The mesenchymal stem cells derived from transgenic mice carrying human coagulation factor VIII can correct phenotype in hemophilia A mice.携带人凝血因子 VIII 的转基因小鼠来源的间充质干细胞可纠正血友病 A 小鼠的表型。
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Current and emerging factor VIII replacement products for hemophilia A.用于A型血友病的现有及新型凝血因子VIII替代产品。
Ther Adv Hematol. 2017 Oct;8(10):303-313. doi: 10.1177/2040620717721458. Epub 2017 Aug 26.

引用本文的文献

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Mild or moderate hemophilia is not always a mild or moderate bleeding disorder: Back to the clinical phenotype.轻度或中度血友病并不总是一种轻度或中度出血性疾病：回归临床表型。
Hemasphere. 2025 Mar 25;9(3):e70111. doi: 10.1002/hem3.70111. eCollection 2025 Mar.
2
Hemophilia is associated with accelerated biological aging.血友病与生物衰老加速有关。
Haematologica. 2025 Mar 13. doi: 10.3324/haematol.2024.286421.
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Emerging Therapies in Hemophilia: Improving Equitable Access to Care.血友病的新兴疗法：改善医疗服务的公平可及性。
J Blood Med. 2025 Feb 20;16:95-115. doi: 10.2147/JBM.S490588. eCollection 2025.
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Outcome and Predisposing Factors for Intracranial Hemorrhage in Turkish Children with Hemophilia.土耳其血友病儿童颅内出血的结局及诱发因素
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Extending health equity to people with moderate and mild hemophilia A: revisiting the HAVEN 6 trial.将健康公平扩展至中度和轻度甲型血友病患者：重新审视HAVEN 6试验。
Res Pract Thromb Haemost. 2024 Nov 29;9(1):102648. doi: 10.1016/j.rpth.2024.102648. eCollection 2025 Jan.
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Transforming Hemophilia A Care: Insights into New Therapeutic Options.转变血友病A的治疗：对新治疗选择的见解
Life (Basel). 2024 Nov 29;14(12):1568. doi: 10.3390/life14121568.
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Nonsevere Hemophilia: The Need for a Renewed Focus and Improved Outcomes.非重度血友病：需要重新聚焦并改善治疗结果。
Semin Thromb Hemost. 2025 Feb;51(1):58-67. doi: 10.1055/s-0044-1786358. Epub 2024 May 11.
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In vivo LNP-CRISPR Approaches for the Treatment of Hemophilia.用于治疗血友病的体内脂质纳米颗粒-成簇规律间隔短回文重复序列技术方法
Mol Diagn Ther. 2024 May;28(3):239-248. doi: 10.1007/s40291-024-00705-1. Epub 2024 Mar 28.
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Patient perspective on living with mild hemophilia in Germany: results from a nationwide survey.德国血友病患者对轻度血友病生活的看法：一项全国性调查结果
Front Med (Lausanne). 2024 Feb 5;11:1347024. doi: 10.3389/fmed.2024.1347024. eCollection 2024.
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Emicizumab prophylaxis in infants with hemophilia A (HAVEN 7): primary analysis of a phase 3b open-label trial.依美珠单抗预防治疗血友病 A 婴儿患者（HAVEN 7）：一项 3b 期开放标签试验的主要分析。
Blood. 2024 Apr 4;143(14):1355-1364. doi: 10.1182/blood.2023021832.

本文引用的文献

1
Emicizumab in people with moderate or mild haemophilia A (HAVEN 6): a multicentre, open-label, single-arm, phase 3 study.依库珠单抗治疗中重度及轻度甲型血友病患者（HAVEN 6）：一项多中心、开放标签、单臂、3 期研究。
Lancet Haematol. 2023 Mar;10(3):e168-e177. doi: 10.1016/S2352-3026(22)00377-5. Epub 2023 Jan 27.
2
The bleeding phenotype in people with nonsevere hemophilia.非重型血友病患者的出血表型。
Blood Adv. 2022 Jul 26;6(14):4256-4265. doi: 10.1182/bloodadvances.2022007620.
3
Joint health and treatment modalities in Nordic patients with moderate haemophilia A and B - The MoHem study.北欧中重度 A 型和 B 型血友病患者的关节健康和治疗方式 - MoHem 研究。
Haemophilia. 2020 Sep;26(5):891-897. doi: 10.1111/hae.14114. Epub 2020 Jul 27.
4
WFH Guidelines for the Management of Hemophilia, 3rd edition.《血友病管理的居家指南》第三版
Haemophilia. 2020 Aug;26 Suppl 6:1-158. doi: 10.1111/hae.14046. Epub 2020 Aug 3.
5
Kreuth V initiative: European consensus proposals for treatment of hemophilia using standard products, extended half-life coagulation factor concentrates and non-replacement therapies.Kreuth V 倡议：使用标准产品、延长半衰期凝血因子浓缩物和非替代疗法治疗血友病的欧洲共识建议。
Haematologica. 2020 Aug;105(8):2038-2043. doi: 10.3324/haematol.2019.242735. Epub 2020 May 28.
6
The predictive value of factor VIII/factor IX levels to define the severity of hemophilia: communication from the SSC of ISTH.凝血因子VIII/凝血因子IX水平对血友病严重程度的预测价值：国际血栓与止血学会科学与标准化委员会的交流
J Thromb Haemost. 2018 Oct;16(10):2106-2110. doi: 10.1111/jth.14257. Epub 2018 Sep 5.
7
Arthropathy in patients with moderate hemophilia a: a systematic review of the literature.中度血友病 A 患者的关节病：文献系统综述。
Semin Thromb Hemost. 2013 Oct;39(7):723-31. doi: 10.1055/s-0033-1354422. Epub 2013 Sep 10.
8
Clinical severity of haemophilia A: does the classification of the 1950s still stand?血友病 A 的临床严重程度：50 年代的分类方法是否仍然适用？
Haemophilia. 2011 Nov;17(6):849-53. doi: 10.1111/j.1365-2516.2011.02539.x. Epub 2011 May 5.
9
Haemophilia in Spain.西班牙的血友病。
Haemophilia. 2009 May;15(3):665-75. doi: 10.1111/j.1365-2516.2009.02001.x.
10
Clinical outcome of moderate haemophilia compared with severe and mild haemophilia.中度血友病与重度和轻度血友病相比的临床结果。
Haemophilia. 2009 Jan;15(1):83-90. doi: 10.1111/j.1365-2516.2008.01837.x. Epub 2008 Aug 16.

轻度和中度甲型血友病：被忽视的病症，需求仍未得到满足。

Mild and Moderate Hemophilia A: Neglected Conditions, Still with Unmet Needs.

作者信息

Castaman Giancarlo, Peyvandi Flora, De Cristofaro Raimondo, Pollio Berardino, Di Minno Dario M N

机构信息

Centre for Bleeding Disorders and Coagulation, Careggi University Hospital, 50134 Florence, Italy.

Complex Operative Unit of General Medicine-Hemostasis and Thrombosis, IRCCS Ca' Granda Foundation Ospedale Maggiore Policlinico, 20122 Milan, Italy.

出版信息

J Clin Med. 2023 Feb 8;12(4):1368. doi: 10.3390/jcm12041368.

DOI:10.3390/jcm12041368
PMID:36835904
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9958625/
Abstract

Hemophilia A (HA) is an inherited X-linked bleeding disorder, caused by the deficiency of coagulation factor VIII (FVIII), with variable clinical phenotypes [...].

摘要

甲型血友病（HA）是一种遗传性X连锁出血性疾病，由凝血因子VIII（FVIII）缺乏引起，具有多种临床表型[...]。