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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Determinants and modifiers of bleeding phenotypes in haemophilia-A: General and tropical perspectives
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Determinants and modifiers of bleeding phenotypes in haemophilia-A: General and tropical perspectives

机译：A型血友病出血表型的决定因素和修饰因素：一般和热带视角

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Haemophilia-A is an X-linked recessive bleeding disorder characterized by deficiency of FVIII. Although severity of haemophilia is largely determined by the extent to which different mutations abolish FVIII production, the overall phenotypic variations among haemophiliacs is determined by a combination of several other factors, which range from general to tropical factors on the one hand, and from genetic to immunologic and infective factors on the other hand. Determinants and modifiers of haemophilic bleeding phenotypes are important predictors of prognosis. However, tropical determinants of haemophilic bleeding phenotypes are virtually ignored because majority of haemophilia research originated from developed non-tropical countries. The aim of this paper is to present a balanced review of the haemophilic bleeding phenotypes from general and tropical perspectives. Hence, we present a concisely updated comprehensive review of the pathophysiologic and clinical significance of general vis-à-vis tropical determinants and modifiers of haemophilic bleeding phenotypes from genetic, immunologic and infective perspectives. Understanding of general phenotypic determinants such as FVIII gene mutations, immunological (inhibitors) and infective (e.g. hepatitis and HIV) complications, classical thrombophilias (e.g. FV-Leiden) and non-classical thrombophilias (e.g. non-O blood groups) will throw more light into the mechanisms by which some tropical prothrombotic gene mutations (such as sickle β-globin gene) and certain chronic tropical pro-haemorrhagic parasitic infections (such as urinary and gastrointestinal helminthiasis) may modify frequency, intensity and pattern of bleeding among haemophiliacs in the tropics. The clinical significance of iron deficiency within the context of helminthiasis and haemophilia is also reviewed. More research is needed to determine the precise effect of non-classical thrombophilias such as sickling disorders and ABO blood groups on haemophilic bleeding phenotypes. Meanwhile, tropical healthcare workers should incorporate regular screening and treatment for common pro-haemorrhagic parasitic diseases and iron deficiency into standard of care for management of haemophilia.
机译：血友病A是一种以FVIII缺乏为特征的X连锁隐性出血性疾病。尽管血友病的严重程度很大程度上取决于不同突变消除FVIII产生的程度，但血友病患者的总体表型变异是由多种其他因素共同决定的，这些因素一方面从一般因素到热带因素，从遗传因素到另一方面是免疫和感染因素。血友病出血表型的决定因素和修饰因素是预后的重要预测指标。然而，实际上血友病出血表型的热带决定因素实际上被忽略了，因为大多数血友病研究来自发达的非热带国家。本文的目的是从一般和热带角度对血友病出血表型进行平衡回顾。因此，我们从遗传，免疫学和感染学的角度简要概述了一般性热带决定簇和嗜血性出血表型修饰因子的病理生理学和临床意义。了解一般表型决定因素，例如FVIII基因突变，免疫学（抑制剂）和传染性疾病（例如肝炎和艾滋病毒）并发症，经典的血友病（例如FV-Leiden）和非经典的血友病（例如非O血型），将为我们提供更多的信息热带某些血栓形成前基因突变（例如镰刀β-球蛋白基因）和某些慢性热带出血前寄生虫感染（例如泌尿系统和胃肠道蠕虫病）可能会改变热带血友病患者出血的频率，强度和模式。还回顾了蠕虫病和血友病背景下铁缺乏症的临床意义。需要更多的研究来确定非经典血栓形成性疾病（如镰状疾病和ABO血型）对血友病性出血表型的确切影响。同时，热带医护人员应将常规的出血性寄生虫病和铁缺乏症的常规筛查和治疗纳入血友病管理的护理标准中。

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