Haemophilia: Problems and achievements (literature review)
Abstract
Haemophilia is an X-linked disorder characterised by the absence or dysfunction of certain blood clotting factors. Haemophilia A is characterised by a deficiency of factor VIII, while haemophilia B is characterised by a deficiency of factor IX. Factor XI deficiency, known as haemophilia C, is a very rare disorder accompanied by bleeding and characterised by moderate symptoms; although this condition is not widespread, standard treatment is associated with significant difficulties related to socio-economic factors. Sequencing of the genes involved in the development of haemophilia has made it possible to describe and record the main mutations and to establish a correlation with different degrees of disease severity. Haemorrhagic manifestations are related to the level of circulating factor, mainly affecting the musculoskeletal system, and especially the large joints (knees, ankles and elbows). This document provides an overview and consensus on the main genetic aspects of haemophilia A and B, from the nature of inheritance to the concept of female carriers, the pathophysiology and classification of the disease, basic and confirmatory tests for suspected haemophilia, various treatment regimens based on infusion of the deficient blood clotting factor, as well as innovative factor-free treatments and recommendations for the management of treatment-related complications, inhibitor development and/or transfusion-transmitted infections. The importance of comprehensive care as a treatment strategy for patients with haemophilia is recognised worldwide. Comprehensive care includes addressing the full range of medical and psychological issues affecting both patients and their families
Keywords:
haemophilia; clotting factors VIII and IX; treatment; preventionReferences
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