Editing Haemophilia (section)

== Signs and symptoms ==
[[File:A woman suffering from Hemophilia.png|thumb|upright=1.3|An illustration of a woman with haemophilia]]

Characteristic [[symptom]]s vary with severity. In general symptoms are internal or external bleeding episodes, which are called "bleeds".<ref>[http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=191&contentid=382&rptname=bleeding Types of Bleeds] {{webarchive|url=https://web.archive.org/web/20100213033649/http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=191&contentid=382&rptname=bleeding |date=13 February 2010 }} National Hemophilia Foundation.</ref><ref>[http://www.haemophilia.org.uk/index.php?content_id=87&parent=278 Key facts: what is haemophilia?] {{webarchive|url=https://web.archive.org/web/20090523015116/http://www.haemophilia.org.uk/index.php?content_id=87&parent=278 |date=23 May 2009 }} The Haemophilia Society.</ref> People with more severe haemophilia experience more severe and more frequent bleeds, while people with mild haemophilia usually experience more minor symptoms except after surgery or serious trauma. In cases of moderate haemophilia symptoms are variable which manifest along a spectrum between severe and mild forms.<ref>{{cite journal | vauthors = Benson G, Auerswald G, Dolan G, Duffy A, Hermans C, Ljung R, Morfini M, Šalek SZ | title = Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management
 | journal = Blood Transfusion
 | publisher = Blood Transfus. | date=November 2018 | volume = 16 | issue = 6 | pages = 535–544
 | doi=10.2450/2017.0150-17 | pmid = 29328905| pmc = 6214819
 }}</ref>

In both haemophilia A and B, there is spontaneous bleeding but a normal bleeding time, normal [[prothrombin time]], normal [[thrombin time]], but prolonged [[partial thromboplastin time]]. [[Internal bleeding]] is common in people with severe haemophilia and some individuals with moderate haemophilia. The most characteristic type of internal bleed is a [[hemarthrosis|joint bleed]] where blood enters into the [[joint|joint spaces]].<ref name=emed/> This is most common with severe haemophiliacs and can occur spontaneously (without evident [[trauma]]). If not treated promptly, joint bleeds can lead to permanent joint damage and disfigurement.<ref name=emed/> Bleeding into soft tissues such as [[muscle]]s and [[subcutaneous tissue]]s is less severe but can lead to damage and requires treatment.<ref>[https://www.medicalnewstoday.com/articles/321996 Medical News Today]</ref>
Children with mild to moderate haemophilia may not have any signs or symptoms at birth, especially if they do not undergo [[circumcision]]. Their first symptoms are often frequent and large [[bruise]]s and [[hematoma|haematoma]]s from frequent bumps and falls as they learn to walk. Swelling and bruising from bleeding in the joints, [[soft tissue]], and muscles may also occur. Children with mild haemophilia may not have noticeable symptoms for many years. Often, the first sign in very mild haemophiliacs is heavy bleeding from a [[dentistry|dental procedure]], an accident, or [[surgery]]. Females who are carriers usually have enough clotting factors from their one normal gene to prevent serious bleeding problems, though some may present as mild haemophiliacs.<ref>{{cite journal |vauthors=Gualtierotti R, Garagiola I, Mortarino M, Spena S, Romero-Lux O, Peyvandi F |title=Gender equity in hemophilia: need for healthcare, familial, and societal advocacy |journal=Front Med (Lausanne) |volume=11 |issue= |pages=1345496 |date=2024 |pmid=38646558 |pmc=11026857 |doi=10.3389/fmed.2024.1345496 |doi-access=free}}</ref>

===Complications===
Severe complications are much more common in cases of severe and moderate haemophilia. Complications may arise from the disease itself or from its treatment:<ref>[http://www.mayoclinic.com/health/hemophilia/DS00218/DSECTION=complications Hemophilia Complications] {{webarchive|url=https://web.archive.org/web/20100121052533/http://www.mayoclinic.com/health/hemophilia/DS00218/DSECTION%3Dcomplications |date=21 January 2010 }} Mayo Clinic Staff. 16 May 2009</ref>
* '''Deep internal bleeding''', e.g. deep-muscle bleeding, leading to swelling, numbness or pain of a limb.
* '''Joint damage''' from [[hemarthrosis|haemarthrosis]] (haemophilic arthropathy), potentially with severe pain, disfigurement, and even destruction of the joint and development of debilitating [[arthritis]].
* '''[[Transfusion transmitted infection]]''' from blood transfusions that are given as treatment.
* '''Adverse reactions''' to clotting factor treatment, including the development of an immune inhibitor which renders factor replacement less effective.
* '''[[Intracranial hemorrhage|Intracranial haemorrhage]]''' is a serious medical emergency caused by the buildup of pressure inside the skull. It can cause disorientation, [[nausea]], loss of consciousness, [[brain damage]], and [[death]].
Haemophilic arthropathy is characterised by chronic proliferative synovitis and cartilage destruction.<ref>{{cite journal|last=Rodriguez-Merchan|first=E. Carlos|title=Musculoskeletal Complications of Hemophilia|pmc=2821487|pmid=19921342|doi=10.1007/s11420-009-9140-9|volume=6|issue=1|year=2010|journal=HSS J|pages=37–42}}</ref> If an intra-articular bleed is not drained early, it may cause apoptosis of chondrocytes and affect the synthesis of proteoglycans. The hypertrophied and fragile synovial lining while attempting to eliminate excessive blood may be more likely to easily rebleed, leading to a vicious cycle of hemarthrosis-synovitis-hemarthrosis.  In addition, iron deposition in the synovium may induce an inflammatory response activating the immune system and stimulating angiogenesis, resulting in  cartilage and bone destruction.<ref name="pmid17822515">{{cite journal | vauthors = Valentino LA, Hakobyan N, Rodriguez N, Hoots WK | title = Pathogenesis of haemophilic synovitis: experimental studies on blood-induced joint damage | journal = Haemophilia | volume = 13 | pages = 10–3 | date = November 2007 | issue = Suppl 3 | pmid = 17822515 | doi = 10.1111/j.1365-2516.2007.01534.x | s2cid = 35723479 }}</ref>