Haemophilia: Understanding Bleeding Disorders and Living with Them

How does blood normally clot, and where does haemophilia interrupt that?

When you cut yourself, two things happen almost simultaneously. Platelets rush to the wound and form a temporary plug. Then a cascade of proteins called clotting factors activates in sequence, each triggering the next, until a strong fibrin clot forms over the platelet plug. These factors are numbered I through XIII, and the cascade only works if all of them are present in sufficient quantity. Remove any one factor from the sequence and the chain breaks.

In haemophilia A, clotting factor VIII is absent or severely reduced. In haemophilia B, it is factor IX. Both factors sit in the middle of the cascade, so their absence leaves the downstream steps unable to activate. Platelet plugs still form, so shallow cuts and grazes stop bleeding on their own eventually. The problem arises with deeper bleeding: into muscles, joints, and organs, where platelet plugs are not enough and the full clotting cascade is essential.

The World Federation of Hemophilia estimates that haemophilia A affects approximately one in 10,000 male births worldwide, with haemophilia B about five times less common. A 2024 paper in Thrombosis Research examining the economic and therapeutic burden of haemophilia A across the Middle East and North Africa region found that diagnosis rates and treatment access remain substantially below those in high-income countries, with many patients experiencing preventable joint damage before a centre can be accessed.

How haemophilia is inherited in a family

The genes encoding clotting factors VIII and IX are both located on the X chromosome. Males carry one X and one Y chromosome. If their single X chromosome carries a faulty copy of the factor VIII or IX gene, there is no backup copy. They develop haemophilia. Females carry two X chromosomes, so they need faulty copies on both to develop the full condition. A woman with one faulty copy and one working copy is called a carrier.

Carriers usually produce around half the normal level of clotting factor. In most situations this is sufficient and they have no symptoms. But some carriers produce substantially less than half, and they can experience heavy periods, easy bruising, and prolonged bleeding after surgery or childbirth. These women are sometimes described as having mild haemophilia in their own right and need the same pre-operative precautions as affected males.

The inheritance mathematics work as follows. A carrier mother and unaffected father produce sons who each have a 50 percent chance of being affected and daughters who each have a 50 percent chance of being a carrier. An affected father and unaffected mother produce daughters who are all carriers and sons who are all unaffected. When no family history exists and a new case appears, this usually reflects a new spontaneous mutation in the gene, which accounts for roughly a third of all haemophilia cases.

What symptoms suggest haemophilia and how is it confirmed?

Severe haemophilia usually becomes apparent in infancy or early toddlerhood, when a crawling or walking child begins to experience the normal bumps of childhood. Large unexplained bruises, prolonged bleeding from the gums during teething, and spontaneous swollen joints with no remembered injury are the classic pattern. A child with haemophilia who bangs a knee may develop a noticeably warm, swollen joint over the following hours as blood accumulates inside the joint space.

Moderate and mild haemophilia may go undiagnosed for years. It often comes to light when a child bleeds excessively after a dental extraction, or when an adult is admitted for planned surgery and pre-operative blood tests show an unexpectedly prolonged activated partial thromboplastin time (APTT). A study examining the spectrum of inherited bleeding disorders in Egyptian children published in Blood Coagulation and Fibrinolysis in 2008 found haemophilia A to be the most common single diagnosis in a hospital referral cohort, accounting for the majority of severe cases.

Confirming the diagnosis requires a specific factor assay measuring the level of factor VIII or factor IX. Severity is defined by how much factor is present: less than 1 percent of normal means severe haemophilia, with spontaneous joint and muscle bleeds. Between 1 and 5 percent means moderate haemophilia, with bleeds usually triggered by minor trauma. Between 5 and 40 percent means mild haemophilia, with bleeds typically only after significant injury or surgery.

How is haemophilia treated and what does factor replacement involve?

Treatment centres on replacing the missing clotting factor by intravenous infusion. Factor concentrates come in two forms: plasma-derived concentrates made from donated human blood that has undergone stringent viral inactivation, and recombinant concentrates produced through genetic engineering without any human blood source. Recombinant products carry essentially no risk of transmitting bloodborne viruses and are the preferred choice where available. Many families with a child who has severe haemophilia learn to administer infusions at home.

There are two treatment approaches. On-demand treatment means giving factor concentrate only when a bleed occurs. Prophylaxis means giving factor concentrate regularly, typically two to three times per week for haemophilia A, to maintain a baseline level that prevents most spontaneous bleeds. A randomised trial published in the Journal of Thrombosis and Haemostasis in 2017 demonstrated that even late-start prophylaxis produces meaningful improvements in joint structure compared with on-demand treatment alone. However, prophylaxis requires considerably more factor concentrate and is substantially more expensive, which limits its availability across much of the region.

The HAEMOcare study published in TH Open in 2019, the first international study specifically measuring haemophilia burden in developing countries including several Arab nations, found that many patients received delayed or incomplete treatment and already had significant joint damage by the time they were assessed. This underlines the importance of registering with a national haemophilia centre as early as possible, and of engaging with the World Federation of Hemophilia humanitarian aid programme, which provides factor concentrate to patients in countries where government supply is insufficient.

Why joint bleeds are so damaging and how to act fast

Joint bleeds, called haemarthrosis, are the most common and most disabling complication of severe haemophilia. When blood enters a joint space, it breaks down and releases iron and inflammatory chemicals that erode cartilage and damage the synovial lining. A single bleed causes minimal damage. Repeated bleeds into the same joint, particularly the knee, ankle, or elbow which absorb the most daily impact, cause cumulative destruction that leads to a stiff, painful, permanently damaged joint called haemophilic arthropathy.

The single most important thing you can do when a joint bleed is suspected is to administer factor concentrate as soon as possible, ideally within two hours of the first symptoms of pain or swelling. Every hour of delay allows more blood to accumulate. After giving the factor, follow the RICE approach: Rest the limb, apply Ice wrapped in a cloth for fifteen minutes, apply gentle Compression, and Elevate the limb above heart level.

Regular physiotherapy is as important to joint health as factor treatment. A paper in Seminars in Thrombosis and Hemostasis from 2005 documented how structured physiotherapy programmes in developing countries, even when conducted without sophisticated equipment, extended joint function and reduced the rate at which patients required orthopaedic interventions. Strengthening the muscles around target joints reduces the mechanical stress on the joint itself and slows the rate of damage between bleeds.

Female carriers: what you need to know before surgery and childbirth

A female carrier typically produces around half the normal quantity of clotting factor, and this is usually enough for everyday life. Some carriers, however, produce substantially less than half. These women are at genuine risk of heavy menstrual bleeding, easy bruising, prolonged bleeding after cuts, and serious haemorrhage after surgery or delivery. Every woman who knows or suspects she may be a haemophilia carrier should have her factor level measured before any planned surgical procedure and before labour.

During pregnancy, factor VIII levels rise naturally in the third trimester, which often gives haemophilia A carriers a temporary improvement in their symptoms. Factor IX levels do not rise in the same way, so haemophilia B carriers remain at risk throughout. After delivery, factor levels fall back and postpartum haemorrhage is a genuine risk. The obstetric team must be informed of carrier status and factor level before the birth plan is finalised.

Couples where one partner carries a haemophilia gene may wish to discuss their options with a clinical geneticist before conceiving. Preimplantation genetic testing during IVF can identify unaffected embryos before transfer. Prenatal diagnosis through chorionic villus sampling at eleven to fourteen weeks, or amniocentesis later in pregnancy, can determine whether the foetus is affected. These conversations are genuinely available in the larger genetic centres in Saudi Arabia, Egypt, Jordan, and the UAE.

Daily life, sports, and medicines to avoid

A child or adult with haemophilia can and should live an active life. Physical activity builds the muscle strength that protects joints, and avoiding exercise entirely leads to weaker joints that are more, not less, vulnerable to damage. The key is choosing the right activities. Swimming, walking, cycling, and light gym work are excellent choices. Contact sports with a high collision risk, such as boxing, full-contact football, and wrestling, carry too great a risk of major bleeding. Recreational football and basketball can be discussed with the treating haematologist based on the individual's severity level and factor access.

Certain medicines are incompatible with haemophilia and must be avoided. Aspirin and non-steroidal anti-inflammatory drugs including ibuprofen and diclofenac reduce platelet function and make the platelet plug less effective. This compounds the underlying clotting defect. For pain relief, paracetamol is safe and effective and should be the first choice. Inform every doctor, dentist, and pharmacist about the haemophilia diagnosis before any prescription is written.

Intramuscular injections must be avoided because they cause muscle haematomas. All vaccinations should be given subcutaneously, not into the muscle, and ideally after a dose of factor concentrate with firm pressure applied to the site afterwards. Carry a medical identification card or bracelet at all times that states the diagnosis, the factor type used, and the contact details of the treating centre. In an emergency, this information is critical for a doctor unfamiliar with haemophilia.

Getting support across the region

The World Federation of Hemophilia runs a humanitarian aid programme that provides factor concentrate and training to haemophilia treatment centres in low and middle-income countries. Their website lists all recognised national haemophilia organisations and treatment centres by country. Registering with the national organisation, even if local treatment is limited, connects families to international support and advocacy.

Saudi Arabia has a national haemophilia programme within the Ministry of Health framework. Egypt has specialist units at several university hospitals in Cairo and Alexandria. Jordan, Kuwait, and the UAE have dedicated haemophilia services at major referral hospitals. In Syria, Yemen, Sudan, and Lebanon, services have been severely disrupted by conflict and economic crisis, though some international organisations provide emergency factor support in specific areas.

If factor concentrate is genuinely unavailable in your area, fresh frozen plasma can provide partial factor replacement and is widely available at blood banks in the region. It is far less effective than concentrate but can be life-saving in a severe bleed when no other option exists. Always ask the haemophilia centre or World Federation of Hemophilia national organisation about accessing donated concentrate before relying on plasma as the only resource.

Sources

• Batran RA, Kamel M, Bahr A et al: Hemophilia A: Economic burden, therapeutic advances, and future forecasts in the Middle East and North Africa region, Thrombosis research, 2024
• Gupta N, Benbouzid A, Belhani M et al: HAEMOcare: The First International Epidemiological Study Measuring Burden of Hemophilia in Developing Countries, TH open, 2019
• El-Bostany EA, Omer N, Salama EE et al: The spectrum of inherited bleeding disorders in pediatrics, Blood coagulation and fibrinolysis, 2008
• Manco-Johnson MJ, Lundin B, Funk S et al: Effect of late prophylaxis in hemophilia on joint status: a randomized trial, Journal of thrombosis and haemostasis, 2017
• Heijnen L, Buzzard BB: The role of physical therapy and rehabilitation in the management of hemophilia in developing countries, Seminars in thrombosis and hemostasis, 2005
• World Federation of Hemophilia: Guidelines for the Management of Hemophilia, 3rd edition, 2020