Mahinour Oraby: Hemophilia Awareness – The First Step Toward Better Care

Mahinour Oraby, Agricultural Biotechnology Student at Alexandria University, shared a post on LinkedIn:

“Hemophilia: Awareness for Better Care

Hemophilia is an X-linked congenital bleeding disorder caused by a deficiency of coagulation factor VIII (FVIII) (in hemophilia A) or factor IX (FIX) (in hemophilia B).

The deficiency is the result of mutations of the respective clotting factor genes and with a prevalence of 1 in 5,000 and 1 in 30,000 male live births.

The diagnosis

of hemophilia A or B is confirmed by the identification of a low level of the specific factor using laboratory assays. Affected individuals have a lifelong bleeding tendency, caused by the failure of secondary hemostasis, with the degree of severity being proportional to the degree of reduction of the specific coagulation factor.

Thus, severe, moderate, and mild forms of the hemophilias can be identified according to FVIII or FIX plasma levels of 1% or less, 2 to 5%, and 6 to 30%, respectively.³ Patients with mild hemophilia rarely have unprovoked hemorrhages and usually experience bleeding only after trauma or surgery.

By contrast, patients with moderate disease occasionally have spontaneous hemorrhages and patients with severe hemophilia develop spontaneous hemorrhages from early infancy, particularly into the joints and muscles, and usually at the time of ambulation onset.

Over time, recurrent hemarthroses and soft-tissue hematomas lead to severe arthropathy, joint con-tractures, and pseudotumors, resulting in chronic pain and disability.

Principles of care

The primary aim of care is to prevent and treat bleeding with the deficient clotting factor.

Whenever possible, specific factor deficiency should be treated with specific factor concentrate.People with hemophilia are best managed in a comprehensive care setting (see ‘Comprehensive Care’).

Acute bleeds should be treated as quickly as possible, preferably within 2 h. If in doubt, treat.
Patients usually recognize early symptoms of bleeding even before the manifestation of physical signs. This is often described as a tingling sensation or “aura”.

During an episode of acute bleeding, an assessment should be performed to identify the site of bleeding (if not clinically obvious) and appropriate clotting factor should be administered.

In severe bleeding episodes that are potentially life-threatening, especially in the head, neck, chest, and gastrointestinal tract, treatment with factor should be initiated immediately, even before diagnostic assessment is completed.

To facilitate appropriate management in emergency situations, all patients should carry easily accessible identification, indicating the diagnosis, severity of the bleeding disorder, inhibitor status, type of treatment product used, initial dosage for treatment of severe, moderate, and mild bleeding, and contact information of the treating physician/clinic.

Administration of desmopressin (DDAVP) can raise FVIII level adequately (three to six times baseline levels) to control bleeding in patients with mild, and possibly moderate, hemophilia A. Testing for DDAVP response in individual patients is appropriate.

Veins must be treated with care. They are the lifelines for a person with hemophilia.23- or 25-gauge butterfly needles are recommended.

Never cut down into a vein, except in an emergency.Apply pressure for 3–5 min after venipuncture.Venous access devices should be avoided whenever possible, but may be required in some children.

djunctive therapies can be used to control bleeding, particularly in the absence of clotting factor concentrates, and may decrease the need for them (see ‘Adjunctive Management’).

If bleeding does not resolve despite adequate treatment, clotting factor levels should be measured. Inhibitor testing should be performed if the level is unexpectedly low (see ‘Inhibitor Testing’, and ‘Inhibitors’).

Prevention of bleeding can be achieved by prophylactic factor replacement (see ‘Prophylactic Factor Replacement Therapy’).

Home therapy can be used to manage mild/moderate bleeding episodes (see ‘Home therapy’).

Regular exercise and other measures to stimulate normal psychomotor development should be encouraged to promote strong muscles, develop balance and coordination, and improve fitness (see ‘Fitness and Physical Activity’).

Patients should avoid activities likely to cause trauma (see ‘Fitness and Physical Activity’).

Regular monitoring of health status and assessment of outcomes are key components of care (see ‘Monitoring Health Status and Outcome’).

Drugs that affect platelet function, particularly acetylsalicylic acid (ASA) and non-steroidal anti-inflammatory drugs (NSAIDs), except certain COX-2 inhibitors, should be avoided. Paracetamol/acetaminophen is a safe alternative for analgesia (see ‘Pain Management’).

Factor levels should be raised to appropriate levels prior to any invasive procedure (see ‘Surgery and Invasive Procedures’).

The comprehensive care team should also include or have access to, among others:chronic pain specialist

• dentist
• geneticist
• hepatologist
• infectious disease specialist
• immunologist
• gynecologist/obstetrician

Pain management

• Acute and chronic pain are common in patients with hemophilia. Adequate assessment of the cause of pain is essential to guide proper management.
• Pain caused by venous access
• In general, no pain medication is given.
• In some children, application of a local anesthetic spray or cream at the site of venous access may be helpful.
• Pain caused by joint or muscle bleeding
• While clotting factor concentrates should be administered as quickly as possible to stop bleeding, additional drugs are often needed for pain control .

Other measures include cold packs, immobilization, splints, and crutches .

How hemophilia is inherited

Both hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency) are inherited in the same way, because both the genes for factor VIII and factor IX are located on the X chromosome (chromosomes are structures within the body’s cells that contain the genes).

If a mother is heterozygous for hemophilia and the father does not have hemophilia, each son has a 1 in 2 (50%) chance of getting his mother’s hemophilia allele and having hemophilia. Each daughter has a 1 in 2 (50%) chance of getting her mother’s hemophilia allele and being heterozygous. Overall, there is a 1 in 4 (25%) chance for each pregnancy that the baby will be a son with hemophilia and a 1 in 4 (25%) chance that the baby will be a heterozygous daughter.

There is a 1 in 2 (50%) chance that the baby (either a son or a daughter) will not get the hemophilia allele at all and, therefore, can’t pass it down to his or her children.

A father who has hemophilia passes his only X chromosome down to all of his daughters. The daughters will always get his hemophilia allele and be heterozygous. A father passes down his Y chromosome to his sons. Fathers cannot pass down a hemophilia allele to sons.

Without the hemophilia allele, the sons will not have hemophilia and can’t pass it down to their children.

Overall, there is a 1 in 2 (50%) chance that the child of a father who has hemophilia will be a son who does not have hemophilia and a 1 in 2 (50%) chance that the child will be a daughter who is heterozygous (a carrier). This is true if the mother does not have a hemophilia allele herself. That would be very rare.

Fitness and physical activity

Physical activity should be encouraged to promote physical fitness and normal neuromuscular development, with attention paid to muscle strengthening, coordination, general fitness, physical functioning, healthy body weight, and self-esteem.

Bone density may be decreased in people with hemophilia.

For patients with significant musculoskeletal dysfunction, weight-bearing activities that promote development and maintenance of good bone density should be encouraged, to the extent their joint health permits.”

Reference

1. Franchini M, Mannucci PM. ‘The History of Hemophilia.’ Seminars in Thrombosis and Hemostasis.
2. Srivastava A, et al. ‘Guidelines for the management of hemophilia.’ Haemophilia
3. Centers for Disease Control and Prevention (CDC). ‘How Hemophilia Is Inherited.’
4. Centers for Disease Control and Prevention (CDC). ‘Diagnosing Hemophilia.’ “

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