Every April 17 is World Hemophilia Day. It was originally created by the World Federation of Hemophilia in 1989, to increase the awareness of the disease as well as those who suffer from it.
The theme of the event in 2024 is "Equitable Access for All: Recognizing All Bleeding Disorders", calling the action for coming together and advocating with local policy makers and governments to recognize all bleeding disorders. It is crucial for equitable treatment to all those living with a bleeding disorder.
Hemophilia is a rare disease defined by the WHO. Patients have a lifelong tendency to bleed. A slight collision may bring serious consequences. They are called "glass people."
On this special day, let us enter the world of "glass people" together and understand and care for them more.
What is hemophilia?
Is hemophilia leukemia?
What are the characteristics of hemophilia?
Emergency treatment for joint bleeding
Useful Tips for Minimizing the Risks with Hemophilia
How is the innovative treatment going?
What can we do to help?
What is hemophilia?
Hemophilia is usually an inherited bleeding disorder in which blood cannot clot normally due to a lack of a group of clotting factors. It is also a birth defect that seriously endangers health. This can lead to spontaneous bleeding as well as bleeding after injury or surgery. Blood contains many proteins called clotting factors that help stop bleeding. When someone who does not have hemophilia suffers an injury that causes bleeding, twelve different clotting factors interact in a chain reaction that results
in the formation of a blood clot. People with hemophilia have low levels of factor VIII(8) or factor IX(9), and the severity of the disease is directly proportional to the amount of factor in the blood.
In rare cases, a person may develop hemophilia later in life. Most cases involve middle-aged or older women, or young women who have recently given birth or are in the third trimester of pregnancy. This condition usually resolves with appropriate treatment.
Is hemophilia leukemia?
Many people confuse hemophilia and leukemia, but they are actually two different diseases.
Hemophilia is caused by a congenital lack of coagulation factors, while leukemia is a cancer, a blood cancer, caused by malignant clones of hematopoietic stem cells that proliferate and accumulate in large quantities in the bone marrow and other hematopoietic tissues, and infiltrate other non-hematopoietic tissues and organs, while inhibiting normal Hematopoietic function.
What are the characteristics of hemophilia?
- Heredity
X-linked recessive inheritance.
Does a blood friend pass on male or female?
Not really.
For hemophilia A and B, because the disease-related genes are located on the X chromosome, there are far more males than females. It usually affects men, but many women carry the related gene but do not develop the disease. However, women are just less likely to develop the disease than men; they are also susceptible to the disease. For hemophilia C, the disease-causing genes are located on autosomal chromosomes, and the incidence of the disease is similar in men and women.
- Easily cause joint damage and physical disability.
Weight-bearing knee joints, ankle joints, etc. often bleed repeatedly, which can lead to joint swelling and muscle necrosis, which can lead to joint deformity, muscle atrophy, and even limb disability.
- Onset in childhood and last throughout life.
Characteristics of bleeding in patients with hemophilia
The main symptoms are non-stop bleeding:
Passive bleeding: Bleeding is not easy to stop after trauma, surgery, or impact.
Active bleeding: spontaneous bleeding without any inducement, such as bleeding gums and red and swollen joints. It may be secondary to liver diseases such as cirrhosis and hepatitis, liver cancer metastasis, extrahepatic cancer metastasis, certain blood diseases, systemic lupus erythematosus, rheumatoid arthritis, uremia, etc.
If clotting factor activity is only mildly reduced, the bleeding may only stop after surgery or trauma. If clotting factor activity is severely reduced, spontaneous bleeding may even occur.
Emergency treatment for joint bleeding with hemophilia
In daily life, if joint bleeding occurs, besides call 911, the PRICE principle should be adopted while controlling the bleeding, that is:
Protect:
Protect the bleeding area immediately to avoid aggravation.
√ Take gauze or Quick Clot bandages and cover wound.
√ lf the wound is large and deep: "Stuff" gauze or Quick Clot bandages into the wound
√ Apply contnuous pressure with both hands directly on top of the bleeding wound
√ Push down as hard as you can
√ Hold preasure to stop bleeding. When bleeding is controlled, wrap wound and gauze tightly with elasticbandage. Continue pressure until relieved by medical responders.
Tips: For severe or life-threatening bleeding from an arm or leg: Use a tourniquet if available.
Rest:
Avoid injured limb activities and place the affected area on an elevated surface to rest.
Ice:
To reduce pain and bleeding, but because the activity of coagulation factors is related to temperature, it is necessary to pay attention to the skin temperature not being too low and keeping it around 37°C.
Compression:
Elastic bandages or elastic stockings can be used to compress joints. Gentle pressure can help limit bleeding and protect joints. If nerve damage is suspected, use compression with caution.
Elevation:
Elevating the bleeding site higher than the heart can reduce the pressure on the blood vessels at the bleeding site and slow down bleeding.
Useful Tips for Minimizing the Risks with Hemophilia
Adhering to prevention first, early detection, early intervention and early treatment are the best ways to prevent and treat hemophilia.
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Be able to recognize when bleeding becomes an emergency
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Make a plan for managing bleeding in case it happens at home
- Children with hemophilia should have an examination every six months, and adult patients should have an examination at least once a year.
- Patients with hemophilia can receive various types of
vaccines routinely. For patients with hemophilia A, Hemlibra® is a monoclonal antibody that can provide prophylaxis using a weekly or monthly subcutaneous injection. It is recommended that prophylactic treatment of coagulation factors be given on the day of vaccination before vaccination. - Pay attention to tooth and gum health to prevent bleeding caused by dental caries and gum disease.
- Cultivation of good eating habits, reasonable diet, balanced nutrition, and weight control.
- Avoid trauma and strenuous exercise to reduce the risk of bleeding, avoid aspirin drugs and anti-platelet aggregation drugs, and avoid intramuscular injections. Reduce infection, which can worsen bleeding tendencies.
- Hemophilia patients should prevent bumps and falls when participating in outdoor activities during the non-bleeding period, and avoid strenuous or injury-prone sports. Carry emergency hemostatic drugs and supplies with you during outdoor activities to ensure safety.
- Hemophilia patients can get married and have children, but due to the lack of effective radical cure measures for hemophilia, screening and prenatal diagnosis are needed to achieve the purpose of eugenics and postnatal care. Women with a family history of hemophilia should undergo genetic testing before pregnancy. Women with a family history but no gene carriers can give birth according to normal procedures after pregnancy. For female carriers, it is best to undergo amnion testing at a specific period after pregnancy. Cavity puncture sampling, etc., to determine whether the fetus is a hemophilia patient or carrier.
How is the innovative treatment going?
For hemophilia, gene therapies include Hemgenix® (approved 2022) for hemophilia B and Roctavian® (anticipated approval summer 2023) for hemophilia A.
Hemgenix is designed to replace the gene which is responsible for Factor IX and is defective in people with hemophilia B. Results from the pivotal Phase 3 trial that led to Hemgenix's approval showed that seven to 18 months after infusion, the average adjusted annualized bleeding rate was reduced by 54% compared to baseline. The trial included 54 patients with hemophilia B, 51 of whom (or 94%) were able to discontinue use of prophylaxis and remained free of those routine treatments 18 months of follow-up.
Roctavian is indicated for the treatment of adults with severe hemophilia A (congenital factor VIII deficiency with factor VIII activity <1 IU/dL) without pre-existing antibodies to adeno-associated virus serotype 5 detected by an FDA-approved test.
Among the rare diseases, it's important to recognize that a large number of gene therapies available today are for ultra-rare diseases with little or no existing alternative treatment options. In comparison, hemophilia has a number of highly effective treatments available. While gene therapies may provide another innovative option for hemophilia treatment, it may cost as high as $3.5 million per dose, but not always curative.
What can we do to help?
So, What Does World Hemophilia Day Mean to You?
It can be a word, a sentence, an image, or a story – whatever you want to share, or more understanding and letting hemophilia patients get social support timely.
Although hemophilia cannot be completely cured, fortunately, when properly managed--Through good preventive treatment and strengthened daily management to reduce the number of bleeding and avoid joint damage, many hemophilia patients can live a normal life, especially children.