Have you ever wondered what it's like to live with a condition that makes even a minor injury potentially life-threatening?
Hemophilia presents both challenges and triumphs, shaping unique perspectives and fostering incredible strength.
Hemophilia is a rare disease that significantly impacts an individual's life and family.
It is an intriguing bleeding disorder that is characterized by significantly longer bleeding times than those of individuals without the condition.
Today, we will explore the various aspects of an individual's life with hemophilia and what are the recent advances in the medical field to make a difference in their everyday life.
Before we dive deep into the topic, let's quickly dive into what is hemophilia and its type.
How does hemophilia affect your daily life? Know about Hemophilia Symptoms & Caring Tips
What is Hemophilia?
Hemophilia is a rare bleeding disorder. Hemophilia is caused by a non-functional clotting factor.
The individual with the condition could have a mutation or mutations in the important clotting factors genes.
The mutation can leave the individual without the gene, or the factor synthesized by the body is not functional. Ultimately, it depends on the individual case.
However, these cases can be categorized into one of three types of hemophilia: Hemophilia A, Hemophilia B, and Hemophilia C.
Yes, there is Hemophilia C! You would be skeptical about Hemophilia C as Hemophilia A and B have larger cases.
But, let me assure you that there is a "hemophilia C."
Let's discuss the types of hemophilia in brief.
- Hemophilia A is often referred to as "Classic Hemophilia" and is caused by Factor VIII Deficiency.
It is one of the most common X chromosome-linked genetic diseases. It affects biological males more than the biological females.
About four times more cases of hemophilia A are reported than hemophilia B. In a 2019 study, it is estimated that 17.1 cases are reported for every 100,000 males, making it a total of 1.12 million individuals afflicted by the condition.
- Hemophilia B, also called "Christmas disease, " is again linked to the X chromosome-linked genetic disease.
It comprises approximately 20% of cases of hemophilia. About 1.1 million males are estimated to have hemophilia (Source: PMID-31399527).
- Hemophilia C is a rare autosomal-dominant bleeding disorder that affects both women and men.
It is estimated that Hemophilia C occurs in 1 in 1 million individuals. The disease occurs in a severe condition in 20% of the patients.
Now that we have a general idea about hemophilia and its type, we can discuss how individuals manage their everyday lives.
Children require special attention as the parents have to teach them about different hemophilia symptoms and caring tips for everyday life.
How to Deal with Hemophilia Injuries?
Hemophilia is a lifelong condition that affects all aspects of an individual's life.
The condition affects not only the individual fighting the disease but their loved ones as well.
We will cover a few aspects of how individuals can deal with injuries to live a fulfilling life.
- Small cuts and scrapes are a frequent occurrence in everyday life. In most cases, the bleeding does stop on its own, but it is advisable to be aware of basic first aid.
After a cut, one must apply direct pressure on the cut and use ice packs to constrict the blood vessels and help blood clot faster. It is also suggested that sugar be used to help clot formation faster, but there is no scientific proof for it.
- Nosebleeds is another common occurrence in individuals. For slight bleeding, individuals can sit with their head tilted slightly forward.
For slightly heavier bleeding, it is advisable to spit blood to avoid swallowing or vomiting and pinch the bridge of the nose while applying continuous pressure for 20 minutes while applying an ice pack to the back of the neck. If there is a large amount of bleeding, visit a doctor as soon as possible.
- Bruises are mild symptoms and not a cause of alarm. They can appear discolored (dark blue to purple) on the skin.
These bruises usually disappear on their own, but if you see these bruises near the head, throat, joints, or groin, plan a visit to your doctor.
- Joint and muscle bleeds are usually recognized by the accumulation of blood in certain regions.
- These bleeds can happen spontaneously or accompany a trauma. Under both conditions, prompt treatment is required to live a fulfilling life.
- The individuals must be aware of RICE! It is a treatment option to reduce bleeding by resting the medication, using ice to accelerate blood clotting, compression over the injury to reduce inflammation, and keeping the injured part elevated above the heart level to help reduce swelling.
- A point to note is that this swelling is not a typical inflammation. It could be a symptom of blood accumulating in a region.
- Head bleeds occur on the outside or inside of the skull and can even happen through the mouth, eyes, and ears. One must consider these bleeds serious and visit a doctor immediately.
- Even a small bump on the head must never be overlooked because it can lead to severe conditions in the future.
Here, we would like to share the early signs and symptoms of head blood:
- Irritability
- Nausea and vomiting
- Sensitivity to bright light
- Acting confused
- Being inconsolable
Treatment of Hemophilia
Doctors found that replacing blood clotting factors is the best way to treat hemophilia.
It is done so blood can clot properly. Now, you might wonder how one gets a clotting factor.
The typical way to do this is by delivering the concentration of clotting factors in the individual's veins.
The prescribed medicine is based on individual cases, but we can divide them into two types of clotting factor concentrations.
Plasma-derived Factor Concentrates: Plasma is the liquid part of the blood. This liquid contains several components of the blood, including proteins, antibodies, albumin, and clotting factors.
Pharmaceutical companies use conventional methods to isolate plasma-derived factors from human blood, concentrate them, and test for various infections, including viruses, before packaging them for use.
Recombinant Factor Concentrates: In the early 1990s, the US FDA approved recombinant factor VIII, which does not come from human plasma.
This acceptance of recombinant factor VIII has opened an avenue for other recombinant clotting factors, and now recombinant factors VIII and IX are also available.
These recombinant factors do not contain any plasma or albumin and, therefore, cannot spread bloodborne viruses.
A downside is the development of inhibitors in the individual's body post-long-term usage.
These inhibitors make it difficult to stop bleeding episodes because they prevent the clotting factors from working as intended.
Advancements in Medicine for Hemophilia Treatment
The last decade has shown tremendous progressive medical advancements, including CRISPR-Cas, cellular therapy, and stem cell technology.
1. CRISPR-Cas
CRISPR-Cas has a huge potential to treat several genetic diseases, including hemophilia.
There are already studies across the globe that are testing different ways to deliver the disease to treat hemophilia A and B.
However, presently, we are only in the preclinical phase of using CRISPR-Cas to treat hemophilia.
A study in EMBO Molecular Medicine showed the use of adenoviral vectors to deliver the clotting factor gene for hemophilia B in mice.
The study shows a high efficiency of delivering the clotting factor gene, but its use in therapeutic is still under question.
Several other stories also show the same results that CRISPR-Cas could treat hemophilia.
The recent approval of CRISPR-Cas in the treatment of Sickle cell anemia by the US FDA has opened a new avenue for treatments.
2. Cell Therapy
Another strategy that has progressed well in clinical trials is cell therapy.
A study published in the New England Journal of Medicine of phase III clinical trials showed that cell therapy effectively reduces bleeding and factor VIII concentrate use significantly.
At the time of writing this, a few studies are underway to study the therapeutic effects of adenoviral vectors to deliver the gene responsible for hemophilia.
3. Stem Cell Technology
Along with cellular therapy, a significant number of clinical studies are in the recruiting phase of clinical trials to provide long-term relief from Hemophilia.
In these studies, peripheral blood stem cells and mesenchymal stem cells are being used to treat the disorder.
Researchers are utilizing the GMP-approved stem cells to treat these diseases.
These stem cells can produce clotting factors, potentially working by direct engraftment or through genetic material transfer via vesicles, and provide a long-term solution to this rare disease.
Conclusion
Hemophilia, a complex yet manageable genetic disorder, presents individuals with unique challenges throughout their lives, from navigating everyday injuries to seeking proper treatment.
While there is no cure at present, recent advancements in medicine like CRISPR-Cas, cell therapy, and stem cell technology offer promising possibilities for a future with reduced bleeding episodes and, potentially, a cure.
As research continues to break new ground, the future for those with hemophilia looks brighter.
Remember, with the right support system and knowledge, hemophilia doesn't have to define you; you can define your path to a fulfilling life.
Hope you understand hemophilia's latest treatment
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