Blood keeps us alive. Blood circulates within the body, and brings oxygen. It prevents infection. But for someone who has non-clotting blood, a small cut can be hazardous. That is what occurs to hemophiliacs.
Hemophilia is an unusual, inherited bleeding disorder in which the blood fails to clot. For individuals with hemophilia, even the smallest cut, bruise, or nosebleed will linger horrifically, horrifically long, and be a medical emergency. Everyone is continually inquiring: Is hemophilia curable?
What Is Hemophilia
Hemophilia is a bleeding disorder. In fact, it’s an inability of blood to clot. In the usual scenario, when you injure your skin, your body uses some special proteins, which are called clotting factors, to close the wound and stop bleeding. Hemophilia patients don’t have enough clotting factors or have defective clotting factors.
There are some different types of hemophilia:
- Hemophilia A: Due to factor VIII clotting factor deficiency. Most common.
- Hemophilia B: Due to abnormal clotting factor IX. Less common.
- Hemophilia C: Due to abnormal clotting factor XI. Extremely rare.
Hemophilia is an X-linked disorder. Since the faulty gene is on the X chromosome. Women may inherit the gene. It can transmit it to their offspring. But it will not usually become affected themselves.
Symptoms of Hemophilia
Symptoms vary according to the severity of the disorder. Inappropriately bleeding after trauma or surgery occurs in patients with mild hemophilia. Bleeding following trauma occurs in patients with severe hemophilia.
Some of the characteristic signs include:
- Easy bruising
- Recurrent epistaxis
- Bleeding on toothbrushing
- Bleeding in urines or stools
- Prolonged bleeding when cuts or minor trauma are inflicted
- Swelling, pain, and stiffness resulting from intrajoint hemorrhage
- Hemorrhage following extractions or surgery, delayed
Bleeds into muscles and joints and, if untreated, result in permanent damage and disability.
Causes of Hemophilia
Hemophilia results from a lack of the gene that codes for clotting factors. Since genes are carried on the X chromosome, hemophilia primarily occurs in boys.
A boy would be diagnosed with hemophilia if he inherited the faulty gene from his mother.
A woman who inherits the faulty gene is a carrier. She may be healthy but can transmit the gene to her offspring.
Late in life, in a few cases, hemophilia also results from the immune system destroying the body’s own blood-clotting factors. This is referred to as acquired hemophilia.
Is Hemophilia Curable
Hemophilia cannot be completely eliminated to date. But with the application of contemporary treatment, hemophiliacs are living normal, healthy, and active lives for several decades.
Researchers are now trying gene therapy, which also shows very encouraging results. Gene therapy tries to repair the faulty gene and allow the body to naturally produce the clotting factor. As wild as it sounds experimental, hemophilia will eventually be cured.
Therefore, though hemophilia cannot be cured for life as of now, it can be well managed with proper treatment.
Treatment of Hemophilia
Replacement of the missing clotting factor is the main treatment for hemophilia. It helps in the normal clotting of blood. It differs with severity.
Factor Replacement Therapy
It is used most commonly. It is done by intravenous infusion of clotting factor proteins. It exists in two forms:
- Plasma-derived clotting factors: Obtained from donated human blood.
- Recombinant clotting factors: Produced in the laboratory with no human blood.
Infusions of Factor VIII and IX Clotting Factor
They are given as required (in event of bleeding) or on a continuous basis as a preventive drug for attempting to prevent the bleeding from happening.
Desmopressin (DDAVP)
It is an artificially made hormone for slight hemophilia A. It triggers the release of extra clotting factor VIII from the body.
Antifibrinolytic Drugs
These drugs prevent premature dissolution of blood clots. These are administered in minor surgery or dental surgery.
Gene Therapy
Gene therapy is experimental and new therapy. With this, patients receive a normal copy of the defective gene. This causes their body to make clotting factors normally. The trials so far have been encouraging, and some of the patients have been off replacement therapy for years or months.
Supportive Care
- Reduction of joint pain bleeding
- Exercise therapy to aid muscle development and joint protection
- Surgery in severe situations if the joints are affected
Hemophilia Lifestyle
By virtue of medical technology, a person with hemophilia can lead almost normally. It does, however, need monitoring and being adapted into one’s life.
Safety Precautions in Everyday Life
- Avoid engaging in sports like football or boxing, which are a source of damage.
- Wear protective equipment like helmets and knee pads while roller skating or biking.
- Notify teachers, coaches, and co-workers of the condition in case of an emergency.
- Brush and floss teeth gently to avoid bleeding gums.
Healthy Habits
- Eat a balanced meal in order to be healthy because being overweight will put excess stress on joints.
- Exercise lightly under cover, for example, a swim or walk.
- Stop smoking and drinking alcohol, as these will lead to additional bleeding.
Mental Health and Support
Chronic illness is anxiety-inducing. Education, counseling, and support groups may make patients and families easier to manage.
Complications of Hemophilia
If hemophilia is untreated, its bleak outcome is:
- Chronic joint disease secondary to repeated internal bleeding
- Severe anemia resulting from bleeding
- Infection of stored blood product (much less so now that safety measures are better)
- Life-threatening intracranial hemorrhage, death
Prophylactic management, early diagnosis, and maintenance care are necessary because of this.
The Future of Hemophilia Treatment
Medicine is advancing at such a breakneck pace, and the future for hemophiliacs is bright.
- Gene Therapy: Gene therapy on an experimental level has already been discovered to reduce or even eliminate bleeding attacks. Not a cure, but very promising.
- Longer-lasting clotting factors: New medications are being made that have to be replaced less frequently, which lowers injections.
- Improved prevention: Doctors now try to prevent bleeding from occurring before it even does, instead of trying to do so while it is happening.
When to Seek Medical Attention
Call a doctor if you have:
- Persistent bleeding that won’t resolve after 10-15 minutes
- Recurring nose and gum bleeding
- Severe bruising without the application of injury
- Swollen, inflamed joints
- Bleeding in stool or urine
- Dizziness, headache, or vomiting upon bumping something lightly (this can be proof of head bleeding)
The sooner you get diagnosed and treated, the healthier you will be with hemophilia.
Most Frequently Asked Questions
Is hemophilia fatal?
Not typically, if treated. However, if not treated, uncontrolled bleeding is fatal.
Do women have hemophilia?
Yes, but not typically. The majority of women are carriers. But some carrier women will experience weak symptoms.
Can hemophilia be cured through surgery?
No. Hemophilia can’t be cured through surgery. It is cured through replacement of deficient clotting factors.
Can patients with hemophilia live normal lives?
Yes. Patients with hemophilia can live active and extended lives as long as they have access to current treatment.
Is gene therapy a hemophilia cure?
Not yet a cure, but it gives relief for several decades and potentially a cure down the line.
Hemophilia is a chronic, irreversible disorder of coagulation of the blood. Although it is not completely curable, it is controllable. The majority of patients can have active, normal lives if they receive replacement therapy, pre-exposure prophylaxis, and some adjustment to their lifestyle.
Hope is once again on the horizon, as more studies are now conducted in gene therapy. Scientists are nearer than ever. Meanwhile, early detection, proper management, and self-management are still the best for controlling hemophilia.
If you and your loved one already exhibit symptoms of hemophilia, do not wait. Have yourself screened, talk to your doctor, and get treatment immediately. Hope, concern, and education spell health and wellness for victims of hemophilia.
