Introduction

Hemophilia is an uncommon, but serious bleeding disorder that is genetic in where the blood is not clotting properly. It is caused by the deficiency or absence of certain clotting factors, proteins that regulate bleeding. For people with hemophilia, even minor injury can result in an extended bleeding period and possibly complications if it is not handled properly. When diagnosed early and properly treatment, those suffering from hemophilia can live full and life-long, healthy lives.

What is Hemophilia?

Hemophilia is mostly acquired, which means it is passed on through the generations of parents by genes. The majority of males suffer from it more than females because of its connection to the X the chromosome. There are two hemophilia

Hemophilia A :- The cause is a insufficiency in the clotting factor VIII.
Hemophilia B :- The cause is a deficit in the clotting factor IX.

Normal blood clotting processes, platelets, and factors that clot together stop bleeding. When hemophilia is the cause, due to an absence of one or more of these vital factors, clotting can be delayed or is not effective. This leaves the patient vulnerable to uncontrolled bleeding both internally and externally particularly into muscles and joints.

The causes of Hemophilia

The main reason for hemophilia is a mutation or alteration in the genes that make blood clotting factors. The mutation is typically passed down through the family however, in approximately 30 percent of cases the patient has no familial history. These instances are known as hemophilia that is sporadic.

Hemophilia can be described as an X-linked recessive disorder This is a reference to:

The defective gene can be found on the X Chromosome.
Since males are the only ones with an the X chromosome. If they carry the defective gene, they’ll be affected by hemophilia.
Females are blessed with two X chromosomes. Therefore, in the event that one gene is damaged then the other one usually compensates which makes them carriers rather than sufferers. In some cases, in rare cases, females may experience symptoms if two genes have been affected, or when the normal X chromosome is not activated.

There are also rare instances with the acquired hemophilia in which the body develops antibodies to factors that cause clotting because of autoimmune diseases such as cancer, pregnancy or certain drugs.

The signs of Hemophilia

The severity of the symptoms varies on the the clotting element in the blood. In extreme cases, minor injuries could cause in excessive bleeding. In contrast, in minor cases, bleeding can occur only following an operation or trauma.

Common symptoms are:

Long-term bleeding following injury or cuts
Frequent nosebleeds
Excessive bleeding after surgery or dental procedures
Insane bleeding into muscles and joints
Hematomas and large bruises
Blood in stool or in urine
Joint stiffness, pain or swelling (especially ankles, knees or elbows)

For toddlers and infants unresolved irritation, bruises following minor bumps and the bleeding in the mouth following teething can be a sign of.

Diagnosis of Hemophilia

The early diagnosis is essential to ensure effective treatment. The diagnosis usually begins with a thorough health and familial history particularly in families that are known to have the disease.

The diagnostic steps are:

1. Tests for blood :- These are used to determine the time it takes blood to clot, and whether certain factors that cause clotting are not present.

2. Clotting test :- These tests determine the deficiency of a factor (Factor VIII, IX) and the degree of severity (mild moderate, severe, or moderate).

3. Tests for genes :- These used for the detection of carriers and for prenatal diagnosis.

4. The diagnosis of pregnancy :- It is possible using procedures such as the chorionic villus sampling (CVS) and amniocentesis, to check for a gene mutation.

For infants born into carriers families that are known to be in Testing early ensures that the risk of bleeding is managed at birth.

Treatment for Hemophilia

Although there isn’t a universal cure for hemophilia but advances in medicine have made this disorder manageable. The most effective method of treatment for hemophilia can be described as the replacement treatment which involves the absence of hemocoagulation factor is introduced into the bloodstream to aid in the blood clot in a normal way.

Treatments include:

1. Therapy for replacement of the Clotting Factor :- Factor VIII (for Hemophilia A) or Factor IX (for Hemophilia B) is administered intravenously. It can be used in-demand (during periods of bleeding) and as a prophylactic (regular dosages that reduce bleeding).

2. Desmopressin (DDAVP) :- It is used in minor conditions that are not severe. Hemophilia A to trigger cells to release stored factor VIII.

3. Antifibrinolytic medications :- Stop clots from breaking down in areas such as the mouth, or following dental procedures.

4. Therapy with genes :- A new and exciting field, in which a functioning duplicate of the gene that is defective is introduced. Clinical trials have shown some success in decreasing the requirement for regular infusions.

5. Emicizumab (Hemlibra) :- A more recent treatment to restore the function of the deficient factor VIII, and is utilized to reduce the risk of developing in Hemophilia A sufferers.

Lifestyle Management and Preventive Care

Hemophilia is a condition that requires constant awareness and treatment. If you take the proper precautions and are proactive in treatment, patients can be free of any complications and enjoy high level of health.

Careful considerations include:

1. Regularly scheduled treatment and follow-ups :- Making sure you are up to date with preventative treatments can help reduce swelling episodes as well as joint injury.

2. Joint treatment :- Infrequent bleeding in joints can result in disabilities and arthritis. Regularly monitoring and physical therapy are crucial.

3. Prevention of injuries :- Beware of contact sports and activities that pose high risk of injury. Safety gear and protective equipment at school and at home are highly recommended.

4. Dental Health :- Dental health examinations can help are a way to prevent gum disease, which could cause bleeding. Be sure to inform the dentist about the problem prior to.

Monitoring and Aftercare

The post-treatment treatment care is vital to avoidance of complications. For some patients it is possible that the immune system will produce inhibitors (antibodies) which attack clotting factors that are infused, making treatment less efficient.

Monitoring and care should encompass:

Regular testing for inhibitors
Health assessments for joint health
Instruction in home care for parents and patients
Action plans for emergencies for surgery or trauma

Tips to Take to treat Hemophilia

By taking certain precautions, you can significantly reduce the possibility of complications and emergency situations:

Beware of NSAIDs such as Ibuprofen or aspirin as they can aggravate bleeding.
Use soft toothbrushes as well as electric razors prevents bleeding and cuts in your mouth and on skin.
Let all health care professionals including dentists and emergency response personnel about the condition prior to any treatment.
Make sure you have an ID card for medical purposes or bracelet Essential in the event of an emergency in which you are unable to communicate.

Conclusion

While hemophilia may seem overwhelming, advances in medical science awareness, education and prompt intervention has greatly increased the chances of survival for those suffering from the disease. With the right support with the correct treatment plan and routine surveillance, those suffering from hemophilia can lead full active, productive lives.

The ongoing research in the field of gene therapy as well as new treatments gives hope for a time when treating or even eradicating hemophilia is regular. Groups of support, advocacy groups, and educational resources are also helping patients and their families deal with the illness in a team.