Hemophilia: A Bleeding disorder

Overview

What is Hemophilia?

Hemophilia is a rare inherited bleeding illness in which the body’s ability to create blood clots is impaired. Therefore, there is a higher chance of internal and protracted bleeding. Although females can occasionally carry the genetic mutation that causes this illness, males constitute most of those affected. Hemophilia is a chronic disorder that needs to be managed appropriately and cared for to reduce problems.

This article will discuss hemophilia’s types, causes, signs, complications, diagnosis, treatment options and outcome.

Symptoms

Symptoms of Hemophilia

Depending on how severe and how much clotting factor is present in a person’s blood, individuals who have hemophilia may exhibit a variety of symptoms, including:

• Bleeding lasts long, whether due to accidents, surgeries, or spontaneously.
• Bruising is easy and frequent as a result of unstable blood vessels.
• Bleeding into the joint results in swelling, pain, and restricted movement.
• Muscle bleeding can result in pain, swelling, and limited movement.
• Nosebleeds that are prolonged, frequent, or spontaneous.
• Gum bleeding is common and prolonged, especially after dental treatments or oral hygiene activities.
• Bleeding from vaccines or other shots¹Symptoms| Researched based study from Cdc.gov
• Baby’s head is bleeding during or following a challenging delivery.
• Urine or feces containing blood.

Types

Hemophilia types

Based on the onset of hemophilia, they can be

• Congenital
• Acquired

Congenital hemophilia

Hemophilia is commonly inherited from parents, which implies that the illness is present at birth.

The following two forms of congenital hemophilia are the most prevalent ones, and they are categorized according to the type of clotting factor that is lacking or defective:

• Hemophilia A
• Hemophilia B

Hemophilia A

• It is the most common type and is also referred to as Classic hemophilia.
• A lack or decrease in clotting factor VIII causes it.²Types| Researched based study from Nlm.nih.gov

Hemophilia B

• It is the second most common type and is also referred to as Christmas disease.
• A lack or decrease in the clotting factor IX causes it.³Types| Researched based study from Medlineplus.gov

There is also Hemophilia C

• Which is also referred to as Rosenthal syndrome and is a more uncommon type of hemophilia.
• A lack or malfunction of clotting factor XI brings on this condition⁴Types| Researched based study from Clevelandclinic.org

Acquired hemophilia

• Acquired hemophilia can suddenly develop in persons with no family history of the condition when their clotting factor VIII or IX in the blood gets attacked by their immune system.
• It may be related to cancer, autoimmune disorders, or adverse drug reactions.

Causes

Hemophilia causes

• Hemophilia is a genetic disorder transmitted from a parent to their offspring.
• It is brought on by a shortage or dysfunction of specific clotting factors in the blood, which work with platelets to create clots.

The Genetics of Hemophilia

• A person’s genes contain the information to create proteins like factor VIII and factor IX.
• These genes have mutations in hemophilia patients, and as a result, the body produces insufficient factor VIII or IX.
• The defective gene is mostly found on the X chromosome.
• Y chromosomes do not contain any clotting factor genes.⁵Causes| Researched based study from Cdc.gov
• Every individual inherits two sex chromosomes from their parents.
• Females get one X chromosome from their mother and inherit the other one from their father.
• Males get their Y chromosome and X chromosome from their fathers and mothers, respectively.
• Hemophilia is therefore almost invariably a boy’s disease and is passed down through the mother’s gene.
• Most female carriers of the damaged gene are asymptomatic, however, some of them may experience symptoms if their clotting factors are slightly reduced.

Risk factors

Factors responsible for Hemophilia

• Hereditary – People are at a higher risk to get hemophilia if one or both of their parents or a family member have the condition.
• Gender – Men are more affected than women by hemophilia.
• Age – Newborns are more prone than adults to develop hemophilia. Older persons are more likely to have acquired hemophilia.
• Medical conditions – like cancer, autoimmune disorders, postpartum bleeding, liver diseases, trauma, etc., can increase a person’s risk of developing acquired hemophilia.
• Medicines – like blood thinners, interferon alpha, and certain antibiotics may increase the risk of bleeding⁶Risk factors| Researched based study from Nhlbi.nih.gov

Diagnosis

Hemophilia diagnosis

A healthcare practitioner will perform a thorough medical history, physical examination, and a few tests if hemophilia is suspected, followed by the diagnosis.

Physical examination

The doctor may:

• Search for petechiae or other bruises as indicators of a bleeding issue.
• Look for indications of any illnesses that may lead to bleeding issues.
• Check for indicators of other medical diseases that can generate similar symptoms.
• Look for signs of consequences from bleeding, such as swelling or sore joints.
• Monitor breathing, blood pressure, and heartrate.
• Use a stethoscope to hear heart sounds.

Laboratory tests

Blood tests – used to determine the amount of blood clotting factors and determine the kind and severity of hemophilia.

• Complete blood count (CBC) – to count and analyze blood cells.
• Prothrombin time test (PT) – to examine the speed at which the blood clots.
• Fibrinogen test – aids doctors in evaluating a patient’s blood clotting capacity⁷Diagnosis| Researched based study from Cdc.gov
• Activated partial thromboplastin time test – to check the time taken for the blood clot formation.
• Tests for specific clotting factors – display the concentrations of particular clotting factors, such as factor 8 and factor 9, and help demonstrate the degree and type of hemophilia.
• Genetic testing – to pinpoint the genetic mutation causing the condition⁸Diagnosis| Researched based study from Nhlbi.nih.gov

Treatment

Treatment of Hemophilia

Although hemophilia has no known treatment, there are several strategies to manage the condition and avoid consequences, including the following:

Medicines

• Antifibrinolytic drugs – such as tranexamic acid, help stop blood clots from dissolving.
• Birth control tablets – to alleviate women’s severe menstrual bleeding.
• Desmopressin (DDAVP) – a human hormone, can encourage the body to make more clotting factors and cure mild hemophilia bleeding⁹Treatment| Researched based study from Mayoclinic.org
• Immunosuppressive drugs – like prednisone, may help suppress antibody formation in acquired hemophilia due to auto immune conditions.
• Vitamin K tablets – to alleviate bleeding due to vitamin K deficiency.

Factor replacement therapy

• Raises the blood’s levels of the clotting factor that is lacking.
• Both human blood donations and other technologies can be used to manufacture clotting factors.
• An effective way to stop or manage bleeding episodes is through regular infusion of clotting factor concentrates¹⁰Treatment| Researched based study from Nhlbi.nih.gov

Gene therapy

• It aims at reversing the genetic mutation that caused hemophilia.
• This allows the body to manufacture the missing clotting factors by introducing functional genes.
• Although it is currently in the early stage, gene therapy has shown encouraging results and could one day provide a potential cure for hemophilia.

Lifestyle changes and home remedies

Hemophiliacs can manage their disease and lower their risk of bleeding by doing the following actions in addition to medical treatment:

• Regular check-ups – with a specialist at a hemophilia treatment facility or a doctor are necessary to track clotting factor levels, evaluate general health, and handle any issues.
• Physical activity – Regularly doing low-impact, muscle-strengthening exercises can lower the chance of bleeding and enhance general physical health.
• Prevent injury – reducing the likelihood of bleeding episodes can be accomplished by taking preventative measures, such as wearing safety gear while participating in sports.
• Dental care – It’s essential to practice proper oral hygiene and to inform the dentist about the presence of hemophilia. Additional safety measures could be required when performing dental treatments to reduce bleeding.
• Medication management – People with hemophilia must collaborate closely with their healthcare team. They should adhere to suggested treatment regimens, ensure a sufficient supply of clotting factor concentrates, and be mindful of possible drug interactions or side effects.
• Bleeding management – Hemophiliacs and their caretakers should be taught basic first aid and have access to the tools they need, such as bandages and clotting medications, to effectively control bleeding.

Prevention of Hemophilia

• Hemophilia is a genetic disorder and cannot be prevented. However, people with hemophilia may undergo genetic testing to determine whether they might pass it on to their offspring.

Complications

Hemophilia related Complications

The following complications could arise from hemophilia:

• Internal bleeding can develop swellings that pressure the nerves, resulting in numbness or discomfort.
• Blood transfusion-related viral diseases such as Hepatitis C and HIV.
• A negative response to therapy with clotting factor.
• Bleeding into the neck, impairing breathing.
• Permanent joint damage.
• Fractures of bones¹¹Complications| Researched based study from Nlm.nih.gov
• Arthritis

Prognosis

Prognosis of Hemophilia

Hemophilia is a complex genetic condition that necessitates lifetime management and care. Hemophiliacs can live happy lives and lower their risk of problems with the proper diagnosis, treatment, and preventive measures. If patients respond well to treatment and don’t have any other health issues, their life expectancy now is approximately the same as that of the general population in developed nations. We can enable people with hemophilia and their families to overcome the difficulties presented by this condition and have a higher quality of life by increasing awareness and offering support.