Haemophilia: Symptoms, Causes, Diagnosis & Treatment

Haemophilia: Symptoms, Causes, Diagnosis & Treatment

Haemophilia occurs due to a deficiency in plasma coagulation factors, most frequently factors VIII and IX. These factors are available from human donors but carry the risk of transferring viral infections. Blood transfusion is an option for treating severe hemorrhage.

Haemophilia is a sex linked recessive disorder which is transmitted from an unaffected carrier female to some of the male progeny. In haemophilia, a single protein that is a part of a cascade of proteins involved in the clotting of blood is affected. Due to this, a small cut can lead to a non-stop bleeding in an affected individual. Greater concern is when the bleeding can damage organs and tissues, and may be life-threatening.

Bleeding into a joint can result in permanent damage while bleeding in the brain can result in headaches, seizures, or a decreased level of consciousness.

There are two main types of haemophilia including haemophilia A (due to not enough clotting factor VIII) and haemophilia B (due to not enough clotting factor IX). Acquired haemophilia is related with cancers, autoimmune disorders and pregnancy. Diagnosis is done by testing the blood for its ability to clot and its levels of clotting factors.

It is estimated that Haemophilia A affects about 1 in 5,000–10,000, while haemophilia B affects about 1 in 40,000, males at birth. As haemophilia A and B are both X-linked recessive disorders, females are rarely affected.

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How Does Haemophilia Affect Your Body?

Haemophilia causes bleeding and bruising which can lead to internal bleeding and painful swelling of the joints. Septic arthritis occurs more frequently in people with Haemophilia. Abdominal bleeding and digestive problems are concerns in people with Haemophilia. Severe bleeding can cause skin discoloration, pain, and swelling under the skin.

What Are The Causes of Haemophilia?

  • Haemophilia is a sex-linked recessive disease i.e., a female carrier can pass this disease to her child (boy). For a girl to be haemophilic, both mother and father should be carriers which is rare as the male carrier often dies before attaining puberty.
  • Acquired Haemophilia is rare and occurs when a person’s immune system attacks clotting factors in the blood. It can be associated with pregnancy, autoimmune disorders, cancer and others.

What Are The Risk Factors of Haemophilia?

  • Sex – Haemophilia, both A and B are more common in males than females because of genetic transmission.
  • Family history – congenital Haemophilia is the biggest risk factor.
  • Age – People over 60 years are at risk of acquired Haemophilia.
  • Diseases – Autoimmune disorders, inflammatory bowel disease, diabetes, hepatitis, pregnancy, postpartum, or malignancy may increase the risk of acquired Haemophilia.
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What Are The Symptoms of Haemophilia?

Symptoms of spontaneous bleeding include:

  • Unexplained bleeding from cuts or injuries, or after surgery or dental work
  • Many large or deep bruises
  • Unusual bleeding after vaccinations
  • Pain, swelling or tightness in your joints
  • Blood in your urine or stool
  • Nosebleeds without a known cause
  • In infants, unexplained irritability
  • Bleeding into the brain

Symptoms of severe Haemophilia:

  • Painful, prolonged headache
  • Repeated vomiting
  • Sleepiness or lethargy
  • Double vision
  • Sudden weakness or clumsiness
  • Convulsions or seizures
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How is Haemophilia Diagnosed?

  • A family history of Haemophilia can help determine during pregnancy if the fetus is affected by Haemophilia.
  • Blood test – A blood test in children and adults can reveal a clotting-factor deficiency.
  • Some people learn they have Haemophilia after they bleed excessively during a surgical procedure.
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How To Prevent And Control Haemophilia?

Haemophilia cannot be prevented as it is transferred from a carrier female to her child. There’s no way of knowing whether the baby has the condition.

However, in in vitro fertilization, there’s a chance of knowing it.

Treatment of Haemophilia– Allopathic Treatment

  • Replacement Therapy – Replacement clotting factor can be made from donated blood and inserted in the recipient.
  • Desmopressin (DDAVP) – In mild Haemophilia, this hormone can stimulate the body to release more clotting factor.
  • Physical therapy – This can ease signs and symptoms if internal bleeding has damaged the joints.
  • Vaccinations – If you have Haemophilia, consider receiving immunization against hepatitis A and hepatitis B.

Medications-

  • Hemlibra – This medicine can help prevent or reduce the frequency of bleeding episodes in adults and children with Haemophilia A. Hemlibra works by bridging the gap in the clotting factors left by the missing factor VIII.
  • Adynovate – This is used to replace clotting factor VIII to help prevent and control bleeding in adults and children with Haemophilia A.
  • Idelvion – It is a coagulation factor IX (recombinant), albumin fusion protein, used to help control and prevent bleeding in children and adults with Haemophilia B.
  • Obizur – It is a form of clotting factor VIII derived from pigs which stops bleeding episodes in people with acquired Haemophilia A. This rare form of the disease is not inherited.
  • Anti-fibrinolytic – These medications help in preventing clots from breaking down.
  • Fibrin sealants – These medications promote clotting and healing.
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Treatment of Haemophilia- Homeopathic Treatment

The medicines like Lachesis, Crotalus Horridus, Phosphorus, Millifolium and Ipecacunha when potentised (a unique process of making medicines in homeopathy to arouse the hidden medicinal properties of the medicine) help in tackling bleeding in haemophilia. These are known to stimulate the factors in the blood vessels in order to facilitate the healing process and stop bleeding.

  • Arnica – This is prescribed for haemorrhages, a condition arising from injuries, falls, blows and contusions.
  • Carbo veg – This is given for coldness, haemorrhage from any mucous surface.
  • Lachesis – Lachesis is prescribed for marked haemorrhagic tendency and bluish purplish appearance.
  • Millefolium – This is prescribed for haemoptysis, nosebleed and bleeding haemorrhoids.
  • Phosphorus – Haematogenous jaundice, blood extravasations are improved by phosphorous.

Haemophilia – Lifestyle Tips

  • Exercise regularly. Avoid contact sports like football.
  • Avoid certain pain medications.
  • Avoid blood-thinning medications.
  • Practice good dental hygiene.
  • Protect the child from injuries that could cause bleeding.

What Are The Recommended Exercises For a Person With Haemophilia?

  • Swimming
  • Table Tennis
  • Walking
  • Fishing
  • Dancing
  • Badminton
  • Sailing
  • Golf
  • Bowling
  • Cycling

Haemophilia & Pregnancy – Things to Know

  • Pregnant haemophilia carriers may have mild bleeding symptoms due to reduced clotting factor levels in their blood. It is important to know if the pregnant woman is a carrier in order to have a safe pregnancy.
  • Levels of factor VIII increase significantly during pregnancy which reduces the risk of bleeding in Haemophilia A carriers. However, factor IX levels do not rise during pregnancy and precautions should be taken during labor to reduce the risk of excessive bleeding.
  • Pregnant carriers should avoid factor concentrates made from plasma because they may transmit parvovirus B19 that may cause, albeit rarely, the baby to develop severe anaemia and a miscarriage.
  • Alternatives such as desmopressin, antifibrinolytic agents, or recombinant factor concentrates may be prescribed.

Common Complications Related to Haemophilia

  • Deep internal bleeding.
  • Damage to joints.
  • Infection
  • Adverse reaction to clotting factor treatment.

FAQs

Q. What is the difference between Haemophilia A and Haemophilia B?

A. Patients with Haemophilia A do not have enough clotting factor VIII (factor eight). In Haemophilia B patients, not enough clotting factor IX (factor nine) is formed.

Q. Is Haemophilia lifelong disease?

A. Level of factor VIII or factor IX in the blood usually stays the same and the person will have Haemophilia for life.

Q. What is acquired Haemophilia?

A. Acquired Haemophilia is caused by the development of antibodies to factor VIII or factor IX i.e., the body’s immune system destroys its own naturally produced factor VIII.

Q. Do aspirin and other non-steroidal anti-inflammatory drugs (NSAIDs) need to be avoided?

A. Haemophilia patients should avoid these medicines because they interfere with the stickiness of platelets and can make bleeding problems worse.


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