Home / Diseases & Conditions / Haemophilia – An inherited bleeding disorder

Haemophilia – An inherited bleeding disorder

Haemophilia is a genetic disorder, it is characterised by absence of clotting of blood and continuous bleeding. It is a dangerous and life threatening problem. It occurs mostly in males and very rare in females. Read about inherited bleeding disorder.

Haemophilia is a X linked recessive gene therefore males are more likely to suffer from haemophilia than females due to the presence of one single X chromosome whereas females carry 2 X chromosomes. Therefore females act as carriers who pass the defective gene to the next generation.

Queen Victoria was a carrier and passed the mutation to her son Leopold and through several of her daughters to members of the royal families of Spain, Russia, and Germany.

There are three types of haemophiliaHaemophilia – An inherited bleeding disorder

  1. Haemophilia A is a deficiency in Factor VIII
  2. Haemophilia B is a deficiency in Factor IX.
  3. Haemophilia C is an autosomal genetic disorder (i.e. not X-linked) involving a lack of functional clotting Factor XI. Haemophilia C is not completely recessive, as heterozygous individuals also show increased bleeding.

The blood clotting mechanism is a series of cascade reactions which involves many clotting factors that generate fibrin which together with platelets stops bleeding and forms a mesh near the bleeding area. If any one of the clotting factors is deficient it leads to haemophilia.

Signs and symptoms

The symptoms of haemophilia can be mild to severe, depending on the level of clotting factors you have. Most cases are mild, but people with severe haemophilia experience symptoms, which require ongoing care.Haemophilia – An inherited bleeding disorder

Some of the signs of haemophilia are, large bruises, bleeding into muscles and joints, spontaneous bleeding, and bleeding for a long time after a cut or surgery.

People with severe haemophilia often experience internal bleeding. This usually occurs around the joints and muscles, causing pain and stiffness. It can also lead to joint damage over time.

Treatment

Although there’s no cure for haemophilia, treatment usually allows a person with the condition to enjoy a good quality of life.

In recent decades, genetically engineered clotting factor medications have been developed to prevent and treat prolonged bleeding. These medications are given as an injection, the timing of which depends on how severe the condition is. Injections are usually only given in milder cases in response to prolonged bleeding, whereas more severe cases are treated with regular injections to prevent bleeding.

Related Posts

  • Causes Of Bleeding During PregnancyCauses Of Bleeding During Pregnancy #Pregnancy #bleeding #causesofbleeding Bleeding during the pregnancy might panic you as it can be the sign of miscarriage. Although, it does not […]
  • Gangrene – Cell death or necrosisGangrene - Cell death or necrosis is a condition in which the body tissue dies due to lack of blood supply caused due to infection or any physical trauma or any chronic health affecting […]
  • Beriberi – thiamine (vitamin B1) deficiencyBeriberi is a disorder caused due thiamine or vitamin B1 deficiency, a deficiency disease marked by inflammatory or degenerative changes of the nerves, digestive system, and heart. It was […]
  • Cataract- An eye disorderCataract- an eye disorder caused due to clouding of the lens. This clouding of lens is very slow and forms gradually due to this it is difficult to know the signs and symptoms. Due to […]
  • Edema- Accumulation of fluid in tissuesEdema is a condition in which the fluid accumulates and appears to be as a soft smooth bulge when touched forms a pit or dent on the body. The fluid is accumulated in the interstitium […]
  • Early Warning Signs Of Stroke Heart attacksAwareness towards the healthy body and life has been on the rise at present. People are paying serious attention towards the various factors that affect normal life. Some of serious health […]
  • Keloid- an outgrowth of scar repairing tissueKeloids are firm, rubbery lesions or shiny, fibrous nodules, and can vary from pink to the colour of the patient's flesh or red to dark brown in colour. A keloid scar is benign and not […]
  • Vitiligo – A pigment disorder of skinVitiligo - A pigment disorder of skin #melanin #melanocyte #pigment #skin #vitiligo Vitiligo is a skin pigment disorder in which melanin pigment is absent therefore white patches develop […]
  • Diabetes mellitus type 2 also called as non insulin-dependent diabetes mellitus or adult-onset diabetesDiabetes 2 is serious metabolic disorder faced by huge population of the world. It is the most common type of diabetes in adults. The increase in number of individuals with diabetes is […]

Check Also

Seven common causes of neck pain

Seven common causes of back neck pain

Neck pain will cause due to some reasons. Something as natural as sleeping in the …

Skip to toolbar