Hemophilia: Hemophilia is a group of inherited bleeding ailments that induce abnormal or exaggerated bleeding and poor blood clotting. The hemophilia types are hemophilia A, which occurs due to not enough clotting factors of 8, and hemophilia B, which occurs due to not enough clotting factor IX. Hemophilia A and B are distinguished by the particular gene that is mutated and codes for a defective clotting factor (protein) in each disease.
Rarely, hemophilia C, which occurs due to not enough clotting factor XI, but its effect on clotting is far less pronounced than A or B.
Hemophilia A and B are inherited in an X-linked recessive genetic pattern and are consequently much more common in males. This pattern of bequest means that a given gene on the X chromosome expresses itself, particularly while there is no normal gene present. For instance, a boy possesses only one X chromosome, so a boy amidst hemophilia has the defective gene on his single X chromosome (hemizygous for hemophilia). Hemophilia is the most prevalent X-linked genetic disease.
Although it is significantly rarer, a girl can become hemophilia, but she would have to have the faulty gene on both of her X chromosomes or have one hemophilia gene plus a lost or defective copy of the second X chromosome that should be bearing the normal genes. If a girl possesses one copy of the defective gene on one of her X chromosomes and a normal second X chromosome, she does not hold hemophilia but is supposed to be heterozygous for hemophilia (a carrier). Her male children become a 50% chance of receiving the one mutated X gene and thus become a 50% chance of receiving hemophilia from their carrier mother.
Hemophilia A happens in approximately 1 out of every 5000 live male births. Hemophilia A and B occur in all national groups. Hemophilia A is approximately four times more common than B. B happens in approximately 1 out of 20- 30,000 live male births.
Hemophilia A, also called factors of 8 hemophilia, is a genetic disorder caused by defective factor VIII, a clotting protein. Although it is transferred from parents to children, about 1/3 of cases are caused by a spontaneous mutation, a change in a gene.
According to the US Centers for Disease Control and Prevention, hemophilia happens in roughly 1 in 5,000 live births. There are about 20,000 people with hemophilia in the US. All races and ethnic groups are affected. Hemophilia A is four times as common as hemophilia B while more than half of patients with hemophilia A have the severe form of hemophilia.
Hemophilia Causes ( Hemophilia A )
The X and Y chromosomes are designated sex chromosomes. The gene for hemophilia is transmitted on the X chromosome. Hemophilia is acquired in an X-linked recessive behaviour. Females inherit two X chromosomes, one of their from mother and one of their from father (XX). Males receive an X chromosome of their from mother and a Y chromosome of their from father (XY). That indicates if a son inherits an X chromosome conducting hemophilia from his mother, he will possess hemophilia. It also signifies that fathers cannot transfer hemophilia on to their sons.
But the daughters possess two X chromosomes, indeed if they inherit the hemophilia gene of their from mother, most probably they will inherit a healthy X chromosome of their from father and not have hemophilia. A daughter who acquires an X chromosome that carries the gene for hemophilia is called a carrier. She can carry the gene on to her children. Hemophilia can occur in daughters but is uncommon.
For a female carrier, there are four viable consequences for each pregnancy-
- A boy without hemophilia
- A boy with hemophilia
- A girl who is not a carrier
- A girl who is a carrier
For a father with hemophilia, there are four viable consequences for each pregnancy-
Severity of Hemophilia
Severe- represent approximately 60% of cases
Moderate-represent approximately 15% of cases
Mild- represent approximately 25% of cases
Hemophilia Symptoms (Hemophilia A)
People with hemophilia A symptoms frequently bleed prolonged than other people. Bleeds can transpire internally, into joints and muscles, or externally, of minor cuts, dental methods or trauma. How often a person bleeds and the sharpness of those bleeds depends on how much factors of 8 is in the plasma, the straw-coloured fluid portion of blood.
Normal plasma levels of factors of 8 range from 50% to 150%. Levels below 50%, or half of what is needed to form a clot, determine a person ’s hemophilia symptoms.
Mild hemophilia A Symptoms – 6% up to 49% of factor VIII in the blood. People with mild hemophilia A symptoms generally endure bleeding only after serious injury or trauma. In several instances, mild hemophilia is not diagnosed until an injury, surgery or tooth removal issues in prolonged bleeding. Women with mild hemophilia usually experience menorrhagia, oppressive menstrual periods, and can haemorrhage following childbirth.
Moderate hemophilia A Symptoms-1% up to 5% of factor VIII in the blood. People amidst moderate hemophilia A symptoms tend to have bleeding episodes following injuries. Bleeds that happen without obvious reason are called spontaneous bleeding episodes.
Severe hemophilia A Symptoms- <1% of factor VIII in the blood. People with severe hemophilia A experience bleeding after an injury and may become frequent spontaneous bleeding episodes, frequently in their joints and muscles.
A medical history is essential to better determine hemophilia diagnosis if other relatives diagnosed with a bleeding ailment or have endured symptoms. Tests that evaluate clotting time and a patient’s ability to form a clot may be ordered. A clotting factor test, designated an assay, will conclude the type of hemophilia and its severity.
The main hemophilia medications to treat hemophilia A has concentrated factors of 8 product, called clotting factor. Recombinant factor products, which are developed in a lab by the application of DNA technology, preclude the use of human-derived pools of donor-sourced plasma. And while plasma-derived factors of 8 products are still available, almost 75% of the hemophilia community needs a recombinant factor VIII product.
These factors of 8 therapies are infused intravenously within a vein in the arm.
Patients with severe hemophilia may be on a regular treatment regimen, to maintain sufficient clotting factor in their bloodstream to limit bleeds. Medical and Scientific Advisory Council of the National Hemophilia Foundation suggests prophylaxis as optimal therapy for kids with severe hemophilia A.
DDAVP (desmopressin acetate) is the synthetic variant of vasopressin, a natural antidiuretic hormone that stimulates stop bleeding. In sufferers with mild hemophilia, it can be utilized for joint and muscle bleeds, for bleeding in the nose and mouth, and before and following surgery. It comes in an injectable mode and a nasal spray.
Aminocaproic acid inhibits the breakdown of blood clots. It is usually recommended for dental procedures, and to manage nose and mouth bleeds. It is used orally, as a tablet or liquid. MASAC suggests that a dose of clotting factor be taken first to form a clot, later aminocaproic acid, to preserve the clot and restrain it from being broken down prematurely.
Hemophilia B is a blood clotting disorder characterized by a mutation of the factor IX gene, leading to a deficiency of factor IX, that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing.
Most children with hemophilia B are born with the disorder of factor IX, although it can acquire later in life.
Hemophilia B Causes
Hemophilia B is induced by a deficiency of a protein in your blood called factor IX, which is required for normal blood clotting. While a blood vessel is damaged, a blood clot is formed to seal wounds and breaks at the site of injury to obstruct the bleeding. Because of the lack of factor IX, a person with hemophilia B is incapable to form blood clots normally, commencing to the prolonged bleeding and easy bruising seen in this condition.
Factor IX is 1 such coagulation factor. Hemophilia B is induced by an inherited X-linked recessive trait, with the faulty gene located on the X chromosome.
Females hold 2 copies of the X chromosome. If the factor IX gene on 1 chromosome does not work, the gene on another chromosome can perform the job of making adequate factor IX.
Males hold only 1 X chromosome. If the factor IX gene is missing on a boy’s X chromosome, he will become Hemophilia B. For this purpose, most characters with hemophilia B are male.
If a woman becomes a defective factor IX gene, she is acknowledged a carrier. This means the faulty gene can be carried down to her children. Boys born to such have a 50% risk of having hemophilia B. Their daughters become a 50% chance of happening a carrier.
Hemophilia Symptoms(Hemophilia B)
Mild hemophilia B
Mild hemophilia B is not recognized until there is unusual bleeding after an injury, surgery.
Moderate hemophilia B
People with moderate hemophilia B tends to result in bleeding episodes after injuries, hemophilia B may also have casual bleeding episodes—bleeds that happen without obvious cause.
Severe hemophilia B
People with severe hemophilia can have bleeding after a mild injury and may endure frequent uncontrollable bleeding episodes, frequently in the joints and muscles.
Hemophilia Diagnosis(Hemophilia B)
The diagnosis of hemophilia B can be done –
- Bleeding scores
- Coagulation screening test
- Coagulation factor assays
The differential diagnosis: hemophilia A, factor XI deficiency, fibrinogen disorders, von Willebrand disease and Bernard-Soulier syndrome.
Hemophilia B Treatment
The main hemophilia medication to treat hemophilia B is concentrated factor IX product. Recombinant DNA technology, restrain the employment of human-derived pools of donor-sourced plasma. And while plasma-derived factor IX products are yet accessible, nearly 75% of the hemophilia community takes a recombinant factor IX product.
These factor IX therapies are infused intravenously through a vein in the arm.
Patients with severe hemophilia may recommend prophylaxis as optimal therapy for children with severe hemophilia B.
Aminocaproic acid is an antifibrinolytic, inhibiting the breakdown of blood clots.
Hemophilia C is low levels of factor XI. Factor XI plays an important role in tissue factor-dependent thrombin generation on the surface of activated platelets.
Hemophilia C is also known as the plasma thromboplastin antecedent deficiency or Rosenthal syndrome.Hemophilia C is linked with bleeding, but it diverges from hemophilia A and B in several ways.
In terms of hemophilia C medication, cyklokapron is frequently used for both treatments after an episode of bleeding and as a preventative means to evade excessive bleeding through oral surgery.
Treatment is habitually not necessary, but in relation to operations, leading to many of those becoming the condition not being conscious of it. In these circumstances, fresh frozen plasma or recombinant factor XI may be practised, but only if required.
Hemophilia Treatment Centers
During 1973, the National Hemophilia Foundation started a two-year campaign to build the creation of a nationwide network of hemophilia treatment centres & diagnosis hemophilia. Now, there are approximately 141 federally funded hemophilia treatment centres and programs across the country.
The concept of overall care is to treat the entire person and the family, throughout continuous supervision of all the medical and psychosocial perspectives of bleeding disorders. Comprehensive care is inclusive care because every phase of the person is marked, including their emotional, physical, psychological, educational, financial and vocational factors. The hemophilia treatment centres care network has also improved the patient’s overall health.
Hemophilia treatment centres are located in cities across the United States. Each hemophilia treatment centres provides access to multidisciplinary health care professionals include-Lab medical technologists and pathologists, Hematologists, Orthopedics, Physical therapists, Dentists, Nurses, Social workers and other mental health professionals and other specialists available by referral.
Hemophilia can be mild, moderate, or severe, depending on the clotting factor is in an affected person’s blood. Nevertheless, approximately 70% of patients become a severe form of the disorder.
Amidst proper education and treatment, people with hemophilia can live full and productive lives. Prophylaxis and early treatment should dramatically improve the long-term hemophilia prognosis for people with severe disorder. Replacement therapy has significantly improved life expectancy and improved quality of life. Approximately 25% of people with the severe disease between 6-18 years of age do have below-normal motor skills than others.
The most notable life-threatening complications of hemophilia are bleeding within the skull and haemorrhages into the soft tissue such as the airway or internal organs.
Overall, the mortality rate for affected people is approximately twice that of the healthy male group. For severe hemophilia, the percentage is around 4-6 times higher.