Hematology and Oncology
Hemophilia is a genetic disorder caused by mutations of genes that are transferred to the next generations. Type A and type B are the most common types, but type C and parahemophilias are also part of the classification.
Hemophilia Type A: It is the most common type of hemophilia, also known as classic hemophilia, and is caused by a deficiency of factor VIII. It is an X-linked recessive disorder which means that the mutated gene is located on the non-dominant X chromosome and is expressed only if this X-chromosome is transferred in a male baby.
Hemophilia Type B: It accounts for 20% of the cases and is caused by a deficiency of factor IX. It is also an X-linked recessive disorder and is often called Christmas disease.
Hemophilia Type C: It is an autosomal genetic disorder that can affect males and females both and is caused by the deficiency of factor XI.
Parahaemophilia: This is a mild type that can be inherited or acquired and happens due to decreased levels of factor V.
Acquired hemophilia: Some diseases like cancers or autoimmune diseases can develop antibodies against the clotting factors resulting in the clotting problems often referred to as acquired hemophilia.
The genes responsible for the production of clotting factors VIII and IX are present on the X chromosome only. Every female has two X chromosomes, one is dominant, and the other is recessive. The mutated gene is located on the recessive chromosome, which means a female can only be a carrier of the defected gene. The genetic constitution of males consists of an X and a Y chromosome. If the only X chromosome male has is mutated, he will have hemophilia. This is the reason why only males can have hemophilia. Very rarely, females can show only mild symptoms of the disease. Rarely can hemophilia happen by a new spontaneous mutation. Family history is not present in such cases.
Haemophilia A accounts for 1 case every 5,000–10,000 births, while hemophilia B occurs in about 1 per 40,000 males. In the USA, 400 babies are born with hemophilia every year. Haemophilia C affects both sexes equally and is more prevalent in Ashkenazi Jews.
The most crucial factor that can increase your chances of having hemophilia is a family history of the disorder. It almost exclusively affects males. Rarely the presence of some cancers or autoimmune diseases can predispose you to have the condition.
You may have various degrees of symptoms attributed to the levels of clotting factors present. You may have a mild illness leading to excessive bleeding only after surgery, a deep cut, or a severe disease that can result in serious internal and external bleeding upon minor trauma or spontaneously.
You may show the following signs and symptoms;
· Prolonged bleeding from wounds, or after a dental procedure or a surgery
· Multiple bruises
· Weakness and palpitations due to anemia
· Pain, swelling, or stiffness in your joints
· Coughing up blood
· Blood in urine
· Unexplained frequent nosebleeds
· Infants can show unexplained irritability and difficulties in walking due to joint problems
· Internal bleeding in the brain can lead to headaches, vomiting, vision problems, or seizures
· Internal bleeding in the gut can cause tummy ache, bloody vomiting, blood in stool
Hemophilia can exhibit itself in early life. Children can have bruises and bleeding when they start to walk and bump into objects or after minor injuries during play or particularly after a circumcision. Upon suspicion of the symptoms, contact your physician. He would inquire questions regarding your or the child's symptoms, duration, family history, etc., and would perform physical examinations to check for the signs of bleeding, bruises, joint swelling, etc.
For the confirmation of the diagnosis, some laboratory tests may need to be performed;
Blood tests
Complete blood cell count
Coagulation studies ( [PT], [aPTT])
Factor VIII and factor IX assays
The mild, moderate, and severe disease is described as follows;
1. Mild hemophilia: 5%-30% of the normal levels of clotting factors present.
2. Moderate hemophilia: 1%-5% of the normal amount of clotting factors available
3. Severe hemophilia: less than 1% of the normal clotting factors present.
Genetic testing
In cases of family history, other family members may be offered genetic testing. Genetic testing is also provided to the couple getting married to evaluate and counsel for the disorder.
Imaging studies
The organs system affected can be evaluated through imaging studies like ultrasound, CT scan of the brain or joints, MRI scan of the head, spinal cord, joint, etc.
Hemophilia is a long-term disease with no cure. The treatment goals are to manage the bleeding episodes, replace the clotting factors, provide ancillary medicines, and bestow rehabilitation and support.
Replenishing the deficient clotting factors:
1. Clotting factors can be provided with blood concentrate made from donated human blood after testing for transmissible infectious diseases like HIV and hepatitis, etc.
2. Recombinant clotting factors are not extracted from human blood. Instead, they are manufactured in the laboratory.
Other therapies:
Desmopressin (DDAVP®) is an artificial hormone that helps to release the clotting factors in the blood. It can be given to people with mild forms.
Antifibrinolytics are medicines that stabilize the clots so that they don’t break off. For example, tranexamic acid or Aminocaproic acid.
Several studies and research is in progress to find a genetic cure for hemophilias with a promising future.
The outlook of the disease depends on the severity of the disease and the treatment provided. With proper treatment, patients with hemophilia can have a near-normal life span of approximately ten years less than that of an average life span of an unaffected male.
Without treatment, people may not reach maturity and have a considerably short life expectancy. Deaths may occur due to massive brain bleed, hepatitis leading to cirrhosis, and transfusion-related infections (HIV).
Hemophilia can not be prevented as it is an inherited disorder. However, certain lifestyle changes can be made to help you cope with the disease;
· Try to protect yourself from injuries by walking carefully, avoiding reckless sports or activities, etc.
· Perform exercise regularly, such as walking, cycling, swimming, etc.
· Avoid medicines that can increase the risk of bleeding. Talk to your doctor about a list of such medicines. For example, pain killers such as aspirin and ibuprofen. Blood-thinning medications- heparin, warfarin, clopidogrel, etc.
· Maintain good dental hygiene to avoid gum and tooth disease.
· Get yourself vaccinated for hepatitis B and C to prevent the risk of contracting transfusion-related infections.
· People around you or your child should know about your disease and be supportive and cautious at the same time. You might be given a medical alert bracelet.
· Join support groups with people sharing the same disease.
· Don’t hesitate to talk to a therapist if you feel depressed or sad.
Our clinical experts continually monitor the health and medical content posted on CURA4U, and we update our blogs and articles when new information becomes available. Last reviewed by Dr.Saad Zia on May 20, 2023.
WFH Guidelines for the Management of Hemophilia, 3rd edition - Srivastava - 2020 - Haemophilia - Wiley Online Library
Hemophilia is a rare disorder of blood clotting most commonly inherited. In this disease, the blood does not clot normally after an injury due to the deficiency of clotting factors (substances that help the blood clot), and it takes longer for the bleeding to stop. The severity ranges from mild to severe. Bleeding into the joints can occur spontaneously or upon minor trauma, leading to joint destruction. Easy bruising and bleeding into other organs, especially the brain, can be life-threatening. It almost always affects males and appears early in life. It is managed by replacing the clotting factors and avoiding reckless activities that can lead to trauma.