Hemophilia is a rare genetic bleeding disorder that prevents blood from clotting properly. It is caused by a mutation in one of the genes that produce clotting factors – substances that enable blood to clot and stop bleeding. There are two main types of hemophilia: hemophilia A, caused by a deficiency in clotting factor VIII, and hemophilia B, caused by a deficiency in clotting factor IX. Individuals with hemophilia experience prolonged or excessive bleeding, even from minor injuries. Without treatment, severe hemophilia can be crippling or even fatal. So when do the first symptoms of this condition typically appear?
When Do Symptoms of Hemophilia A Appear?
Hemophilia A is the more common form of the disorder, accounting for about 80% of cases. In individuals with severe hemophilia A, symptoms often appear before the age of 2:
- Excessive bleeding from circumcision shortly after birth
- Prolonged bleeding from the umbilical cord stump
- Large bruises, hematomas, or excessive bleeding after vaccinations
In moderate cases of hemophilia A, symptoms may appear later, between the ages of 2-5 years. Children in this age group may experience:
- Frequent and severe nosebleeds
- Prolonged bleeding from minor cuts or dental procedures
- Unexplained and large bruises
- Blood in urine or stool
Mild hemophilia A may go undiagnosed until later in life when excessive bleeding occurs after surgery, trauma, or a dental procedure. However, close review of a person’s medical history will often show earlier symptoms such as easy bruising in childhood.
When Do Symptoms of Hemophilia B Appear?
Hemophilia B symptoms also typically appear in early childhood but are generally milder compared to hemophilia A.
In babies with severe hemophilia B, the first bleeding symptoms usually occur between 3-6 months of age. These can include:
- Bleeding into joints and soft tissues
- Excessive bleeding following circumcision
- Prolonged bleeding from vaccinations or venipuncture sites
In moderate cases, symptoms appear between 6-24 months and include:
- Bruising easily
- Nosebleeds
- Prolonged bleeding from minor cuts
Mild hemophilia B may go undiagnosed until later in childhood when excessive bleeding occurs after surgery or trauma.
How Do Symptoms Progress with Age?
Without adequate treatment, symptoms of hemophilia tend to worsen and become more noticeable as children get older and become more active. Typical symptoms at various ages include:
Toddler Years (1-3 years old)
- Bruising easily
- Bleeding into soft tissues and joints
- Prolonged bleeding from minor cuts, scrapes or nosebleeds
- Blood in urine or stool
Preschool Years (3-5 years old)
- Bleeding into joints and muscles leading to pain and stiffness
- Bleeding for longer than 10-15 minutes from minor cuts
- Excessive bleeding following dental procedures or losing teeth
- Unexplained irritability or discomfort that may signal bleeding
School Years
- Bleeding into joints and muscles causing chronic joint pain and mobility issues
- Heavy bleeding into soft tissues, muscles, or internal organs after injury or impact
- Prolonged bleeding from nose, mouth, gums, or GI tract
- Heavy menstrual periods in adolescent females
Without prophylactic treatment to prevent bleeding episodes, the damage from repeated bleeds into joints and soft tissues results in a decreased quality of life and permanent disabilities.
What Factors Influence Symptom Severity?
The age at which symptoms appear and their severity depends on several key factors:
The amount of clotting factor deficiency – Symptoms tend to appear earlier and be more severe in those with clotting factor levels <5% of normal. Type of mutation – Some genetic mutations result in more unstable clotting factors with shorter half-lives, leading to earlier onset.
Bleeding phenotype – Some patients tend to bleed more extensively than others with similar factor levels.
Activity level – Those who are more rambunctious or active have a higher chance of bleeds and injury.
Preventive treatment – Prophylactic IV infusion of clotting factor concentrate prevents most bleeds.
When Should Someone Be Evaluated for Hemophilia?
Hemophilia should be suspected if any male has a history of:
- Prolonged bleeding from circumcision, vaccinations, or venipuncture in infancy
- Bruising easily or excessive bruising
- Frequent and prolonged nosebleeds
- Heavy bleeding following dental procedures
- Prolonged menstrual bleeding in females
- Unexplained joint pain, swelling, or stiffness
- Blood in urine or stool
- A known family history of hemophilia
Females who are carriers of the genetic mutation often have normal clotting factor levels. However, they can experience excessive menstrual bleeding, easy bruising, or abnormal bleeding after childbirth, surgery, or dental work.
Any male or female infant with unexplained bleeding or bruising should be promptly evaluated by a pediatric hematologist to rule out a potential bleeding disorder. Early diagnosis allows preventive treatment to avoid joint and soft tissue damage.
Diagnostic Tests
A definitive diagnosis of hemophilia requires specialized blood tests, including:
Complete blood count (CBC) – Rules out low platelet count or other blood disorders.
Prothrombin time (PT) – Assesses coagulation factors produced by the liver.
Activated partial thromboplastin time (aPTT) – Screens for deficiencies in factors VIII, IX, or XI. A prolonged aPTT indicates hemophilia.
Mixing studies – The patient’s plasma is mixed with normal plasma. Failure to correct a prolonged aPTT confirms a clotting factor deficiency.
Factor assays – Measures the specific level or activity of factors VIII and IX. Levels <40% are diagnostic of hemophilia A or B.
Genetic testing
Identifies the specific mutation in the gene for factor VIII or IX. Useful for confirming diagnosis, counseling families, and prenatal testing.
These blood tests allow specialists to confirm a diagnosis of hemophilia A or B and determine disease severity based on clotting factor levels. Prompt and accurate diagnosis is key to provide appropriate treatment and prevention of complications.
How is Hemophilia Treated?
While there is no cure for hemophilia, treatments are available to reduce bleeding episodes and prevent joint damage:
Clotting factor replacement therapy – Intravenous infusion of clotting factor VIII or IX to prevent bleeds (prophylaxis) or stop active bleeding (on-demand therapy).
Non-clotting factor therapies – Emicizumab or other bypassing agents mimic the role of factors VIII or IX.
Adjunct medications – Antifibrinolytics like tranexamic acid help stabilize clots. Desmopressin induces factor VIII release.
Orthopedic care – Joint surgery or synovectomy may be needed to treat damaged joints. Physical therapy helps maintain mobility.
Lifestyle modification – Activity should be modified to avoid injury-prone sports and impacts. Protective gear helps prevent trauma.
With current treatments, most people with hemophilia are able to live long, active, and fulfilling lives. The key is early diagnosis, routine prophylactic therapy, and comprehensive care from a hemophilia treatment center.
Prognosis and Outcomes
When treated properly, individuals with hemophilia can have a normal life expectancy. However, complications can arise:
- Joint disease – Repeated bleeds into joints causes progressive arthritis called hemophilic arthropathy.
- Inhibitors – Up to 30% of patients develop antibodies against factor replacement therapy.
- Blood-borne infections – Before viral inactivation, blood products transmitted HIV and hepatitis.
- Intracranial hemorrhage – Bleeding into the brain is the most serious complication, often fatal.
With current treatments, most complications can be prevented or managed. The prognosis for children diagnosed early and receiving prophylaxis is excellent. Life expectancy is now approaching that of males without hemophilia.
Conclusion
Hemophilia symptoms typically appear early in life, often in infancy or toddler years. However, mild cases may go undetected until later childhood when trauma or a surgical procedure leads to prolonged bleeding.
Early diagnosis and prophylactic treatment is key to preserve joint function and prevent disability. Comprehensive care from a hemophilia treatment center allows most patients to enjoy an excellent quality of life.
While hemophilia remains incurable, current therapies like clotting factor replacement and bypassing agents offer safe and effective prevention and treatment of bleeding episodes. The prognosis for children born today with hemophilia is very hopeful, allowing them to live active and fulfilling lives. Through continued research and therapeutic innovation, the care and outlook for hemophilia patients will only continue to improve.
