Hemophilia is a rare but serious bleeding disorder in which the blood does not clot properly due to the absence or low levels of specific clotting factors. People with hemophilia can bleed longer after an injury, and in severe cases, they may bleed spontaneously into joints or muscles. Diagnosing hemophilia early is crucial to prevent complications and ensure timely treatment.
Timely diagnosis is not just important, it is life saving. Early detection allows for prompt treatment, helps prevent irreversible joint damage, and significantly reduces the risk of complications such as intracranial hemorrhage. Moreover, diagnosing hemophilia early enables families to make informed decisions about genetic counseling and family planning, particularly if there’s a known history of the condition.
What Is Hemophilia?
Hemophilia is typically an inherited disorder, meaning it is passed down from parents to children through genes. There are two main types: Hemophilia A, which involves a deficiency in clotting factor VIII, and Hemophilia B, caused by a deficiency in clotting factor IX. Both types interfere with the body’s ability to stop bleeding effectively.
While hemophilia is mostly found in males due to its X-linked recessive inheritance, females can be carriers and occasionally experience symptoms as well.
Why Diagnosis Matters?
Early diagnosis of hemophilia is essential. Without timely detection, individuals are at higher risk for prolonged bleeding episodes, joint damage, anemia, and in severe cases, life-threatening internal bleeding. Diagnosis not only helps manage and treat the condition effectively but also allows for genetic counseling, family planning, and awareness for potential carriers within the family.
When Should Hemophilia Be Suspected?
Symptoms of hemophilia can vary depending on the severity of the disorder. In some cases, symptoms may be apparent shortly after birth, while in milder forms, they may not appear until later in life.
Common signs that may lead to suspicion of hemophilia include :-
- Frequent and unexplained bruising
- Excessive bleeding after vaccinations, injuries, or surgeries
- Bleeding into joints causing swelling and pain (especially in elbows, knees, and ankles)
- Blood in urine or stool
- Nosebleeds that are difficult to stop
- Prolonged bleeding after dental procedures
In babies, persistent bleeding after circumcision may be the first indicator. For older children and adults, repeated joint bleeds or easy bruising could prompt testing.
Diagnosis of Hemophilia
Diagnosis of hemophilia typically involves a series of blood tests designed to measure how well the blood clots and whether specific clotting factors are present in adequate amounts.
- Initial Blood Tests :- Doctors usually begin with general clotting tests such as :-
- Complete Blood Count (CBC) :- To rule out other causes of bleeding or bruising.
- Activated Partial Thromboplastin Time (aPTT) :- Measures how long it takes blood to clot. It is prolonged in hemophilia.
- Prothrombin Time (PT) :- Often normal in hemophilia but helps rule out other clotting disorders.
- Fibrinogen Test :- Assesses the presence of fibrinogen, a protein needed for clotting.
If the aPTT is prolonged and other causes are excluded, doctors proceed to more specific tests.
- Clotting Factor Assays :- The most definitive test for diagnosing hemophilia is the clotting factor assay. This test measures the activity level of clotting factor VIII (for Hemophilia A) or factor IX (for Hemophilia Depending on the level of deficiency, hemophilia is classified as :-
- Mild :- 5%–40% of normal clotting factor
- Moderate :- 1%–5%
- Severe :- Less than 1%
This test confirms both the presence and severity of the disorder, which is vital for treatment planning.
- Genetic Testing :- If hemophilia is suspected to be inherited, genetic testing may be recommended. This can :-
- Identify the specific mutation in the clotting factor gene
- Determine if female relatives are carriers
- Assist with prenatal diagnosis during pregnancy
Genetic testing is especially important in families with a known history of hemophilia. In some cases, prenatal testing (via chorionic villus sampling or amniocentesis) can detect hemophilia before birth.
Diagnosing Hemophilia in Newborns and Infants
Hemophilia can sometimes be diagnosed at birth, especially if there is a family history. If a male baby has a known family risk, doctors may perform a cord blood clotting factor test immediately after delivery. However, in the absence of a family history, diagnosis may be delayed until bleeding symptoms appear.
Parents should remain observant for signs like swelling or bruising from minor bumps, prolonged bleeding from teething or cuts, or unexplained crying due to joint or muscle bleeds.
Diagnosing Hemophilia in Females
Though rare, females can develop hemophilia, especially if both of their X chromosomes carry the gene mutation, or if one is mutated and the other is inactive due to skewed X-chromosome inactivation.
Women may experience :-
- Heavy menstrual bleeding
- Prolonged bleeding after childbirth or surgeries
- Frequent nosebleeds or easy bruising
Clotting factor assays and genetic testing are used for diagnosis in such cases. Many women may only be identified as “symptomatic carriers” unless their factor levels are significantly low.
Challenges in Diagnosing Mild Hemophilia
Mild hemophilia can sometimes go undetected for years. It may only be discovered after a surgical procedure or dental work leads to unusual bleeding. People with mild hemophilia may have near-normal clotting in everyday situations, so blood tests may be postponed unless a bleeding issue arises.
Hence, it’s important for healthcare providers to take a detailed personal and family history when unexplained bleeding is reported, even if symptoms are infrequent.
Importance of Family Screening
Once hemophilia is diagnosed in an individual, it’s recommended that other family members, especially siblings and potential carriers, undergo testing. This is particularly helpful in planning for childbirth, medical procedures, and reducing the risk of unexpected bleeding events.
Genetic counseling helps families understand inheritance patterns and future reproductive choices. Carriers can be identified early and monitored if needed.
Conclusion
Hemophilia is a lifelong condition, but with early diagnosis and proper treatment, individuals can lead active and fulfilling lives. Diagnosis involves a combination of clotting tests, factor assays, and, when necessary, genetic testing. Recognizing symptoms early especially in infants or children with a family history can prevent joint damage, internal bleeding, and other serious complications.
