Hemophilia in children and infants symptoms and treatment methods

Hemophilia in children and infants is a rare disorder that causes frequent bleeding and difficulty in blood clotting, which keeps parents constantly worried about their child. Early detection and proper management significantly help protect the child from complications and improve their quality of life. In this Dallily Medical article, we will discuss what hemophilia is in children and infants, its main symptoms, and how it is treated, so that every parent can understand the condition and manage it in a safe and healthy way.

Is hemophilia a genetic disease?
Yes, hemophilia is usually a genetic disorder, most often passed from a mother who carries the gene to her son.

Can a girl be born with hemophilia?
These cases are very rare because girls have a second X chromosome that compensates for the deficiency. However, if a girl inherits the gene from both her father and mother, she can develop hemophilia.

How can I know early if my child has hemophilia?
If your child has frequent nosebleeds, many unexplained bruises, or severe bleeding after vaccinations or losing a tooth, blood tests should be done to confirm the condition.

Can a child with hemophilia live a normal life?
Yes, with regular treatment and follow-up, a child can live a nearly normal life. However, special precautions are needed to avoid bleeding and injuries.

Is there a cure for hemophilia?
Currently, there is no definitive cure. However, replacement therapies and new gene treatments significantly improve the condition and help control bleeding.

Are vaccinations safe for children with hemophilia?
Yes, but they should be administered properly (under the skin instead of into the muscle) to reduce the risk of bleeding.

What activities are allowed for children with hemophilia?
Light sports such as swimming and cycling are allowed. However, contact or high-risk sports like football or wrestling should be avoided to prevent injuries.

Can hemophilia develop after birth?
Yes, but it is very rare. This type is called acquired hemophilia, which occurs when the child’s immune system produces antibodies that attack clotting factors, leading to a deficiency.

What is hemophilia in children?
Hemophilia in children is a rare bleeding disorder that makes blood take longer to clot, increasing the risk of bleeding, both external and internal. Children with hemophilia lack or have a deficiency of clotting factors, which are proteins essential for normal blood clotting.

This means that bleeding, especially inside joints like ankles, elbows, and knees, can cause damage to organs and tissues if left untreated.

Causes of hemophilia in children
It is mostly genetic, passed from the mother to the child through genes.

In rare cases, hemophilia can be acquired after birth, when the child’s body develops antibodies that attack clotting factors and prevent them from working properly.

Types of Hemophilia in Children

Hemophilia in children is classified according to the deficient clotting factor in the blood, and each type has its own characteristics:

1️⃣ Hemophilia A (Classical Hemophilia)

Cause: Deficiency or absence of clotting factor VIII (8).
Prevalence: The most common type (~80% of cases).
Symptoms: Frequent bleeding after minor injuries, large bruises, bleeding into joints and muscles.
Treatment: Factor VIII injections to replace the deficiency, sometimes continuous preventive therapy for children with severe cases.

2️⃣ Hemophilia B (Christmas Disease)

Cause: Deficiency or absence of clotting factor IX (9), sometimes called Christmas disease.
Prevalence: Less common than Hemophilia A (~15% of cases).
Symptoms: Similar to Hemophilia A, but usually slightly milder.
Treatment: Factor IX injections to replace the deficiency, used preventively or when bleeding occurs.

3️⃣ Hemophilia C

Cause: Deficiency of clotting factor XI (11).
Prevalence: Very rare, more common in certain populations such as Ashkenazi Jews.
Symptoms: Bleeding often occurs after surgeries or injuries, sometimes very mild with few symptoms.
Treatment: Usually does not require daily treatment; bleeding is treated as needed.

How is hemophilia diagnosed in children?

Diagnosis of hemophilia in children relies on careful clinical evaluation and laboratory tests. Early diagnosis is crucial to prevent complications and start treatment promptly. The main steps include:

1️⃣ Medical History and Clinical Examination

The doctor asks about family history: presence of repeated bleeding or hemophilia cases.
Observation of the child’s symptoms: frequent bruises, bleeding after minor cuts or vaccinations.

2️⃣ Initial Blood Tests

Bleeding time: Usually normal in hemophilia.
Prothrombin time (PT): Typically normal.
Activated partial thromboplastin time (aPTT): Often prolonged, which is a key indicator of hemophilia.

3️⃣ Advanced Tests to Determine the Type

Clotting factor measurement:
- Low factor VIII → Hemophilia A
- Low factor IX → Hemophilia B
- Low factor XI → Hemophilia C

4️⃣ Genetic Testing (DNA Test)

Used to confirm the diagnosis, especially in families with a history of hemophilia.
Can also help diagnose the condition in the fetus during pregnancy.

Summary:
Diagnosis mainly relies on clotting factor tests and coagulation time assessment. A clear family history allows for faster and more accurate diagnosis.

How do children inherit hemophilia?

Hemophilia A and B are linked to the X chromosome, meaning inheritance is sex-linked and recessive. Here’s how it works:

1️⃣ Basics: Chromosomes and Sex

Each person inherits an X chromosome from the mother and either an X or Y chromosome from the father.
X from mother + X from father → girl
X from mother + Y from father → boy

2️⃣ Carrier Mother

If a woman has an abnormal clotting factor gene on one X chromosome, she may not show symptoms because she has a normal X chromosome.
However, she can pass the defective gene to her children.

3️⃣ Inheritance Probabilities

If the mother gives birth to a boy, there is a 50% chance he will inherit the defective X chromosome and develop hemophilia.
If she gives birth to a girl, there is a 50% chance she will inherit the defective gene, but she usually will not show symptoms because she inherits a normal X from her father.

Summary:
Boys who inherit hemophilia from their mother are more likely to show symptoms, while girls are usually carriers and may pass the gene to future generations without showing symptoms themselves.

Stages of Hemophilia in Children

The stages or severity of hemophilia depend on the amount of clotting factor in the blood, which determines the intensity of symptoms and the risk of bleeding. They can be classified as follows:

1️⃣ Severe Hemophilia

Clotting factor level: Less than 1% of normal
Symptoms:
- Spontaneous or unexplained bleeding, especially in joints and muscles
- Large bruises and easy bleeding after minor injuries or injections
- Internal bleeding that can be dangerous and requires urgent medical attention

2️⃣ Moderate Hemophilia

Clotting factor level: Between 1% and 5% of normal
Symptoms:
- Bleeding after minor injuries or small cuts
- Prolonged bleeding after minor surgeries or tooth extraction
- Fewer bruises than in severe hemophilia

3️⃣ Mild Hemophilia

Clotting factor level: Between 5% and 40% of normal
Symptoms:
- Bleeding usually occurs after major injuries or surgeries
- Spontaneous bleeding is very rare
- Few bruises, usually after a noticeable injury

Complications of Hemophilia in Children

Complications depend on disease severity and clotting factor levels. Without proper treatment, serious problems can occur:

1️⃣ Frequent internal bleeding – often in joints (knees, elbows) or muscles, causing swelling and severe pain
2️⃣ Joint and bone damage – repeated bleeding damages cartilage, leading to deformity or stiffness over time
3️⃣ Chronic anemia – due to repeated blood loss, making the child constantly tired and weak
4️⃣ Bleeding in the brain – rare but very serious, can cause severe headache, seizures, loss of consciousness, or even death
5️⃣ Growth and mobility issues – ongoing pain and joint damage reduce the child’s activity and normal movement
6️⃣ Psychological and social problems – fear and anxiety about injuries, social isolation due to difficulty participating in normal activities

Treatment of Hemophilia in Children with Medications

Treatment depends on the type and severity of hemophilia. The main goal is to replace the missing clotting factors and prevent or control bleeding. Key treatment options include:

1️⃣ Replacement Therapy

The most important treatment for hemophilia.
Involves intravenous infusion of clotting factor concentrates:
- Hemophilia A → Factor VIII
- Hemophilia B → Factor IX
Usage:
- As needed during a bleeding episode
- Or regularly as preventive therapy (prophylaxis) to reduce bleeding, especially in severe cases

2️⃣ Desmopressin (DDAVP)

A synthetic hormone-like medication
Stimulates the body to release Factor VIII and von Willebrand factor
Often used for mild Hemophilia A, but not effective for Hemophilia B

3️⃣ Antifibrinolytic Medications

Examples: Tranexamic acid, Aminocaproic acid
Function: Prevent clot breakdown after formation

Very Useful for Bleeding in:

Mouth, nose, or after tooth extraction

4️⃣ Modern Treatments

Emicizumab (Hemlibra): A new medication for Hemophilia A
- Injected under the skin every 2 or 4 weeks
- Acts as a “bridge” to help clotting factors function properly
Emerging Treatments: Gene therapy and other new drugs are under development, potentially providing a long-term solution in the future

Surgical Treatment of Hemophilia in Children

In certain cases, surgery is necessary for children with hemophilia, especially if there is repeated internal bleeding or serious complications. Before, during, and after surgery, the child must receive Factor Replacement Therapy to reduce bleeding risk.

Main Types of Surgery for Children with Hemophilia:

1️⃣ Joint Surgery (Synovectomy)

Used for repeated joint bleeding causing cartilage damage or chronic inflammation
Goal: Remove the lining of the joint to reduce future bleeding

2️⃣ Bone or Joint Replacement Surgery

Applied in advanced cases with severe joint damage
Helps restore normal movement and reduce pain

3️⃣ Emergency Surgery for Acute Internal Bleeding

Examples: Brain or abdominal bleeding
Requires immediate intervention to save the child’s life

✨ Supportive Measures During Surgery:

High doses of clotting factors before, during, and after the procedure
Blood transfusion if bleeding is severe

⚠️ Important: Any surgery for a child with hemophilia must be performed in a specialized center with an experienced medical team to minimize risks and complications.

Potential Complications of Hemophilia in Children

Without careful monitoring and regular treatment, hemophilia can cause serious complications:

1️⃣ Frequent Internal Bleeding

Often in joints (knees, elbows, shoulders) or muscles
Causes severe pain and limited mobility

2️⃣ Joint and Bone Damage

Repeated joint bleeding wears down cartilage and stiffens the joint
Can lead to long-term disability

3️⃣ Brain Bleeding (Intracranial Hemorrhage)

One of the most dangerous complications
Symptoms: severe headache, seizures, repeated vomiting, or loss of consciousness
Life-threatening if not treated promptly

4️⃣ Chronic Anemia

Due to repeated blood loss
Causes fatigue and general weakness

5️⃣ Gastrointestinal or Urinary Bleeding

Bleeding in the stomach or intestines (blood in stool)
Kidney bleeding (blood in urine)

6️⃣ Psychological and Social Effects

Constant fear of bleeding affects the child’s daily activity
Can lead to anxiety or social isolation

Tips for Living with Hemophilia in Children
✅ Continuous Follow-Up with a Doctor

Regular visits to a hematology clinic to monitor clotting factor levels and ensure treatment effectiveness

✅ Adherence to Treatment

Take clotting factor injections or any supportive medications on the scheduled times.

✅ Careful Handling of Injuries

Avoid contact or high-risk sports.
Use helmets, knee pads, and elbow guards during physical activities.

✅ Proper Nutrition

Eat a healthy diet rich in iron and vitamins to strengthen the blood.
Limit fast food and carbonated drinks.

✅ Psychological Education for the Child

Explain the condition in a simple way so the child knows how to manage themselves and ask for help when needed.
Provide psychological support to prevent feelings of being different from others.

✅ Communication with the School