Hemophilia

Overview

Hemophilia is a relatively rare condition, often inherited, that impairs the blood’s ability to clot effectively, elevating the likelihood of bleeding and bruising.

Hemophilia occurs when the body produces insufficient quantities of clotting factors, which are proteins necessary for blood clot formation. These proteins collaborate with platelets to initiate the clotting process, thereby regulating bleeding. Reduced levels of clotting factors heighten the risk of bleeding episodes. With hemophilia, individuals may experience prolonged bleeding after an injury compared to those with normal blood clotting.

Minor cuts are generally not a cause for concern. However, individuals with a severe form of hemophilia face a greater risk of internal bleeding, particularly in areas like the knees, ankles, and elbows. Internal bleeding can harm organs and tissues, posing a potential threat to life.

This condition is typically addressed by replacement of the deficient clotting factor. Emerging treatments that do not include clotting factors are also being utilized.

Symptoms

The main symptoms of hemophilia is abnormal bleeding and bruising, which can be excessive. Symptom varies depending on the severity of hemophilia: individuals with severe cases might encounter spontaneous bleeding, whereas those with mild forms may bleed excessively, especially following significant injuries or surgeries.

Other signs and symptoms include:

• Numerous sizable or deep bruises.
• Bleeding may occur without an obvious cause, such as sudden nosebleeds.
• Bleeding for extended periods, whether it is after surgery, dental procedures, or a simple cut.
• Abnormal bleeding following immunizations.
• Joint pain, swelling,or tightness.
• Blood in the stool or urine

Severe hemophilia rarely leads to life-threatening bleeding in the brain. Although rarely, a simple hit on the head can result in brain bleeding. Symptoms of brain bleeds may include persistent headaches, double vision, or excessive sleepiness.

In some cases, male babies identified as having hemophilia may be diagnosed when they bleed excessively after circumcision. Symptoms may also become apparent a few months after birth. Common indicators in infants include:

• Unusual bleeding
• Presence of hematomas.
• Swollen lumps on the head
• Fussiness, irritability, or a reluctance to crawl or walk

If any of the signs and symptoms is observed, particularly heightened bleeding or bruising, it is advisable to consult a healthcare provider for proper diagnosis and treatment.

Immediate medical attention is imperative if one experiences severe headaches or double vision, as these symptoms could signal bleeding in the brain. An injury characterized by continuous bleeding that fails to cease. Joints exhibiting swelling, warmth upon touch, and discomfort when flexed.

Causes

Specific genes produce clotting factors. Clotting factors, which are proteins in the blood, collaborate with platelet cells to initiate clot formation to stop the bleeding. Inherited hemophilia occurs when genes providing instructions for normal clotting factors undergo mutations, resulting in the production of abnormal or insufficient clotting factors.

• Hemophilia inheritance: Everyone inherits one set of chromosomes from their mother and another set from their father. Hemophilia is often passed from mothers to sons due to the inheritance of an X chromosome from the mother. The father’s contribution of either an X or a Y chromosome determines the assigned sex at birth. Most carriers, who are usually women with the defective gene, show no symptoms, but some may experience bleeding issues if their clotting factors are moderately reduced.
• Congenital hemophilia: Congenital hemophilia is categorized based on the specific clotting factor that is deficient. The most prevalent form is hemophilia A, characterized by a low level of factor 8, followed by hemophilia B, which is associated with a low level of factor 9. Hemophilia is typically a congenital condition, meaning it is inherited from birth.
• Acquired hemophilia: This is often linked to various factors such as pregnancy, autoimmune conditions, cancer, multiple sclerosis, and reactions to certain drugs. In this variant, the person’s immune system targets clotting factor 8 or 9 in the blood. Acquired hemophilia is a form of the condition that can occur in individuals without a family history of hemophilia.

Risk factors

Hemophilia primarily impacts men. In rare cases, women may experience symptoms if their clotting factor levels are significantly low, leading to conditions such as unusually heavy menstrual periods.

However, the most significant risk factor for hemophilia is having family members with the disorder, emphasizing its genetic nature and familial predisposition.