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Risk, symptoms, diagnosis, and treatments for hemophilia

Hemophilia is a rare blood disorder that mainly affects the clotting function of red blood cells (RBC) in the body. RBCs have special clotting proteins (also referred to as clotting factors) that enable the cells to bind and harden, thus sealing off the wound to curb bleeding. Hemophilia results in a deficiency of these vital clotting factors and simultaneously increases the risk of spontaneous bleeding. The inability of the body to clot is mostly observed in pregnant women post-delivery, middle-aged adults, and seniors. However, the severity of the symptoms varies depending on several underlying health problems.

Main cause of hemophilia
This blood disorder is a genetic condition caused due to a unique mutation of the DNA structure. This triggers cells to behave abnormally due to the absence or low amount of clotting proteins. Men are at a higher risk of inheriting this genetic code in comparison to women. The inheritance pattern also differs depending on which parent is carrying the triggering chromosome.

Inheritance pattern
Men have one X and one Y chromosome, whereas women have two X chromosomes. Boys inherit one X chromosome only from their mother and one Y chromosome from their father. Girls inherit one X chromosome from each parent. Based on this inheritance pattern:

There is a 50% chance that the boy can develop hemophilia at a later stage
There is a 50% chance that the girl may only become a carrier of the mutated gene that gets passed to the next generation

Note the risk is always high in boys since they have just one copy of the X chromosome, the main gene that carries the mutation. Hemophilia A and B are the two distinct types of blood disorders caused due to the absence of clotting factor VIII and IX, respectively. Also note that a family history of hemophilia is not the sole cause of the condition. Statistics indicate about one-third of the total detected cases might not be inherited. Genetic predisposition is simply one of the known triggers.

Noticeable signs and symptoms
Excessive bleeding is one of the main indicators of this blood disorder. The risk of internal bleeding, additionally, may also result in the following discomforts.

Swelling, pain, and tightness in the elbow, knee, and ankle joints caused due to internal bleeding
Visible bruising of muscles that is a result of bleeding into the skin
Excessive blood loss in the mouth and gums as a result of dental problems
Bleeding post vaccinations
Frequent and uncontrollable nosebleeds
Blood in urine and stools

Complications that may develop with hemophilia
The blood disorder can result in further complications due to the damage it causes, including:

Swelling and pressure on nerves due to deep internal bleeding, resulting in numbness and pain in vital joints
Increased risk of arthritis due to excessive internal bleeding near the joints
Reaction to clotting factor treatment caused due to immune system responses that deactivate the artificial clotting factors

Diagnosis and treatment
The following screening and blood tests are recommended for hemophilia by medical professionals.

A Complete Blood Count (CBC) test to measure the amount of hemoglobin
A Fibrinogen Test is done to understand how efficiently the blood clot forms (varies from patient to patient)
An Activated Partial Thromboplastin Time (APTT) test done to quantify the delay in blood clotting function. Alternatively, a Prothrombin Time (PT) test can also be done to analyze the delay
Additionally, Clotting Factor assays are also done to identify the type of hemophilia

Post diagnosis, there are a few treatment options that one can explore. The severity of the condition and its symptoms determine the course of action.

Clotting factor replacement therapies done to replenish the proteins. There are also a number of medications that can preserve and prevent the clots from breaking.
For cases with excessive blood loss, doctors generally recommend blood transfusion of potent clotting protein-enriched RBCs.

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