7 Lesser-Known Symptoms of Hemophilia: Blood In Stool And Other Warning Signs To Look Out For

Uncover some of the hidden signs of Hemophilia, including blood in the stool among several other red flags to keep an eye out for.

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Written By: Satata Karmakar | Updated : May 19, 2024 3:03 PM IST

Haemophilia, a genetic ailment causing trouble for the blood in clotting correctly, is relatively rare. Despite its low occurrence, there are multiple facets about this disorder that are often overlooked and deserve our attention.

Predominantly a hereditary disease, haemophilia primarily strikes males. It is the outcome of clotting factor deficiency, particularly Factor VIII (Haemophilia A) or Factor IX (Haemophilia B). The short supply of these factors causes bleeding for an extended period and hurdles in forming clots, leading to severe consequences if left untreated. In an exclusive interaction with TheHealthSite.com, Dr. Rajesh Jaria, Consultant Internal Medicine, P.D. Hinduja Hospital & MRC, Khar, shared the various unknown facts about this condition and its management strategies.

Different Types of Haemophilia

Haemophilia is a genetic disorder, passed via an X-linked recessive pattern, resulting in the disorder primarily affecting males and making females carriers. Two main types of haemophilia:

  1. Haemophilia A - caused by deficiency of clotting factor VIII, and
  2. Haemophilia B - caused by deficiency of clotting factor IX.

What Causes Haemophilia?

The root cause is identified as a mutation in one of the genes providing instructions for making clotting factors. The disorder results in a deranged ability of blood to clot, causing an easy bruising and excessive bleeding. The latter can either occur spontaneously or after an injury. Additionally when it occurs it will be a prolonged bleeding from cuts or injuries, nosebleeds, blood in the urine or stool, and joint pain or swelling from bleeding into a joint.

7 Lesser-Known Symptoms of Hemophilia

Here are some of the most uncommon signs and symptoms of haemophilia:

Blood in Stool

Spotting blood in one's stool doesn't commonly come to mind when thinking about hemophilia.

Swelling and Pain in Joints

Hemophiliacs might incessantly endure pain and swelling in joints, typically noticeable in load-bearing joints, like knees, elbows, and ankles.

Extended Nosebleeds

Occasional nosebleeds are ordinary and inconsequential. But, hemophiliacs often undergo extended and repetitive nosebleeds due to defective blood clotting.

Blood in Urine

Hematuria, i.e., blood-tinged urine, is another hemophilia symptom that should be taken seriously.

Severe Exhaustion

Hemophiliacs often experience persistent sluggishness, a shared yet neglected symptom. Fatigue can potentially result from anemia due to chronic blood loss or other interconnected ailments.

Idiosyncratic Bruising

While easy bruising is common with hemophilia, don't dismiss bruises that pop up on unusual or non-traumatic body parts. Unexplained bruises on the tummy, back, or thighs might be noting hidden internal bleeding and require immediate medical intervention.

Headaches

Frequent headaches and alteration in vision due to bleeding within the brain or eyes can be a part of the hemophiliacs' life.

7 Ways To Treat Haemophilia

Treatment for haemophilia typically involves replacement of missing clotting factor through injections on a need basis for bleeding episodes or as a preventative measure (eg: pre-surgery). In severe cases, patients require regular infusions of clotting factor to prevent bleeding episodes. Newer therapies now available are

Desmopressin in some forms of mild haemophilia, can stimulate the body to release more clotting factor.

  1. Novoeight or Advate are recombinant factor VIII, which can be administered to treat factor VIII Deficiency.
  2. Emicizumab (Hemlibra). A new drug that doesn't include clotting factors but helps prevent bleeding in Haemophilia A patients.
  3. Clot-preserving medications - anti fibrinolytics.
  4. Fibrin sealants.
  5. Physical therapy.
  6. Roctavian, an adeno-associated virus vector-based gene therapy for the treatment of adults with severe haemophilia A without pre-existing antibodies to adeno-associated virus serotype 5
  7. Recombinant factor IX therapy is the recommended treatment for individuals with haemophilia B. Currently available recombinant factor IX product in India is Factocel IX

Haemophiliacs need to take care of a few things such as

  1. Avoiding activities with increased risk of injury / bleeding eg: contact sports.
  2. Maintaining a healthy weight with an exercise routine to keep joints strong and reduce risk of bleeding
  3. Use caution when taking medications that increase risk of bleeding. (eg: aspirin or blood thinners)
  4. Keep regular appointments with haemophilia specialist to monitor clotting factor levels and overall health.
  5. Individuals with haemophilia should wear medical alert bracelets or carry cards indicating their condition in case of emergencies.

There is no specific diet regimen for haemophilia, but it is important to maintain a balanced and healthy diet to support overall health and well-being. This includes eating a variety of fruits, vegetables, whole grains, lean proteins, and healthy fats. It may also be beneficial to incorporate foods rich in vitamin K, such as leafy green vegetables, which can help promote blood clotting.

Genetic counselling is recommended in individuals with a family history of haemophilia - to determine the risk of passing the disorder on to future generations. Support groups and resources are available, for education, advocacy, and emotional support.

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