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Haemophilia - Myths vs. Fact and Diagnosis
Pathology
Mon Aug 07 2023
Haemophilia is generally a genetic bleeding disorder wherein blood fails to clot adequately. It can cause sudden bleeding and even bleeding followed by injuries or surgery. Blood consists of multiple proteins known as clotting factors that can stop the bleeding.
At Manipal TRUtest, we understand the importance of a critical disease like Haemophilia and the impact it has on the lives of people living with Haemophilia. Haemophilia is a rare genetic disorder that affects the blood's ability to clot. This means that even a small injury can cause excessive bleeding, which can be life-threatening if not treated promptly.
People living with Haemophilia face unique challenges in their daily lives, including the need for regular monitoring of their condition, the management of bleeding episodes, and the importance of avoiding injuries that could trigger bleeding. At Manipal TRUtest, we offer a range of diagnostic testing to support people with Haemophilia and their families.
People with Haemophilia require regular testing to monitor their condition and ensure that they are receiving the appropriate treatment. Here are some of the most common tests that are recommended for people with Haemophilia:
Factor level testing: It consists of Factor VIII & Factor IX testing. This test measures the amount of clotting factor in the blood. Factor levels are an essential indicator of how well your treatment is working and help determine the appropriate dose of factor replacement therapy. Factor VIII & IX help to categorize mild, moderate & severe Haemophilia.
Bleeding time test: This test measures the time it takes for a small cut to stop bleeding. People with Haemophilia usually have a prolonged bleeding time, and this test can help your healthcare provider assess your bleeding risk and make adjustments to your treatment plan.
Complete Blood Count (CBC): This test measures the number and quality of blood cells in your body. A CBC can help identify any changes in your blood that may indicate a complication, such as an infection or inflammation.
Inhibitor testing: Inhibitors are antibodies that can develop in response to factor replacement therapy. Inhibitors can reduce the effectiveness of treatment and increase the risk of bleeding. Inhibitor testing is done periodically to monitor the presence of inhibitors in your blood.
Joint imaging: People with Haemophilia are at risk of developing joint damage and arthritis due to repeated bleeding into the joints. Imaging tests, such as X-rays, ultrasounds, or CT Scans/ MRIs, can help your healthcare provider assess the extent of joint damage and develop a treatment plan.
It is important to work closely with your healthcare provider to determine which tests are necessary and how frequently they should be performed. Regular testing is essential to manage Haemophilia effectively and ensure that you are receiving the best possible care.
Myths VS Facts
Myth: Those with Haemophilia will bleed to death if they suffer a cut.
Fact: The truth is that not all bleeds are life-threatening. People with Haemophilia may experience bruising or bleeding into their muscles and joints, which can cause long-term damage if it happens frequently.
Myth: Everyone with Haemophilia will become disabled.
Fact: People with Haemophilia may avoid frequent joint bleeds and long-term joint damage if they receive proper preventative (prophylactic) treatment.
Myth: Children with Haemophilia always have a family history of Haemophilia.
Fact: Haemophilia is generally hereditary, one-third of cases appear to rise individually.
Myth: All types of Haemophilia involve a clotting factor VIII deficiency.
Fact: The most common form of Haemophilia is Haemophilia A, caused by a lack of clotting factor VIII. Haemophilia B is caused by a deficiency in factor IX, while a deficiency causes Haemophilia C in factor XI.
Myth: Almost every Haemophilia patient has similar symptoms.
Fact: Symptoms of Haemophilia A vary depending on factor VIII
Myth: Haemophilia A improves over time.
Fact: Haemophilia A is a lifelong bleeding disorder caused by a lack of clotting factor VIII, which does not improve with age.
Myth: People with Haemophilia are unable to participate in sports.
Fact: Those with Haemophilia can participate in various sports, including swimming and running, with proper treatment, but rough contact sports are usually not recommended.
Myth: Only boys and men are affected by Haemophilia.
Fact: Haemophilia gene is linked to chromosome X. Most Haemophilia patients are men. Haemophilia can affect women also, but it is uncommon.
Myth: People with Haemophilia live for a short time.
Fact: People with Haemophilia today can expect to live a near-normal life expectancy if they can manage their Haemophilia properly, life expectancy is only about 10 years less than healthy men.
Myth: Haemophilia can be cured with iron, specific vitamins, and peanuts.
Fact: Haemophilia has no known cure at present. Replacement therapy for the missing clotting factor VIII and non-factor replacement therapies are currently being used.
Myth: People with Haemophilia only have external bleeds, such as those caused by a cut or graze.
Fact: People with Haemophilia can also experience internal bleeding in their elbow, ankle, and knees.
At Manipal TRUtest, the paramedics provide optimum diagnosis and test reports with excellence and accuracy. To get Haemophilia tested, you can opt for the following tests:
- Complete blood count (CBC): Providers use this test to measure and study blood cells.
- Prothrombin time (PT) test: Providers use this test to see how quickly your blood clots.
- Activated partial thromboplastin time test: This is another blood test to time blood clot formation.
- Specific clotting factor test(s): This blood test show levels of specific clotting factor levels - Factor VIII and Factor IX
We look forward to serving you to ensure a world replete with wellness and vitality.
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Symptoms of murine typhus often begin gradually, typically around 7-14 days after exposure. The early signs are flu-like, making it easy to confuse with common viral infections. Key symptoms may include:
- High Fever: Sudden onset of fever, often with chills.
- Headache: A persistent, throbbing headache that can last for days.
- Body and Muscle Aches: Widespread pain and soreness in the muscles and joints.
- Rash: Small, red spots may develop, beginning on the trunk and spreading to limbs.
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In more severe cases, if not treated promptly, murine typhus can lead to complications such as pneumonia, liver or kidney damage, or central nervous system involvement.
Diagnosing Murine Typhus
Diagnosing murine typhus can be difficult since symptoms overlap with several other illnesses, including viral infections like dengue and flu. Here are some recommended diagnostic tests to confirm a murine typhus infection:
- Blood Tests: A complete blood count can help detect abnormalities in white blood cells and platelets, which may suggest infection.
- Serology Testing: Testing for antibodies specific to Rickettsia typhi can confirm a recent or active infection. However, antibodies may take some time to appear in the blood.
- Polymerase Chain Reaction (PCR): PCR tests on blood samples can detect the DNA of Rickettsia typhi, making it one of the most reliable methods for early detection.
- Immunohistochemical Staining: This test, typically done on tissue samples, can identify bacterial presence in the body.
Treatment and Recovery
Once diagnosed, murine typhus is typically treated with antibiotics, most commonly doxycycline. Early treatment is important to reduce the duration and severity of symptoms. Those who receive prompt treatment usually recover within a few weeks, though lingering symptoms like fatigue may persist for some time.
Prevention Tips
Preventing murine typhus mainly involves minimizing exposure to fleas and animals that might carry them. Here are some practical prevention steps:
- Limit Exposure to Rodents: Maintain a clean environment to discourage rodent infestations.
- Use Flea Control Products: Pet owners should use flea control treatments on animals to reduce the risk of fleas entering the home.
- Wear Protective Clothing: When spending time outdoors or in areas with rodents, wear long sleeves and pants to minimize exposure.
- Keep Living Spaces Clean: Regularly clean and vacuum to prevent flea infestation indoors.
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Breakthrough Eye Scanner Detects Diabetes, Heart Disease, and Alzheimer's Disease
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The Eye’s Role in Detecting Health Issues
The new scanners are based on advanced ophthalmoscope technology, which has been enhanced to provide incredibly detailed images of the eye’s interior. By observing the tiny blood vessels at the back of the eye, researchers can identify signs of health problems like diabetes and hypertension. The scanner can even detect the movement of red blood cells, allowing for a clearer understanding of how diseases affect blood flow within the eye.
While the technology used in these scanners was originally developed for astronomy to reduce atmospheric distortion in telescopic images, scientists have adapted it to examine the human eye. This transformation has allowed the researchers to observe the eye with such precision that they can identify early biomarkers for diseases that are otherwise difficult to diagnose until later stages.
Artificial Intelligence Enhancing Early Diagnosis
Artificial intelligence (AI) plays a critical role in this breakthrough. By processing the images captured by these scanners, AI can quickly analyse and interpret data, leading to faster and more accurate diagnoses. This could potentially reduce the time it takes to detect diseases and start treatment, improving patient outcomes. The integration of AI is expected to further enhance the technology’s ability to detect not just the well-known health conditions like diabetes, but also rarer diseases such as sickle cell anaemia and Alzheimer's.
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Rising Scrub Typhus Cases in Shimla: Two More Deaths at IGMC, Toll Reaches Four
Two more people have tragically lost their lives to scrub typhus at a hospital in Shimla, bringing the total death toll from the disease at the facility to four. The two recent victims were a 17-year-old from Mandi and a 25-year-old from Kullu. Despite being admitted several days earlier for treatment, their conditions worsened, and they passed away on Tuesday.
The earlier deaths included an elderly patient from Mandi and another from Shimla. This has caused growing concern in the region, where scrub typhus cases appear to be on the rise. Medical professionals are urging the public to remain vigilant and seek medical help promptly if they experience any related symptoms.
What Is Scrub Typhus?
Scrub typhus is a bacterial infection caused by Orientia tsutsugamushi and is spread through the bite of infected mites, known as chiggers. It is most common in areas with dense vegetation, especially in rural regions where tall grass, weeds, and undergrowth are prevalent.
The disease can be difficult to diagnose because its initial symptoms resemble those of many common viral infections. However, scrub typhus can become serious if not treated promptly, leading to complications like organ failure or even death.
Symptoms to Watch For
Medical experts have highlighted several warning signs that should prompt immediate medical attention. These include:
- High fever
- Severe joint pain and body stiffness
- General body aches
- Swollen lymph nodes, often appearing as painful lumps, particularly under the arms
- Neck infections
Anyone who has spent time in areas with dense or overgrown vegetation and experiences these symptoms should seek a doctor's advice right away. Early detection is key to successful treatment, and neglecting the symptoms could lead to more severe health issues.
Recommended Tests for Scrub Typhus
Doctors suggest specific tests for confirming a scrub typhus diagnosis, as symptoms alone can be misleading. Some of the commonly recommended tests include:
- Blood tests: To detect antibodies or other signs of infection.
- Weil-Felix test: A traditional method to identify rickettsial infections, including scrub typhus.
- PCR test: This can confirm the presence of scrub typhus bacteria through DNA detection.
Early testing and diagnosis can help prevent serious complications and ensure timely treatment.
Preventive Measures to Reduce Risk
Currently, there is no vaccine available for scrub typhus, but taking preventive steps can significantly lower the risk of infection. Doctors recommend the following measures to stay safe:
- Personal hygiene: Regularly bathing and washing clothes can minimize the chances of mite exposure.
- Environmental cleanliness: Keeping your surroundings free from weeds, tall grass, and overgrown bushes is essential to avoid attracting mites.
- Use of insect repellents: Applying repellents on exposed skin can provide an extra layer of protection against mite bites.
- Proper waste management: Ensuring that garbage and organic waste are disposed of properly helps reduce areas where mites can thrive.
Rising Concerns and Health Advisory
With scrub typhus cases increasing in India, the health department is taking the situation seriously. Residents in these areas are being urged to stay informed and take precautions, especially if they live or work near dense vegetation.
The disease can be treated effectively if caught early, with antibiotics being the primary form of treatment. However, delaying treatment increases the risk of complications, which is why awareness and vigilance are essential in the fight against scrub typhus.
As the number of cases grows, medical professionals and local authorities are working together to raise awareness about the risks and to encourage people to take preventive actions. They also stress the importance of timely medical consultation and testing when symptoms arise, as this can be life-saving.