Hematology focuses on diseases of the blood, bone marrow, and lymphatic system. Learn about the diagnosis and treatment of anemia, leukemia, and lymphoma.
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Diagnosing hemophilia accurately is essential for effective management. It involves a combination of assessing clinical bleeding history and performing specialized laboratory investigations. Because hemophilia A and B present identically, they cannot be distinguished by physical examination alone; precise blood tests are required. At Liv Hospital, the evaluation process is comprehensive, aiming not only to identify the type of hemophilia but also to stratify its severity and check for genetic implications that may affect the wider family
The initial screening test is the Activated Partial Thromboplastin Time (APTT). This measures how long it takes for blood to clot through the intrinsic pathway.
In hemophilia, the APTT is prolonged (takes longer than normal). However, the Prothrombin Time (PT), which measures the extrinsic pathway, remains normal. An isolated prolonged APTT suggests a deficiency in Factor VIII, IX, XI, or XII and prompts further testing.
To confirm the diagnosis and distinguish between Hemophilia A and B, a specific factor assay is performed.
This test measures the functional activity of Factor VIII and Factor IX.
Diagnosis A: Low Factor VIII activity confirms Hemophilia A.
Diagnosis B: Low Factor IX activity confirms Hemophilia B.
The level of activity found dictates the severity classification (mild, moderate, or severe), which directly influences the treatment protocol.
Genetic testing looks for the specific mutation in the Factor VIII or Factor IX gene.
Identifying the specific mutation is useful for predicting the risk of developing inhibitors (antibodies against the treatment). It is also essential for carrier testing in female relatives who may be at risk of passing the gene to their children.
One of the most critical evaluations for a hemophilia patient is checking for inhibitors. An inhibitor is an antibody developed by the immune system that neutralizes the infused clotting factor concentrate, rendering standard treatment ineffective.
The Bethesda assay measures the concentration of these inhibitors. The result is given in Bethesda Units (BU). A low-titer inhibitor (<5 BU) may be overcome with higher doses of factor, while a high-titer inhibitor (>5 BU) requires alternative therapies.
For families with a known history of hemophilia, prenatal diagnosis can determine if a male fetus is affected.
Performed between weeks 11 and 14 of pregnancy, this tests tissue from the placenta.
Performed after week 15, this tests the amniotic fluid.
In some cases, determination of fetal sex via maternal blood test can help rule out the disease (if the fetus is female), though definitive genetic diagnosis still requires invasive sampling.
For patients with established hemophilia, regular evaluation of joint health is vital to detect early signs of arthropathy.
Ultrasound is increasingly used to detect early joint changes and small amounts of fluid (effusion) that may not be apparent on physical exam.
Magnetic Resonance Imaging provides the most detailed view of the soft tissue and cartilage status, helping to guide decisions on physiotherapy or orthopedic intervention.
The evaluation must rule out other bleeding disorders.
This is the most common bleeding disorder. It can also cause low Factor VIII levels, mimicking mild Hemophilia A. Specific tests for Von Willebrand Factor antigen and activity are needed to distinguish the two.
Sometimes called Hemophilia C, this affects both genders and is distinguished by specific Factor XI assays.
Before any surgical procedure, including dental extractions, a rigorous evaluation is required.
The medical team calculates exactly how much factor replacement will be needed to maintain hemostasis during and after the surgery to prevent uncontrolled bleeding.
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A urologist is a surgeon trained to treat conditions of the urinary tract in both men and women. A urogynecologist has specific training in female pelvic medicine and reconstructive surgery, focusing on conditions like bladder prolapse and female incontinence.
The bladder lining (urothelium) has a high regenerative capacity and heals quickly after minor trauma or infection. However, the muscle layer (detrusor) does not regenerate well. If the muscle is damaged by chronic overdistention or fibrosis, the loss of function is often permanent.
Yes, psychological stress can exacerbate bladder symptoms. The bladder has many nerve receptors sensitive to stress hormones. “Stress incontinence” refers to physical pressure (coughing/sneezing), but anxiety can trigger “urgency” and frequency, mimicking Overactive Bladder symptoms.
Yes, the bladder’s functional capacity tends to decrease with age. Furthermore, the elasticity of the bladder wall reduces, and the kidneys produce more urine at night (nocturnal polyuria), leading to increased nighttime urination in older adults.
Neurogenic bladder is a term used when the nerve control of the bladder is disrupted due to a brain, spinal cord, or nerve condition (like diabetes or MS). This can cause the bladder to either be unable to hold urine (incontinence) or unable to empty it (retention).
Hemophilia is not just a male disease; it also affects women. The signs of hemophilia can be hard to spot and are often mixed up
Hemophilia is a genetic disorder that makes it hard for the body to form blood clots. This can cause prolonged bleeding. Recent studies have found
Haemophilia is a rare genetic disorder that makes it hard for blood to clot. This leads to long-lasting bleeding. Mutations in the genes responsible for
Hemophilia is a genetic disorder that makes it hard for the body to form blood clots. Blood clots are essential to stop bleeding. Living with
Hemophilia is a bleeding disorder that makes it hard for the body to clot blood. It has been linked to European royal families, leading many
What is Hemophilia? Hemophilia affects about 1 in 5,000 males globally. This genetic disorder makes it hard for blood to clot, causing long bleeding times.
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