Hemophilia vs. Idiopathic Thrombocytopenic Purpura

Hemophilia vs. Idiopathic Thrombocytopenic Purpura

A body’s inability to effectively clot blot is most commonly evident through symptoms like excessive and prolonged bleeding. Often this bodily malfunctioning can be attributed to one of two disorders: hemophilia and idiopathic thrombocytopenic purpura (ITP).

Below are some of the differences between these structurally divergentyet symptomatically similardisorders.

Hemophilia

Hemophilia is a rare blood disorder caused by a lack of clot factor protein and is most often inherited genetically through the X chromosome.

There are over 20 kinds of clot factor proteins. The most common form of hemophilia, type A, involves the absence or malfunctioning of factor VIII. Similarly, hemophilia type B entails a lack or improper functioning of factor IX. Although females carry the hemophilia gene, often asymptomatically, the disorder occurs primarily in males. Blood tests are required to determine the specific type and severity of the hemophilia.

Symptoms include excessive, prolonged bleeding or bruising, with complications arising from internal bleeding being particularly life-threatening.

Seeing as hemophilia is almost always genetically-based, symptoms can be present from birth, such as excessive bleeding resulting from the cutting of the umbilical cord. If a family history of hemophilia is known, prenatal testing is sometimes administered, potentially diagnosing hemophilia in a fetus just 12 weeks into pregnancy.

Idiopathic Thrombocytopenic Purpura (ITP)

Unlike genetically-rooted hemophilia, ITP stems from a malfunctioning autoimmune system that produces blood platelet-disabling antibodies. Platelets are cells essential to the blood clotting process, and defective blood clotting in the case of ITP results primarily from this low platelet count.

ITP tends to develop with time, as opposed to hemophilia, which is present since birth. Although children may develop a temporary case of ITP in conjunction with a viral infection, contracting ITP as an adult is most often chronic. More common among females, ITP is caused by several factors, including an overactive spleen, certain drugs, and concurrent illnesses like lupus or HIV.

Symptoms include rash clusters of small red or purple spots, blood in stools or urine, heavier-than-normal menstrual cycles, and unwarranted nosebleeds. Some forms of ITP are largely asymptomatic.

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The Hemophilia Terms you Need to Know

Hemophilia Terms

Hemophilia is a highly uncommon genetic blood disorder that inhibits the body from producing clot proteins that are needed to stop bleeding. Given the genetic nature of the disease, medical professionals use terms from a highly specialized medical lexicon. Here are some hemophilia terms more frequently used when discussing the disorder.

CLOTTING FACTORS

Human blood contains more than 20 varieties of clotting factors, which are all proteins essential for the clotting process. Hemophiliacs lack clotting factors VII or VIII, specifically, resulting in symptoms like prolonged and unexpected bleeding. Hemophilia varies in severity, with mild cases potentially having nearly 50% of functioning clotting factors, while more severe cases having less than 1%.

GENE THERAPY

Given the genetic nature of the disorder, gene therapy attempts to treat or replace malfunctioning genes. Currently, in its experimental phase, no gene therapy system has yet been proven effective in the long-term. Although research is promising, positive results tend to disappear a few days following treatment.

FACTOR REPLACEMENT INJECTIONS

A proven therapy for improving blood clotting capacity in hemophiliacs involves intravenous injections and currently exists in two varieties. First, plasma-derived factors are extracted from human plasma samples, which are then screened for impurities and then sterilized. Second, recombinant concentrates are entirely synthesized in the laboratory by taking the human DNA specific to healthy clotting factors and then injecting them into animal cells. Those cells are replicated until clotting factors are ready for extraction.

PROPHYLAXIS

Prophylaxis represents one method of injecting replacement clotting factors. Those affected with moderate to severe forms of hemophilia sometimes use this method on a weekly (and sometimes daily) basis. Mild forms of hemophilia can be treated by injecting replacement clotting factors on an as-needed basis, such as after prolonged bleeding due to an injury. Although injections are often costly, they provide an effective means of improving clotting functionality before bleeding even begins. Injections can also prevent permanent joint damage by reducing blood build-up in joint cavities.

INHIBITORS

Although factor replacement injections are widely successful in improving the body’s ability to clot, in some cases the body will reject those injections, interpreting them as a foreign threat, with the immune system sending antibodies in counteraction. Treating inhibitors can be costly and complex, however, they are typically temporary.                   

INTERNAL BLEEDING

Internal bleeding, which can be life-threatening, involves blood collecting in spaces internal to the body, potentially putting pressure on other organs and causing them to fail. Factor replacement injections, as well as the avoidance of physically risky activities, are perhaps the best ways for hemophiliacs to avoid internal bleeding.

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What are the Symptoms of Hemophilia?

Symptoms of Hemophilia

Hemophilia — a largely predisposed genetic disorder inhibiting the body’s ability to form blood clots — varies widely in signs and symptoms. Depending on the clotting factors (or clotting proteins) lacking in the blood, hemophilia ranges in severity from mild to moderate to severe. Generally speaking, the lower a number of clotting proteins, the higher the severity of hemophilia. So what are the symptoms of hemophilia to watch out for?

According to the National Hemophilia Foundation, a healthy individual’s clotting factor levels will fall between 50-100%. Levels below 50% determine the severity of a patient’s hemophilia. Mild hemophilia, which accounts for roughly a quarter of all those afflicted by the disorder, represents clotting factor levels between 6-49%. Moderate hemophilia represents 15% of all cases with clotting factor levels between 1-5%. Severe hemophilia accounts for roughly 60% of those affected with clotting factor levels below one percent.

The two primary symptoms of hemophilia include unusual bruising and excessive bleeding. Patients often bleed for prolonged periods of time after minor injuries or following surgery and dental work. They sometimes experience spontaneous bleeding from mucous membranes, such as sudden nosebleeds after receiving vaccinations. Bleeding may also suddenly recur after having stopped for a period of time. Large and deep cruising can also occur without apparent reason.

In addition to external bleeding, hemophiliacs are susceptible to potentially fatal internal bleeding. Symptoms include prolonged abdominal pain, blood in the stool or urine, as well as hematomas and bruises.

Other complications of severe hemophilia include intracranial bleeding, potentially resulting from a head injury. Immediate medical attention should be sought if patients experience extreme weakness or fatigue, prolonged headaches, mood swings, neck stiffness or pains, and changes in vision.

Internal bleeding in severe hemophiliacs can cause damage to joints and muscles, typically affecting the shoulders, hips, knees, and elbows. Symptoms include decreased mobility, joint swelling, and stiffening, pain, and sensitivity to the touch, as well as warmth in affected areas.

Those with hemophilia are encouraged to wear or carry special medical identification to alert healthcare professionals and first-responders in case of an emergency. Teachers and caregivers looking after children suffering from hemophilia should be made sufficiently aware of the type and severity of hemophilia in a particular child.

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The Risks Associated with Hemophilia

Risks Associated with Hemophilia

Hemophilia is a rare genetic blood disorder involving a lack of clot proteins essential to the body’s ability to effectively stop bleeding. Symptoms include unwarranted, excessive, and prolonged bleeding, leading to potentially life-threatening complications, especially when that bleeding is internal. So what are the risks associated with hemophilia?

There is no known cure for hemophilia; however, by utilizing proper risk management strategies in conjunction with ongoing medical supervision and care, hemophiliacs are better able to lead healthy lives.

Hemophilia primarily affects malesparticularly those with family histories including the disorder (although a third of all hemophiliacs report zero history of the disease in their family). Below are some of the risks associated with hemophilia based on gender, age, and racial and ethnicity considerations.

Gender Factors

Hemophilia appears in three main forms, two of which are genetic. Hemophilia types A and B are both passed down through the X chromosome of the mother. An asymptomatic mother carrying the hemophilia gene may impart it unto her son since males only receive one X chromosome. Females acquire two X chromosomesone from each parentwith the recessive hemophilia gene of the mother getting overridden by the dominant chromosome of the father. However, the female can carry this gene without showing symptoms, thereby potentially passing it down to her children. In this way, the daughter of a female carrying the hemophilia gene has a 50% chance of carrying the hemophilia gene as well, and a son would have a 50% chance of having hemophilia.

The third, and much rarer, hemophilia type C, is not caused by sex chromosomes, but rather by both parents being carriers of the gene.

Age Factors

Due to the fact that nearly all cases of hemophilia are genetically determined, therefore meaning the genes are present even prior to birth, innovative prenatal tests are sometimes administered — especially when there is a family history of the disorder.

Although the majority of hemophilia cases are diagnosed before nine months of age, less severe forms of hemophilia may not produce symptoms until adulthood.

Racial and Ethnicity Factors

Although hemophilia generally affects all races and ethnic groups in equal measure, according to the National Hemophilia Foundation, hemophilia type C is particularly prevalent among Ashkenazi Jewish descendants, likely due to higher rates of intermarriage.

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Treating Hemophilia

Hemophilia

Hemophilia is a genetic blood disorder affecting the body’s ability to clot blood effectively. Those with the condition may experience prolonged and excessive bleeding following injuries, dental work, medical procedures, and vaccinations, as well as unwarranted bruising and bleeding (both internal and external). Complications resulting from prolonged bleeding (and especially internal bleeding) are potentially life-threatening

Although no cure currently exists for hemophilia, several symptom management strategies exist to help patients maintain a healthy lifestyle.

The reason hemophiliacs are unable to stop bleeding effectively is due to the lack of clotting factors in the blood. There are over 20 types of clotting factors (also called clotting proteins), of which hemophiliacs are missing one or more to varying degrees. Clotting factor replacement treatments seek to replenish those supplies.

Replacement treatments come in two main forms: plasma-derived and recombinant concentrate.

Plasma-derived factors are taken from human plasma samples. Thoroughly screened for impurities, specific clotting proteins are extracted from these samples and then sterilized.  

Recombinant concentrates are produced entirely in the laboratory by injecting the clotting protein-producing human gene into animal cells and then replicating those cells. These are then screened for impurities and sterilized.  

Clotting factor replacements are administered through intravenous injections, with the particular method depending on the severity of the hemophilia. Mild hemophilia will often be treated with injections on an as-necessary basis, such as during a prolonged bleeding spell following an injury. The more expensive option — geared more toward moderate and severe hemophiliacs — is prophylactic injections. This option normally entails injections on a weekly basis to prevent uncontrolled bleeding before it occurs. Regular prophylactic injections, although pricey ($1000-$2000 per injection), are the preferred method in the treatment of children, who are naturally more accident-prone. They also help to reduce blood build-up in joints (and subsequent joint damage).

Adults typically undergo injection via a butterfly needle, which is sometimes avoided with children as their smaller-sized veins can be more difficult to locate. Children often use a port and catheter, which involves implanting a small port underneath the chest skin, from which a catheter tube connects to a viable vein.

Self-injection of clotting factors is normally only undertaken after thorough and regular training by medical professionals. Many hemophiliacs are able to perform injections at home, provided certain age considerations and after a certain level experience. More severe forms of hemophilia may require the performing of injections at hemophilia treatment centers. Research shows a significant portion of those that use hemophilia treatment centers avoid hospitalization due to complications.

Hemophilia treatment centers also provide additional services beneficial to those suffering from the disorder, including mental health professional who can address the psychological effects commonly produced by hemophilia, as well physical therapists who can treat and prevent joint and muscle damage, and other bodily complications.

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What is Hemophilia?

Hemophilia

Hemophilia is a highly uncommon blood disorder in which a lack or malfunctioning of clotting factors (proteins) inhibits the stoppage of bleeding. The large majority of those diagnosed with the disorder are genetically predisposed, with most those being males.

Those suffering from hemophilia may experience spontaneous or prolonged bleeding and bruising, both internal and external. Several potentially life-threatening complications can result from the disorder.

The disorder varies in type and severity, each dependent upon the kind of abnormality inherited in the hemophilia gene. The disorder is passed down through the recessive gene, usually from an asymptomatic mother to her son. Although the vast majority of cases occur in males, if the gene is carried by both the mother and father, then there is a possibility for the daughter to also inherit the gene.  

Symptoms normally appear early in life, though there are less severe forms of the disorder which produce symptoms only later while in adulthood.

Symptoms evident in infancy include excessive bleeding following the cutting of the umbilical cord, prolonged bleeding during circumcision, and large-sized bruising or mucous membrane bleeding after vaccination shots.

Other symptoms in children may include unexplained and frequent nosebleeds and prolonged bleeding following dental work.

Although there is no cure, symptoms can be managed and minimized by avoiding physically risky activities, as well as by administering injections of clotting factors

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How is Hemophilia Diagnosed?

Hemophilia

A rare blood disorder largely inherited through genetics, hemophilia inhibits the body’s ability to clot blood. Due to a lack of clotting factors (or clotting proteins), patients may experience unwarranted or prolonged bleeding, both internal and external.

Hemophilia is diagnosed through blood tests that analyze the level of clotting factors in the blood, as well as by reviewing the medical histories of both the patient and their family.

Since the vast majority of patients are genetically predisposed to the condition, hemophilia can be diagnosed very early. Given the higher rate of diagnoses in males, tests are more common among younger boys, and a review of their family medical history will often focus on male relatives. Looking at the immediate family’s medical history, however, does not always provide clues as to the root of a patient’s hemophilia, as approximately one-third of patients report no close relatives having the disorder.

Those at genetic risk for hemophilia are often asked by their doctor to undergo a complete blood count (CBC) test, which measures hemoglobin levels. Low levels of hemoglobin—which are the molecule that carries oxygen from the lungs—can be an indicator of hemophilia. CBCs also test for red blood levels, with low levels being another possible explanation for symptoms like prolonged bleeding.

CBC tests indicating the possibility of hemophilia may prompt a doctor to administer an Activated Partial Thromboplastin Time Test (APTT) and a Prothrombin Time Test (PT), analyzing the duration of time it takes for blood to clot, as well as various clotting factors. A long clotting time is a strong sign of hemophilia.

If hemophilia is diagnosed, specific clotting factor tests are administered to determine the type and severity of the disorder. Hemophilia typically varies in severity from mild to moderate to severe. Mild hemophilia corresponds to 6-49% clotting factor levels; moderate hemophilia involves 1-5% clotting factor levels; severe hemophiliathe most common forminvolves less than one percent clotting factor levels.

Innovations in diagnostic screening now include prenatal testing and are able to detect certain abnormalities indicative of hemophilia in a fetus after the 11th week of pregnancy. Further testing for may be done after 18 weeks, involving blood samples that evaluate clotting factor levels. Given the invasive nature of these tests, though, doctors often only recommend them if the fetus is male with a family medical history of the disorder.

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Blood Clots

Blood Clots

Although blood needs to stream non-stop and without any interruptions in the body, blood clots are normal and necessary as they can stop excessive bleeding due to injuries and physical traumas. However, they become an issue when they arise without there being a need, which can lead to severe health complications such as heart attack and stroke.

Clotting occurs when blood interacts with certain thrombogenic substances. Clotting is typically a symptom of an underlying condition, and certain conditions can result in the formation of blood clots in vital organs like the brain and lungs, resulting in poor blood circulation and even blood pooling in the heart. When a blood clot breaks loose from an artery, it can have a severe effect on blood flow and can damage the brain or the heart.

Blood Clot Symptoms

Having a blood clot with no visible symptoms is common, and when people with do experience symptoms, these are often the symptoms of a blood-clotting disorder. Here are some blood clot symptoms to look out for in different parts of the body.

One of the most common body parts to form blood clots in the body are the legs. Blood clots in the legs may cause pain, swelling, and tenderness. One of the most common complications associated with blood clots is deep vein thrombosis, which is when blood clots form in the deep veins of the body, typically in the lower limbs such as the legs, pelvis, but also in the lungs and brain.

The severity of symptoms usually varies depending on clot sizes. Persistent and severe stomach pain and swelling can be a sign of a blood clot in the abdomen as blood clots most typically form in the lower part of the body. While rare, a blood clot can also form in the heart, causing symptoms of chest pain, breathlessness, and dizziness.

When a blood clot in the body breaks loose and makes its way to the lungs, this can result in a condition known as pulmonary embolism. The symptoms of pulmonary embolism include breathlessness, chest pain, and coughing (sometimes blood). Clotting in the brain, on the other hand, can also occur and exhibit itself with excruciating headaches.

Are You At Risk of Blood Clots?

Some risk factors that put one at a greater risk of forming blood clots are:

– Being over 60

– Prolonged inactivity, e.g., a long flight

– Extended bed rest due to surgery or injury

– Being Overweight

– Smoking

– Pregnancy & Birth Control Pills

– Cancer & Some Cancer Treatments

Discuss your personal risk factors, medical history, family history of blood-clotting disorders with your doctor can go a long way in taking preventative measures to keep blood clots at bay.

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Deep Vein Thrombosis Fighting Foods

Deep Vein Thrombosis

When blood clots in the deep veins of the body, usually in the legs, it is referred to as deep vein thrombosis or DVT for short. While a family history of blood-clotting disorders can increase one’s risk of DVT, there are also other risk factors that figure into the development of the condition such as leading a sedentary lifestyle, surgery or injury, pregnancy, and birth control pills.

Although there are traditional treatment options to manage DVT and prevent it from leading to more serious complications such as blood thinners and clot busters, some tweaks in your daily diet can also help to prevent blood clotting.

Red Grapes

Red grapes are rich in antioxidants called flavonoids which have been shown to regulate platelet buildup and prevent blood clots. Not only red grapes but also grape juice and red wine in moderation can have the same beneficial effect on your body.

Water

Drinking lots of water and keeping your body sufficiently hydrated is a significant part of preventing blood clots. Without enough water, your blood can become thicker, which makes it easier for blood to clot. It is vital to drink at least 8 cups of water per day to keep your body hydrated.

Spices and Seasonings

A lot of spices and seasonings contain a substance by the name of salicylates, which can also prevent the formation of blood clots. Some of these spices and herbs are paprika, turmeric, curry, ginkgo, and ginger, all of which you can easily add to your daily diet and cooking.

Cinnamon

Cinnamon is nature’s own anticoagulant because it contains an anti-clotting and anti-inflammatory substance called coumarin. However, it is important to note that if you are on blood thinners, discuss your intake of cinnamon with your physician first.

Garlic

Similar to cinnamon, garlic is a natural blood thinner and can prevent blood to clot. Although just as with cinnamon, you must discuss your garlic intake with your physician if you are already on anticoagulants.

Berries and Kiwi

Though most fruits and vegetables benefit our health in innumerable ways, kiwis have been shown to interrupt platelet activity in the blood, which in turn can help in preventing blood clots. Berries, namely strawberries and blueberries, are high in Vitamin C, antioxidants, and salicylates, and these also contribute to a lower risk of blood clots.

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Deep Vein Thrombosis Symptoms

Deep Vein Thrombosis Symptoms

Deep vein thrombosis, also known as DVT, is a disorder characterized by the formation of a blood clot in the deep veins of the body, usually in the legs or pelvis. A clot can form due to a wide array of reasons, which can be anything from an underlying condition that affects body’s blood clotting process to having a physically inactive lifestyle. So what are the deep vein thrombosis symptoms?

Deep vein thrombosis can be deadly, which is why it is imperative to understand the signs of a blood clot. Here is an overview of deep vein thrombosis signs and symptoms.

Understanding DVT Symptoms

When blood clots in a vein, it blocks an artery, which massively restricts blood circulation through the large veins and arteries. When a clot is lodged in a vein and causes a blockage, it results in pain and swelling.

The lower limbs, such as the legs, are typically more commonly affected by deep vein thrombosis. Along with the swelling and inflammation caused by the clot, the affected areas in the legs may also be painful and sore.

However, it is worth mentioning that deep vein thrombosis does not always come with the symptoms of pain and swelling, which can make its detection much harder. With the risk factors in mind, such as being over 50, overweight, a smoker, and whether any blood-clotting disorders run in your family, you should pay close attention to especially your legs and consult a doctor if you suspect you may have DVT.

Living with DVT

Deep vein thrombosis can be life-threatening without proper treatment, but there are effective treatments and preventative measures available to alleviate symptoms and prevent more dangerous complications associated with blood clots, such as going on blood thinners or clot busters. Understanding how deep vein thrombosis affects the body and how it is treated in addition to following your treatment plan thoroughly is vital.

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