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Hemophilia – Diagnosis, Symptoms, and Management

Hemophilia – Diagnosis, Symptoms, and Management

Hemophilia is a rare disorder where the blood in a person’s body does not clot effectively. It occurs due to the lack of clotting factors in the blood. Those who have hemophilia tend to bleed for a lot longer compared to someone who does not. In severe cases of hemophilia, internal bleeding can be life-threatening. It is mainly a genetic disorder, and treatments are available that focus on improving clotting and reducing symptoms.

Symptoms
The symptoms of hemophilia can vary from person to person. It is normal because the symptoms depend on the level of clotting factors present in the blood. If the level of clotting factors has reduced only mildly, the individual may only bleed after surgery or trauma. But, if there is a massive deficiency in the blood clotting factors, the individual can bleed easily and sometimes for no reason. Some of the common signs and symptoms of spontaneous bleeding include:

  • Sudden and unexplained bleeding
  • Bleeding from cuts and other injuries without it stopping
  • Unexplained bruises that tend to last for a long time
  • Bleeding after taking a vaccination
  • Nosebleeds with no cause
  • Passing blood in stool and urine
  • Pain and swelling in the joints
  • Unexplained irritability in small children and infants

With hemophilia, minor injuries can also lead to profuse bleeding, which is why those with hemophilia should also be very careful about getting injured. A small bump on the head can also lead to bleeding into the brain. It is possible, especially with cases of severe hemophilia, one of the most severe complications of this condition. Some of the common signs of bleeding into the brain caused by hemophilia include-

  • Painful headaches which last for an extended period
  • Sleepiness and lack of energy to do things
  • Constant vomiting and nausea
  • Troubles with vision, especially double vision
  • Seizures or convulsions

Getting proper and timely healthcare is crucial in the fight against hemophilia. If you notice any of the above symptoms, it is crucial to get checked by a healthcare professional. They will help diagnose the condition and provide the proper treatment.

Causes and risk factors
When a person is injured, any bleeding stops after a certain period. The body starts to pool the blood cells together to create a clot. This clot forms a wall which helps to stop the bleeding. What makes these blood cells come together are proteins known as clotting factors. If these clotting factors are not present in the blood or are available in minimal quantities, the body will have a hard time creating a clot which can lead to excessive bleeding. There are different types of hemophilia based on what triggers this condition. The two types include congenital hemophilia and acquired hemophilia. Congenital hemophilia is when the condition is passed down through genetics, meaning a person is born with this condition. Congenital hemophilia is categorized based on the clotting factors that are missing. The most common kind here is hemophilia A, where the individual has level levels of clotting factor 8. The other common type, hemophilia B, happens when the individual has a low clotting factor 9. On the other hand, acquired hemophilia is when the individual develops this condition without having any family history of the disease. This type of hemophilia can be caused due to pregnancy, autoimmune conditions, cancer, and multiple sclerosis.

The most significant risk factor for individuals is genetics and familial predisposition. Those who have family members who have this condition are at high risk of developing it themselves. Studies have also found that gender can play a massive role in developing this condition. Males are more likely to develop hemophilia compared to females.

Diagnosis
In severe cases of congenital hemophilia, healthcare professionals can diagnose the condition within the first year of life. On the other hand, mild cases of hemophilia may go undiagnosed until much later. In some cases, it may also go undiagnosed until adulthood. It is mainly because mild cases do not typically exhibit many signs and symptoms. Individuals typically learn about their hemophilia diagnosis when they undergo a surgical procedure.

Tests that are present for hemophilia are mainly used to reveal the clotting factor deficiency. It helps to understand which clotting factor is present in low levels. It also helps to determine if the case is mild or severe.

Those with a family history of hemophilia can opt for a genetic test. This help to find if the individual carries particular genes responsible for hemophilia. It can help the individual make well-thought decisions about getting pregnant. It is also possible to determine if the fetus has been affected by hemophilia during pregnancy. But, the testing does pose certain risks, which is why the doctors and the individuals should discuss to understand the benefits and risks of this test and make a decision.

Treatments
Hemophilia is caused due to the deficiency of clotting factors in the blood. The way to treat this is to replace the clotting factors. For severe cases of hemophilia, replacement therapy is given to treat a bleeding episode. The clotting factors are added to the blood via a tube connected to a vein. It can also be carried out regularly at home as it can be a preventive measure for bleeding episodes. Some individuals can also opt for continuous replacement therapy. Clotting factors can be made from the blood donated by other individuals. In some cases, clotting factor is also produced in the laboratory. Such clotting factors are not made from human blood.

Other hemophilia treatments include desmopressin, clot-preserving treatments, fibrin sealants, physical therapy, and even basic first aid (for small injuries). In addition, many ongoing clinical trials are looking for more effective treatments to manage this condition.

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Known Signs of Hemophilia and Anemia

Bleeding disorders refer to a group of conditions like hemophilia or anemia that interfere with normal blood functions in the body. Hemophilia affects the ability of the blood cells to clot naturally, while anemia lowers hemoglobin count in the red blood cells. These conditions exhibit a unique set of symptoms that can be identified. Early diagnosis helps doctors form a viable healthcare plan. So, it pays to know and identify the following symptoms. Hemophilia and Anemia: Understanding the difference Both conditions are common bleeding disorders. However, anemia & hemophilia signs are distinctly different from each other when it comes to the disease progression. The latter is a genetic disorder that affects the red blood cell’s ability to clot and close wounds. Certain clotting factors in the blood bind with the red blood cells to prevent uncontrolled bleeding. Anemia is a condition where the body lacks sufficient healthy red blood cells in the first place. Also, a low hemoglobin count affects the red blood cell’s ability to carry oxygen to vital organs and extremities via the circulatory system. Genetic mutation triggers most known types of hemophilia, while certain nutritional deficiencies in the body trigger common forms of anemia. Symptoms of hemophilia The absence of essential clotting factors in the blood can trigger a variety of noticeable and unusual symptoms. Uncontrolled bleeding Bleeding is one of the primary symptoms of hemophilia. It can happen under the skin or in the joints. As the red blood cells are unable to bind and clot, this pool of blood can trigger swelling, pain, and tightness in the joints. This symptom is most commonly noticeable in the knees, elbows, and ankles. Blood collecting under the skin can lead to buildups under the muscle and soft tissue to cause more painful bruising. This symptom is called hematoma in medical terminology. Frequent nosebleeds When the bleeding is triggered externally, it can result in frequent nosebleeds that can be difficult to stop. Note that external environmental factors and physical injuries generally cause nosebleeds. So, any unexplained bleeding could indicate a developing condition. Bleeding caused due to cuts, bruises, and vaccinations Lack of essential clotting factor VIII can trigger bleeding from the lightest of impacts, cuts, bruises, or even after losing a tooth. Some people experience sudden bleeding after taking a vaccination. This could be the body’s reaction to producing antibodies, but the strain could be too much to bear, resulting in bleeding from the extremities. Blood in urine or stool Excess blood in the urine or stool is a clear sign of disease progression. The urine and stools appear dark red or even blackish due to the presence of red blood cells mixed with the excreta. Immediate medical assistance is advisable for visual symptoms. Bleeding in infants Complicated pregnancies can be physically taxing for both the mother and the child leading to possible symptoms of hemophilia at birth. But in some rare cases, infants may experience internal bleeding in the head. Symptoms of anemia The most common types of anemia, including iron deficiency anemia and vitamin deficiency anemia, develop due to the lack of nutrients in the body. Therefore, anemia exhibits more physically taxing symptoms as the condition worsens. Tiredness Increased fatigue and weakness for no apparent reason is one of the main indicators of nutritional deficiencies. An unexplained decrease in overall stamina with no physical exertion or any activity during the day could mean low iron in the blood. Without iron, the body cannot produce enough red blood cells. And low hemoglobin means not enough oxygen is being circulated around vital organs in the body, thus resulting in fatigue induced by low energy levels. Respiratory symptoms Experiencing shortness of breath, chest pains, and even noticing an irregular heartbeat could indicate a possible anemic condition. An iron deficiency lowers hemoglobin count, and this means not enough oxygen is being circulated by the blood. Low hemoglobin affects the breathing rate as the body struggles to extract more oxygen resulting in shortness of breath. The heart must also put in extra efforts to pump the low hemoglobin blood forcefully, thus resulting in irregular heartbeats. Doctors refer to this condition as heart palpitations. These symptoms can also induce chest pains due to the sheer stress being put on the organ. Pale skin and damaged hair Skin and hair symptoms are visible indicators of a developing anemia condition. An iron deficiency results in low red blood cell production and indirectly affects the shade of the skin. Pale skin is noticeably visible around the face, gums, lower lips, lower eyelids, and even on the nails. This symptom is more visually obvious among people who flaunt a lighter skin tone. Also, hair thinning, hair fall, and a damaged scalp is a clear sign of iron deficiency. Treatment options Note that anemia & hemophilia signs never overlap. Once the primary indicators are confirmed, doctors quickly suggest blood tests to identify the leading causes or triggers. Knowing the differences can help with prompt diagnosis even though both the conditions are bleeding disorders. It is even possible to recover from common forms of anemia within 2 to 3 months. Hemophilia is a more serious bleeding disorder that is treated by introducing the missing clotting factors. Doctors also suggest prescriptions that help stimulate the body to release more clotting factors. However, a transfusion offers more promising results for moderate to severe progression. Effective preventive measures and home remedies can help lower the risk of bleeding. These conditions cannot be completely cured. But it is possible to improve the quality of life by incorporating healthy lifestyle habits. Prescriptions and treatments only help slow down the disease progression.

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Causes, Signs, and Management of Heart Failure

Heart failure occurs when one’s heart muscles are unable to pump sufficient blood and oxygen to support other organs. It does not mean that the heart stops beating entirely. Simply put, the heart is just unable to function optimally. This condition is the leading cause of death in the country, affecting roughly 5.1 million people. Here are some common signs and conditions that lead to heart failure and treatment options for it Causes of heart failure The following are some of the health conditions that are known to cause heart failure, also termed as congestive heart failure. Coronary artery disease Coronary artery disease is caused when cholesterol or fatty deposits accumulate on the walls of the arteries and restrict the blood flow to the heart. Narrowed arteries can also lead to chest pain, heart attack, and weakened heart muscle. Cardiac amyloidosis Cardiac amyloidosis, also known as stiff heart syndrome, is a condition where proteins get abnormally deposited in and around heart muscles, thus thickening the heart walls. This protein build-up damages the heart and may lead to heart failure. Hypertension Hypertension is a condition where one's blood pressure is consistently higher than usual. It can be brought on by a sedentary or unhealthy lifestyle and excessive coffee consumption. This ailment weakens or stiffens the heart muscles and stops them from effectively pumping blood. Faulty heart valves Heart valves are tiny flaps that ensure the blood flows in the right direction. A damaged valve, which can occur due to aging, infection, or birth defect, puts pressure on the heart muscles. Cardiomyopathy It is a chronic disease of the heart muscles. Cardiomyopathy can be inherited, brought on by viral infections, or developed during pregnancy. Congenital heart disease Congenital heart disease refers to heart issues born from a range of birth defects that affect the blood flow. Arrhythmias The resting heart rate for a healthy person is 60 to 100 beats per minute. Arrhythmia is when the heartbeats are either faster or slower than normal. This irregularity weakens the heart, limits blood flow, and can eventually result in heart failure. Any of the conditions mentioned above, or diabetes, COVID-19 infection, or hyperthyroidism, can cause arrhythmias. Anemia Anemic patients may experience heart failure as a result of a deficiency in red blood cells or oxygen-carrying hemoglobin. Iron, vitamin B12, folate, and copper deficiencies are the main causes of anemia. Any intestinal disorders that don't allow the body to absorb the nutrients can also lead to developing anemic tendencies. Symptoms of heart failure Heart failure develops gradually, so its symptoms can often be overlooked as seasonal or temporary discomfort. Mild heart failure can restrict one's regular activities and make them feel weak or out of breath. Deteriorating heart health, however, can pose a serious risk in the long run. Shortness of breath Heart failure symptoms are common in men and women. The condition pools the lungs with fluid and interrupts one’s breathing. So, even light physical activity or exercise can leave one feeling breathless. Chronic fatigue Chronic fatigue due to heart failure occurs because the heart has blocked passages and has to work harder to pump oxygen-rich blood to meet the body’s needs. This leads to a generalized feeling of exhaustion even without any lifestyle changes. Irregular heartbeat One may experience an irregularity in one’s heartbeat for no apparent reason. This is because the heart cannot pump blood adequately throughout the body when it is failing. Bloating and swollen body parts due to fluid retention Fluid retention is a warning sign of progressive heart failure. Water retention could occur as a result of decreased blood supply to the kidneys. This accumulation can manifest in a number of ways, including stomach bloating, chronic coughing, swollen ankles and legs, or nausea. Dry cough A weak heart sends the fluid into the lungs, which can congest the lungs and lead to dry cough or wheezing. This may also result in breathing issues during physical activity, when at rest or lying flat on one’s back. Those who suffer from heart failure often consider the early symptoms as a natural part of aging. Some warning signs like fatigue and shortness of breath do resemble age-related issues. But it's best to get them checked early on to avoid worsening the condition. At times, some of these symptoms may also resemble lung conditions like asthma and Chronic Obstructive Pulmonary Disease (COPD). Management of heart failure Those older than 65, those born with heart defects, or those suffering from type 2 diabetes are at a higher risk of developing the condition. Some lifestyle adjustments like regular exercise, walking, and intake of healthy food habits can reduce the risk of the disease. Additionally, one can also opt for low-salt foods, reduce stress through yoga and meditation, spend time in nature, and get plenty of rest to keep the heart healthy for a long time. Treatments for heart failure Heart failure is a life-threatening disorder, but it can also be cured with timely treatment. If it is suspected, a healthcare professional will run some tests, including chest X-ray, stress test, echocardiogram, or blood tests to find the root cause of the discomfort and heart blockages, if any. Here are some common treatments for heart failure: Coronary bypass surgery This surgery builds a new channel to restore the blood flow to the heart muscles. This treatment uses healthy blood vessels from one’s leg, arm, or chest and connects them below and above the heart's obstructed arteries. Heart valve replacement This surgery aims to fix any issue in one's malfunctioning heart valve that causes heart failure. An open heart surgery can be used to replace a heart valve. Cardiac resynchronization therapy (CRT) CRT may be required if the lower heart chambers do not pump in unison. This surgery facilitates synchronized ventricular contraction, which enhances cardiac performance. Ventricular assist device (VAD) This device aids blood circulation in one's body and is surgically implanted in the patient's left ventricle. Implantable cardioverter defibrillator (ICD) This surgery implants a battery-powered device under the skin of the chest to detect and stop irregular heartbeats and avoid heart failure complications. In this, the patient’s heart rate is closely monitored. Heart transplant A heart transplant can be a suitable treatment for extreme cases. It is usually a last resort.

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