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Blood Test - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 10 August 2022

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Prekallikrein deficiency

In patients with this disorder, blood tests show a prolonged thromboplastin time, a finding that is often associated with bleeding disorders; however, bleeding problems do not occur in prekallikrein deficiency. Following surgery, only those with prekallikrein deficiency have suffered with health problems related to blood clotting, such as heart attack, stroke, a clot in the deep veins of the arms or legs, nosebleeds, or excessive bleeding after surgery.

Source link: https://medlineplus.gov/genetics/condition/prekallikrein-deficiency


Eosinophil peroxidase deficiency

Eosinophil deficiency is a disorder that affects certain white blood cells called eosinophils but not injures those individuals. Eosinophils have little or no eosinophil perforation, resulting in a lack of eosinophil perfusion. Since eosinophil peroxidation does not cause any health signs, this disorder is often diagnosed when blood tests are performed for other reasons or when a family friend is diagnosed with the condition.

Source link: https://medlineplus.gov/genetics/condition/eosinophil-peroxidase-deficiency


Primary sclerosing cholangitis

Primary sclerosing cholangitis is a disorder that affects the bile ducts. Primary sclerosing cholangitis is a result of inflammation in the bile ducts, which causes scarring and narrowing of the ducts. Primary sclerosing cholangitis is typically diagnosed about age 40, and for unknown reasons, it affects both men and women twice as often as women. When people are diagnosed, they have no signs or symptoms of the illness, but routine blood tests reveal liver problems. Enhanced exhaustion, abdominal pain, and extreme itchiness are among the early signs and symptoms of primary sclerosing cholangitis, as shown. Eventually, the buildup of bile damages the liver cells, causing chronic liver disease and liver disease. Vitamin D, a fat-soluble vitamin that aids bone formation and aids bone hardening, and in people with primary sclerosing cholangitis, the bones can thinning of the bones. Primary sclerosing cholangitis is often associated with another disorder, inflammatory bowel disease, which is characterized by inflammation of the intestines that causes open sores in the intestines and abdominal pain, which is often attributed to gastrointestinal inflammation. About 75% of people with primary sclerosing cholangitis have inflammatory bowel disease, most commonly a condition known as ulcerative colitis. In addition, people with primary sclerosing cholangitis are more likely to have an autoimmune disorder such as type 1 diabetes, celiac disease, or thyroid disease than those without the condition. People with primary sclerosing cholangitis are also at risk of developing cancer, particularly cancer of the bile ducts.

Source link: https://medlineplus.gov/genetics/condition/primary-sclerosing-cholangitis


Familial isolated hyperparathyroidism

One or two overactive parathyroid glands secretly hyperparathyroid hormone, which causes the blood calcium levels to rise in familial hyperparathyroidism. The parathyroid hormone promotes bone mineral removal and calcium absorption, which is then released into the bloodstream, as the mineral is then introduced into the bloodstream. The production of excess parathyroid hormone in people with familial isolated hyperparathyroidism are triggered by tumors that involve the parathyroid glands. parathyroid carcinoma is a rare form of hyperparathyroidism with a familial connection. Since abnormalities of the parathyroid glands are responsible for excess parathyroid hormone secretion, familial isolated hyperparathyroidism is characterized as a type of primary hyperparathyroidism. Many of the common signs and symptoms of familial isolated hyperparathyroidism, such as kidney stones, nausea, vomiting, elevated blood pressure, weakness, and exhaustion, can be caused by overactive parathyroid glands.

Source link: https://medlineplus.gov/genetics/condition/familial-isolated-hyperparathyroidism


Prostate cancer

Prostate cancer is a common disease that affects males, most commonly in middle age or later. Early prostate cancer does not cause pain, and the majority of affected men have no apparent signs of disease. Just because a man has one or two of these signs does not necessarily mean he has prostate cancer. Prosecutors' symptoms and presentation of prostate cancer varies widely. Early-stage prostate cancer can often be treated successfully, and some older men have prostate tumors that grow so slowly that they may never cause health problems throughout their lifetime, even without medication. In some men, however, the cancer is more aggressive; in those situations, prostate cancer can be life-threatening; prostate cancer can be life-threatening. Metastatic cancer's signs and symptoms will vary depending on where the disease has spread. Hereditary prostate cancers tend to appear earlier in life than non-inherited cases.

Source link: https://medlineplus.gov/genetics/condition/prostate-cancer


African iron overload

African iron overload is a health condition that requires the absorption of too much iron from the diet. Iron levels in the body are mainly regulated by monitoring how much iron is absorbed from the diet. African iron overload has been attributed to a diet high in iron. In African iron overload, excess iron generally occurs in particular immune cells called reticuloendothelial cells. This pattern contrasts that of hereditary hemochromatosis, a related iron overload disorder in which the excess iron deposits mainly in the hepatocytes. If there is enough iron is absorbed, the resulting iron overload can cause tissue damage and organs. Cirrhosis can raise the risk of suffering hepatocellular carcinoma, which is a form of liver cancer. Iron overload in immune cells may influence their ability to fight infections. An elevated risk of contracting tuberculosis is linked to African iron overload. Vitamin C deficiency disorders such as scurvy can also lead to a faster-than-normal breakdown of vitamin C in the body, so affected individuals are at a higher risk of vitamin C deficiency disorders such as scurvy. People with African iron overload may have a modestly poor number of red blood cells, owing to the iron that builds in the liver, bone marrow, and spleen is less suitable for the manufacture of red blood cells. Ferritin stores and releases iron in cells, and cells produce more ferritin in reaction to elevated amounts of iron.

Source link: https://medlineplus.gov/genetics/condition/african-iron-overload


Chronic myeloid leukemia

Normal bone marrow has red blood cells that protect the body from disease, white blood cells that shield the body from infection, and platelets that facilitate blood clotting. The bone marrow has an excess number of white blood cells in chronic myeloid leukemia. However, as the disease progresses, immature white blood cells called myeloblasts accumulate in the blood and bone marrow. The overgrowth of myeloblasts slows the formation of other blood cells, contributing to a shortage of red blood cells and platelets. About half of people with chronic myeloid leukemia do not have any signs or symptoms and are diagnosed after a blood test is performed for another reason. The number of mature white blood cells in the chronic phase has risen, but myeloblasts account for less than ten percent of blood cells. Myeloblasts account for 30 percent or more of blood or bone marrow cells in a blast blast.

Source link: https://medlineplus.gov/genetics/condition/chronic-myeloid-leukemia


Gilbert syndrome

Gilbert syndrome is a relatively mild disease that is characterized by prolonged levels of a toxic substance called bilirubin in the blood. When red blood cells are broken down, bilirubin, which has an orange-yellow tint, is created. People with Gilbert syndrome have an elevated level of unconjugated bilirubin in their blood. Gilbert syndrome is often seen in adolescence. Some people with Gilbert syndrome may also experience abdominal pain or exhaustion. However, about 33% of people with Gilbert syndrome have no signs or signs of the illness, and they are only confirmed when routine blood tests reveal elevated unconjugated bilirubin levels.

Source link: https://medlineplus.gov/genetics/condition/gilbert-syndrome


Lysosomal acid lipase deficiency

Lysosomal acid lipase deficiency is an inheritable disorder that is characterized by body composition and use of fats and cholesterol. lipids build up throughout the body, especially in the liver, within the first weeks of life in the severe, early-onset form of lysosomal acid deficiency. Scar tissue buildup in the liver quickly builds up, causing liver disease. Infants with this type of lysosomal acid lipase deficiency develop multi-organ dysfunction and severe hunger, and do not survive past one year. The deficiency's later-onset form of lysosomal acid lipase deficiency begins in mid-childhood but can persist well into late adulthood. Nearly all affected people have an enlarged liver, and an enlarged spleen may also occur; an enlarged spleen can also occur. Individuals with this type of lysosomal acid lipase deficiency may have elevated liver enzymes and elevated cholesterol levels, which can be confirmed by blood tests. fatty deposits on the artery walls fatty deposits of people with this later-onset lysosomal acid lipase deficiency develop. Although these deposits are common in the general population, they do not appear in people with lysosomal acid lipase deficiency at an earlier age. The expected lifespan of individuals with lysosomal acid lipase deficiency in late-onset varies depending on the severity of the related health conditions. Both forms of lysosomal acid lipase deficiency were previously thought to be distinct disorders.

Source link: https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions