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Lesions lips, patient with hemorrhagic hereditary telangiectasia. Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.
There are five types of hereditary hemochromatosis: type 1, 2 (2A, 2B), 3, 4 [9] and 5, [10] all caused by mutated genes. Hereditary hemochromatosis type 1 is the most frequent, and uniquely related to the HFE gene. It is most common among those of Northern European ancestry, in particular those of Celtic descent. [11]
Hereditary spherocytosis is a genetically transmitted (autosomal dominant) form of spherocytosis, an auto-hemolytic anemia characterized by the production of red blood cells that are sphere-shaped rather than bi-concave disk shaped (donut-shaped), and therefore more prone to hemolysis. [41] Hereditary elliptocytosis: D58.1: 4172
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.
In these cases, the basic reproduction number of the virus, which is the average number of additional people that a single case will infect without any preventative measures, can be as high as 203.9. [9] [10] Interhuman transmission is a synonym for HHT. [11]
Reference ranges (reference intervals) for blood tests are sets of values used by a health professional to interpret a set of medical test results from blood samples. Reference ranges for blood tests are studied within the field of clinical chemistry (also known as "clinical biochemistry", "chemical pathology" or "pure blood chemistry"), the ...
The hematocrit (/ h ɪ ˈ m æ t ə k r ɪ t /) (Ht or HCT), also known by several other names, is the volume percentage (vol%) of red blood cells (RBCs) in blood, [1] [2] measured as part of a blood test. [3] The measurement depends on the number and size of red blood cells. [3] It is normally 40.7–50.3% for males and 36.1–44.3% for ...
The mean corpuscular hemoglobin concentration (MCHC) is a measure of the concentration of hemoglobin in a given volume of packed red blood cell. It is calculated by dividing the hemoglobin by the hematocrit. Reference ranges for blood tests are 32 to 36 g/dL (320 to 360g/L), [1] or between 4.81 and 5.58 mmol/L.