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Hyperhomocysteinemia is a medical condition characterized by an abnormally high level of total homocysteine (that is, including homocystine and homocysteine-cysteine disulfide) in the blood, conventionally described as above 15 μmol/L. [1]
Based on 2005-2006 estimates, the Centers for Disease Control and Prevention has stated that approximately 5.5 million Americans a year are either admitted to a hospital or seen by a physician, with some form of anemia as their primary diagnosis. [4] Symptoms of anaemia include Plummer–Vinson syndrome, candidal infections.
Polycythemia is defined as serum hematocrit (Hct) or hemoglobin (HgB) exceeding normal ranges expected for age and sex, typically Hct >49% in healthy adult men and >48% in women, or HgB >16.5 g/dL in men or >16.0 g/dL in women. [8] The definition is different for neonates and varies by age in children. [9] [10]
Individuals with TEC have a median age of presentation of 18–26 months; however, the disorder may occur in infants younger than 6 months and in children as old as age 10 years. Because of the gradual onset of the anemia, children are often healthier than expected from their low hemoglobin levels. [citation needed]
Hematocrit levels that are too high or too low can indicate a blood disorder, dehydration, or other medical conditions. [4] An abnormally low hematocrit may suggest anemia, a decrease in the total amount of red blood cells, while an abnormally high hematocrit is called polycythemia. [5] Both are potentially life-threatening disorders.
One study found the median age at diagnosis to be 60 years, [9] while a Mayo Clinic study in Olmsted County, Minnesota found that the highest incidence was in people aged 70–79 years. [40] The overall incidence in the Minnesota population was 1.9 per 100,000 person-years, and the disease was more common in men than women. [ 40 ]
In children, ferritin levels above 10000 μg/L are very sensitive and specific for the diagnosis of HLH, [17] however, the diagnostic utility for ferritin is less for adult HLH patients. [18] The serum fibrinogen level is usually low and the D-dimer level is elevated. [citation needed] The sphingomyelinase is elevated. [19]
This is an effect of intravascular hemolysis, in which hemoglobin separates from red blood cells, a form of anemia. Hemoglobinemia can be caused by intrinsic or extrinsic factors. When hemoglobinemia is internally caused, it is a result of recessive genetic defects that cause the red blood cells to lyse , letting the hemoglobin spill out of the ...