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Osteopetrosis, literally "stone bone", also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften.
Lafora disease is a rare, adult-onset and autosomal recessive [4] genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle ...
Dacrocytes compared to other forms of poikilocytosis. A dacrocyte (or dacryocyte) is a type of poikilocyte that is shaped like a teardrop (a "teardrop cell"). A marked increase of dacrocytes is known as dacrocytosis. These tear drop cells are found primarily in diseases with bone marrow fibrosis, such as: primary myelofibrosis, myelodysplastic ...
Crohn’s disease. Sickle cell anemia. Amyotrophic lateral syndrome. Parkinson’s disease. ... A terminal illness when the patient’s remaining life expectancy isless than six months.
Sickle cell retinopathy. Sickle cell retinopathy can be defined as retinal changes due to blood vessel damage in the eye of a person with a background of sickle cell disease. It can likely progress to loss of vision in late stages due to vitreous hemorrhage or retinal detachment. [1] Sickle cell disease is a structural red blood cell disorder ...
Possessors of the deleterious allele have much lower life expectancies, with homozygotes rarely reaching 50 years of age. However, this allele also enhances resistance to malaria. Thus, in regions where malaria exerts or has exerted a strong selective pressure, sickle cell anemia has been selected for its conferred partial resistance to the ...
Hematology. Cold agglutinin disease ( CAD) is a rare autoimmune disease characterized by the presence of high concentrations of circulating cold sensitive antibodies, usually IgM and autoantibodies that are also active at temperatures below 30 °C (86 °F), [1] directed against red blood cells, causing them to agglutinate and undergo lysis. [2 ...
Familial dysautonomia ( FD ), also known as Riley-Day syndrome, is a rare, [2] progressive, [3] recessive genetic disorder of the autonomic nervous system [2] that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons in the autonomic and sensory nervous system .
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