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Arterial tortuosity syndrome. Aspartylglucosaminuria. Atelosteogenesis, type II. Athabaskan brainstem dysgenesis syndrome. Atransferrinemia. Autosomal recessive axonal neuropathy with neuromyotonia. Autosomal recessive GTP cyclohydrolase I deficiency. Autosomal recessive multiple epiphyseal dysplasia.
Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length. A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease. Disorder. Chromosome. Mutation.
Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency. Lethal mutations result in rapid organismal death when occurring during development and cause significant reductions of life expectancy for developed organisms. An example of a disease that is caused by a dominant lethal mutation is Huntington's disease.
Salmonellosis is a symptomatic infection caused by bacteria of the Salmonella type. [1] It is the most common disease to be known as food poisoning (though the name refers to food-borne illness in general), these are defined as diseases, usually either infectious or toxic in nature, caused by agents that enter the body through the ingestion of ...
A well-studied case is that of sickle cell anemia in humans, a hereditary disease that damages red blood cells. Sickle cell anemia is caused by the inheritance of an allele (HgbS) of the hemoglobin gene from both parents. In such individuals, the hemoglobin in red blood cells is extremely sensitive to oxygen deprivation, which results in ...
Electrolyte imbalance. Diagram of ion concentrations and charge across a semi-permeable cellular membrane. Electrolyte imbalance, or water-electrolyte imbalance, is an abnormality in the concentration of electrolytes in the body. Electrolytes play a vital role in maintaining homeostasis in the body. They help to regulate heart and neurological ...
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 ...
Hypochromic anemia is a generic term for any type of anemia in which the red blood cells are paler than normal. ( Hypo - refers to less, and chromic means colour .) A normal red blood cell has a biconcave disk shape and will have an area of pallor in its center when viewed microscopically. In hypochromic cells, this area of central pallor is ...