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Sickle cell disease is a group of inherited blood disorders, caused by a genetic abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [57] Under certain circumstances, this leads to the red blood cells adopting an abnormal sickle -like shape; with this shape, they are unable to deform as they pass through capillaries ...
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions.
Myelodysplastic syndrome (MDS) is a form of blood cancer in which the bone marrow no longer produces enough healthy, normal blood cells. [9] MDS are a frequently unrecognized and rare group of bone marrow failure disorders, yet the incidence rate has rose from 143 reported cases in 1973 to approximately 15,000 cases in the United States each year.
Many affected individuals also have heart disease, often involving enlarged or diseased heart valves. Another lysosomal storage disease often confused with the mucopolysaccharidoses is mucolipidosis. In this disorder, excessive amounts of fatty materials known as lipids (another principal component of living cells) are stored, in addition to ...
Hematologic diseases are disorders which primarily affect the blood and blood-forming organs. Hematologic diseases include rare genetic disorders, anemia , HIV , sickle cell disease and complications from chemotherapy or transfusions.
The word leukemia, which means 'white blood', is derived from the characteristic high white blood cell count that presents in most affected people before treatment. The high number of white blood cells is apparent when a blood sample is viewed under a microscope, with the extra white blood cells frequently being immature or dysfunctional. The ...
Several ribosomopathies share features such as inherited bone marrow failure, which is characterized a reduced number of blood cells and by a predisposition to cancer. [5] Other features can include skeletal abnormalities and growth retardation. [16] However, clinically these diseases are distinct, and do not show a consistent set of features. [16]
Hydrolases secreted into the blood stream cause little problem as they are inactivate at the near neutral pH of blood (7.4). [citation needed] It can be associated with N-acetylglucosamine-1-phosphate transferase (GNPTA). [6] In a case report, I-cell disease was complicated by severe dilative cardiomyopathy (DCM). [7]