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Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders typically inherited. [2] The most common type is known as sickle cell anemia. [2] It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2] This leads to a rigid, sickle -like shape under ...
The types of anemia treated with drugs are iron-deficiency anemia, thalassemia, aplastic anemia, hemolytic anemia, sickle cell anemia, and pernicious anemia, the most important of them being deficiency and sickle cell anemia with together 60% of market share because of highest prevalence as well as higher treatment costs compared with other ...
Hemoglobin S (α 2 β S 2) – A variant form of hemoglobin found in people with sickle cell disease. There is a variation in the β-chain gene, causing a change in the properties of hemoglobin, which results in sickling of red blood cells.
Such mutations are responsible for diseases such as Epidermolysis bullosa, sickle-cell disease, and SOD1-mediated ALS. [51] On the other hand, if a missense mutation occurs in an amino acid codon that results in the use of a different, but chemically similar, amino acid, then sometimes little or no change is rendered in the protein.
Sickle-cell anemia, which can cause blood cells to clump up and block blood vessels, can also lead to stroke. Stroke is the second leading cause of death in people under 20 with sickle-cell anemia. [52] Air pollution may also increase stroke risk. [53]
1 in 10,000 people [2] Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3][4][5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6] It may also appear later in life and then ...
Sickle-cell versions of hemoglobin stick to themselves, stacking to form fibers that distort the shape of red blood cells carrying the protein. These sickle-shaped cells no longer flow smoothly through blood vessels, having a tendency to clog or degrade, causing the medical problems associated with this disease. [citation needed]
However, in systemic lupus erythematosus it is 4 to 14%, [106] and in sickle cell disease, it ranges from 20 to 40%. [107] Up to 4% of people who develop a pulmonary embolism go on to develop chronic thromboembolic disease including pulmonary hypertension. [ 40 ]