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Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders typically inherited. The most common type is known as sickle cell anemia. It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells.
Sickle cell trait describes a condition in which a person has one abnormal allele of the hemoglobin beta gene (is heterozygous), but does not display the severe symptoms of sickle cell disease that occur in a person who has two copies of that allele (is homozygous).
The Hb Lepore trait has a worldwide distribution and may affect individuals of various ethnicities however the three main varieties which been defined tend to be more prevalent among specific ethnic groups, typically Caucasians of the Southern regions Central and Eastern Europe.
It is used to treat life-threatening complications of sickle cell disease such as stroke or acute chest crisis. [4] There are three main benefits of an exchange transfusion compared to a simple transfusion, these relate primarily to the ability to remove hemoglobin S containing red blood cells: [5]
A common example is the case where the heterozygote conveys both advantages and disadvantages, while both homozygotes convey a disadvantage. A well-established case of heterozygote advantage is that of the gene involved in sickle cell anaemia.
His description of the student's disease was known for many years as Herrick's syndrome, and is now known as sickle-cell disease. The condition is prevalent in West Africa . Herrick's second major contribution was a landmark article on myocardial infarction ("heart attack") in JAMA in 1912.
Gene editing therapies aimed at increasing fetal hemoglobin production in beta thalassemia as well as sickle cell anemia by inhibiting the BCL11A gene are also being explored. Surgical. Patients with thalassemia major are more inclined to have a splenectomy.
The development of sickle cell nephropathy (SCN) typically occurs in childhood as seen in the appearance of hyperfiltration and proteinuria. Both are primarily caused by the polymerization of sickle cells in the kidney microvasculature due to the low O 2 tension, high osmolarity, and low acidity.
Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from being relatively benign and like sickle cell trait to being similar to sickle cell disease. [1] [2]
Hereditary spherocytosis ( HS) is a congenital hemolytic disorder wherein a genetic mutation coding for a structural membrane protein phenotype causes the red blood cells to be sphere-shaped ( spherocytosis ), rather than the normal biconcave disk shape.
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