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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).
Pathophysiology. The development of sickle cell nephropathy (SCN) typically occurs in childhood as seen in the appearance of hyperfiltration and proteinuria. [1] 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. [2]
It is a form of sickle cell crisis. Sickle cell anemia – most common in those of African, Hispanic, and Mediterranean origin – leads to sickle cell crisis when the circulation of blood vessels is obstructed by sickled red blood cells, causing ischemic injuries.
Hemoglobin S/thalassemia: common in African and Mediterranean populations, it is clinically similar to sickle-cell anemia, with the additional feature of splenomegaly. [ citation needed ] Hemoglobin C /thalassemia: common in Mediterranean and African populations, hemoglobin C/β o thalassemia causes a moderately severe hemolytic anemia with ...
The acute chest syndrome is a vaso-occlusive crisis of the pulmonary vasculature commonly seen in people with sickle cell anemia. This condition commonly manifests with a new opacification of the lung(s) on a chest x-ray.
Pathophysiology. Spherocytosis most often refers to hereditary spherocytosis. This is caused by a molecular defect in one or more of the proteins of the red blood cell cytoskeleton, including spectrin, ankyrin, Band 3, or Protein 4.2. Because the cell skeleton has a defect, the blood cell contracts to a sphere, which is its most surface tension ...
Sickle cell disease is a structural red blood cell disorder leading to consequences in multiple systems. It is characterized by chronic red blood cell destruction, vascular injury, and tissue ischemia causing damage to the brain , eyes, heart , lungs , kidneys , spleen , and musculoskeletal system .
Intrinsic causes. Hereditary (inherited) hemolytic anemia can be due to : Defects of red blood cell membrane production (as in hereditary spherocytosis and hereditary elliptocytosis). Defects in hemoglobin production (as in thalassemia, sickle-cell disease and congenital dyserythropoietic anemia).
Splenic sequestration crisis. Splenic sequestration crisis is a life-threatening illness common in pediatric patients with homozygous sickle cell disease and beta thalassemia. Up to 30% of these children may develop splenic sequestration crisis with a mortality rate of up to 15%.
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