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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).
Sickle cell anaemia: 1 in 625: Cystic fibrosis: 1 in 2,000 Tay–Sachs disease: 1 in 3,000 Phenylketonuria: 1 in 12,000 Autosomal recessive polycystic kidney disease: 1 in 20,000: Mucopolysaccharidoses: 1 in 25,000 Lysosomal acid lipase deficiency: 1 in 40,000 Glycogen storage diseases: 1 in 50,000 Galactosemia: 1 in 57,000 X-linked Duchenne ...
Diseases such as sickle cell disease that are caused by autosomal recessive disorders for which a person's normal phenotype or cell function may be restored in cells that have the disease by a normal copy of the gene that is mutated, may be a good candidate for gene therapy treatment.
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-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.
Hematopoietic stem-cell transplantation (HSCT) is the transplantation of multipotent hematopoietic stem cells, usually derived from bone marrow, peripheral blood, or umbilical cord blood, in order to replicate inside a patient and produce additional normal blood cells.
Disorders such as iron deficiency anemia, sickle cell anemia, megaloblastic anemia and microangiopathic hemolytic anemia result in characteristic abnormalities on the blood film. [2] The proportions of different types of white blood cells can be determined from the blood smear.
Sickle cell nephropathy is a type of nephropathy associated with sickle cell disease which causes kidney complications as a result of sickling of red blood cells in the small blood vessels.
Treatment. Depends on type (see types) Beta thalassemias ( β thalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals.