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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 ...
Hematology. 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). Those who are heterozygous for the sickle cell allele produce both ...
Photomicrograph of normal-shaped and sickle-shape red blood cells from a patient with sickle cell disease. Sickle cell anemia is a genetic disease that causes deformed red blood cells with a rigid, crescent shape instead of the normal flexible, round shape. [29] It is caused by a change in one nucleotide, a point mutation [30] in the HBB gene.
Mendelian traits in humans. A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
A comparison between an unaffected individual and an individual with sickle cell anaemia illustrating the different red blood cell shapes and differing blood flow within blood vessels. Sickle cell disease is a group of diseases caused by a mutation in a subunit of hemoglobin, a protein found in red blood cells responsible for transporting oxygen.
Hemoglobin is an oxygen-binding protein, found in erythrocytes, which transports oxygen from the lungs to the tissues. [2] Hemoglobin A is the most common adult form of hemoglobin and exists as a tetramer containing two alpha subunits and two beta subunits (α2β2). [3] Hemoglobin A2 (HbA2) is a less common adult form of hemoglobin and is ...
Compound heterozygosity. In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles ...
James Van Gundia Neel (March 22, 1915 – February 1, 2000) was an American geneticist who played a key role in the development of human genetics as a field of research in the United States. He made important contributions to the emergence of genetic epidemiology [1] and pursued an understanding of the influence of environment on genes.