| Popis: |
Sickle cell anemia is a disease in which the body produces crescent-shaped red blood cells or sickles. The cells do not last long as the normal ones, which results in a low number of red blood cells(anaemia). The sickle cells also get stuck in blood vessels and block blood flow, which also carries white blood cells. The affected exhibit symptoms such as anemia repeated infections, and periodic pain episodes called crises. The condition is brought about by changes in the HBB gene and is inherited in an autosomal recessive pattern. Autosomal inheritance means the genes are located in the somatic genes (non-sex chromosomes). The sickle cell gene is a recessive gene implying that both copies of the responsible gene must have a disease-causing change for a person to have the disease. An individual with an autosomal recessive disease receives a gene with a pathogenic variant from each parent, with each parent being a carrier. When two carriers of the autosomal recessive disease have a child, they have a 1 in 4 chance of having a child with sickle cell disease. Genes come in pairs, each set from the mother and the other from the father. To be born with sickle cell disease, one must inherit a copy of the sickle cell gene from both parents. This change happens when both parents are carriers of the sickle cell gene, also referred to as having the sickle cell trait. It can also happen when one parent has a sickle cell disease, and the other parent has the sickle cell trait. Sickle cell carriers show no visible symptoms nor experience the severe effects of the disease, but there is a chance their children could have sickle cell disease |
