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What Chromosome Carries The Gene For Sickle Cell Anemia
Chromosome No. 11: Point mutation at beta-globin gene located at chromosome no. 11 results in production of defective hemoglobin, sickle hemoglobin.See 1 more doctor answer
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
The beta globin gene: Hemoglobin is a complicated molecule in red blood cells that carries oxygen from the lungs to the rest of the body. It contains 4 protein chains, 2 Alpha chains and 2 beta chains. Sickle cell disease is caused by specific mutation in the beta globin gene. We each have two beta globin genes. If one has the s mutation you have sickle trait; if both have the s mutation you have sickle cell anemia.See 1 more doctor answer
Several: There are several genetic defects that lead to sickle cell anemia. They all lead to a change in the 6th Amino Acid in the beta-globin chain in which valine is substituted for glutamic acid. At least 5 different dna mutations have been identified that all lead to the same Amino Acid substitution, and thus, sickle cell anemia.
Hiya, what are the causes of sickle cell anemia? I know it is inherited but I need it explained in a way that can tell me the causes of gene mutation.
Gene mutations: Are random. The sickle gene confers some resistance to malaria due to the abnormal configuration of hemoglobin. Sickle trait/sickle cell anemia is most prevalent in populations where malaria is or was endemic. It is likely that the mutation conferred some competitive advantage due to its antimalarial effects and was promulgated through natural selection.See 1 more doctor answer
In theory yes: As sickle cell anemia is a genetic disease, correction of the gene defect by stem cell transplantation or gene therapy would theoretically correct the genetic defect. Gene therapy is experimental at this time. Stem cell transplantation is more common, but is limited by the availability of suitable tissue matched donors. In either case, correction of the genetic defect will not fix prior strokes.See 1 more doctor answer
Replace gene: Gene therapy could be used to transfer a new replacement normal gene to cells producing red blood cells. That is how gene therapy would work however there are no approved gene therapy treatments for sickle cell anemia.
Inherited disease.: Sickle cell disease is genetic and is present at birth. It is inherited when a child receives two sickle cell genes—one from each parent. This disease is more common in blacks (people of african heritage). Sickle cell trait occurs when one sickle cell gene (“s”) is inherited from one parent and one normal gene (“a”) from the other. Those with trait are "carriers" and are often asymptomatic.See 1 more doctor answer
Yes: It is a defect present from birth, yes. Would I call it a birth defect, no. It is a genetically derived abnormality in the metabolism of hemoglobin that results in sickling of the red cells under some circumstances. As a metabolic disease, it is inherited in a similar fashion to pku or cystic fibrosis. The term birth defect is more appropriate for a kid with malformation of an organ or body part.
I Don't Think So: I'm guessing a bit as to what you mean by your question. Sickle cell anemia is caused by a gene mutation on both copies of the beta globin gene. In that sense it is a genetic disease. However, a number of other factors, some of them environmental, can influence the type and severity of problems that patients with ssa have.
Blood: The genetic defect is in the hemoglobin molecule.
Yes: A bone marrow transplant can replace the cells responsible for creating sickle cells with cells that produce normal hemoglobin. This is a very difficult and dangerous procedure that can lead to significant complications and death. This is why it is not routinely used to treat sickle cell anemia. Research is ongoing in attempts to have people with sickle cell anemia make normal blood cells.
Hemoglobinopathy: Patients with sickle cell anemia make an abnormal hemoglobin (hgb.). Normal HGB consists of paired protein chains (globin) and an iron containing part (heme). Patients with ssa inherit an abnormal beta-globin gene from each parent. Carriers have one normal beta-globin gene and one sickle beta globin gene. The carriers (trait) have no symptoms.
Anemia itself: Causes some symptoms. Sickle cells can decrease flow to organs and lead to bone pain and chest syndrome.
Sickle cell future: As we better understand sickle cell disease, we hope to increase the quality of life for those affected by this disease. It is essential for those who have this disease to see a physician who specializes in sickle cell. For those with very severe disease, bone marrow transplantation may offer a cure. For others, screening and healthy lifestyle choices will help manage their disease.
Everything: Pretty much everything. As the problem is on the red blood cell itself and red blood cells are circulating through out the whole body and every organ systems in the body. It will definitely affect the bone marrow, the blood system, as well as other organs like kidney, lung, vasculature, brain, heart etc.See 1 more doctor answer
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