Doctor insights on:
What Chromosome Carries The Gene For Sickle Cell Anemia
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. ...Read moreSee 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. ...Read more
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. ...Read moreSee 1 more doctor answer
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. ...Read moreSee 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. ...Read more
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. ...Read more
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. ...Read more
This is a genetic disorder in which hemoglobin is abnormally made., more common in people of african descent. This abnormality causes red blood cells to become stiff and fall apart. This can cause very specific symptoms: pain, pneumonias, strokes, spleen problems, and many other problems. Some have mild disease, some ...Read more
Low blood count is also known as Anemia. Anemia is a condition in which the body has a decreased amount of healthy red blood cells, which normally provide oxygen to body tissues. Common causes may include certain medications, chronic diseases such as cancer, a poor ...Read more
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