Doctor insights on:
Alpha Globin Gene Del Or Dup
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
My brother has alpha 1 antiitrypsin gene with his liver affected, Awaiting my own results ..what are my odds of having it? Should my kids be tested?
Variable: Alpha 1 antitrypsin disease results (usually) when two unaffected carriers donate their recessive gene to the offspring. With 2 abnormal genes, the medical condition can be expressed. If you share the same parents, you have 3 potential outcomes. Normal,with two normal genes; a carrier with one normal and one abnormal: or you have it but don't know it(unlikely). 2:1 carrier than normal ...Read more
Electrophoresis, but: Levels of hemoglobin h and hemoglobin barts should make the distinction straightforward though there may be modifying genes that could make interpretation. The real question is the implications in planning your family and for this perhaps you would like to have genetic testing done. Any hematologist would probably enjoy helping you out. Good luck. ...Read more
Alpha fetal protein: AFP is a fetal specific globulin, synthesized by the fetal yolk sac, gastrointestinal tract, and liver. The function of AFP is unknown. AFP blood levels can be measured during the second trimester to screen for open spina bifida and anencephaly, but can also uncover fetal abnormalities such as abdominal wall defects. AFP is also used in screening tests for downs syndrome and edwards syndrome. ...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
Depends: Hla dq Alpha 0501 hla dq beta 0201 or 0302. ...Read more
Yes: One copy of the beta-globin gene mutation causing sickle hemoglobin is called sickle trait--the other normal copy (most genes are paired) makes sufficient normal globin to prevent disease. If you as a person with sickle trait (carrier of sickle cell disease) marry someone with sickle trait, then you have a 25% chance to have a child with sickle cell disease with each pregnancy. ...Read moreSee 1 more doctor answer
Depends on geography: Given the single base change responsible for sickle cell trait in the beta globin gene, the frequency of new mutations is essentially zero. According to the cdc in the usa, 8-10% of african americans have sickle cell trait and 0.2% have sickle cell disease. Conversely, in western africa, the prevalence of sickle cell trait is 30-40%. ...Read more
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
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