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Doctor insights on: Prothrombin Mutation

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Is factor 7 gene mutation (heterozygote) thrombophila?

Is factor 7 gene mutation (heterozygote) thrombophila?

No: Factor 7 mutation is very rare and causes increased risk of bleeding (not being able to clot). Factor 5 deficiency is the most common form of thrombophilia (increased risk of abnormal clotting). ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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What is a prothrombin gene mutation? It is something worth worrying about whether you have it or not?

What is a prothrombin gene mutation? It is something worth worrying about whether you have it or not?

PGM: Prothrombin gene mutation is an inherited coagulopathy. This means that if you have this gene mutation, you can be at increased risk of forming clots in certain veins in your body. These clots can be dangerous and even lead to death. We do not routinely check for this mutation but do order this test if a young patient develops a deep blood clot. ...Read more

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Is hemophilia a gene mutation?

Yes: Both hemophilia a and b are due to mutations in genes on the x chromosome. ...Read more

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Does mthfr heterozygous c677t mutation affect pregnancy?

Likely not much: The existing evidence does not support any strong connection between heterozygotes for either the c or a mutations of mthfr and poor pregnancy outcomes. Homozygotes may well be at greater risk. Depending on clinical history, different levels or surveillance and possible intervention can be considered. ...Read more

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What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

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What is a hereditary hemochromatosis DNA mutation?

What is a hereditary hemochromatosis DNA mutation?

Gene Mutation: This is a mutation in one of the genes that help to process iron absorption. The mutation, if present in 2 copies, can cause too much iron to be absorbed. The excess iron then deposits in other organs and can cause disease - cirrhosis, diabetes, impotence. Having only one mutation may not lead to disease. You should discuss this with your doctor to see if you are at risk of developing disease. ...Read more

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Is hereditary angioedema type III a genetic mutation?

The big unknown: This is a big unknown question, some people have a mutation that can cause type iii and others have an unkown kind that responds to treatments of hae. ...Read more

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Dr. Jay Park Dr. Park
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Is williams syndrome a gene or chromosomal mutation ?

Dr. Jay Park Dr. Park
2 doctors agreed:
Is williams syndrome a gene or chromosomal mutation ?

Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...Read more

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Dr. Jay Park Dr. Park
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What chromosome carries the gene for sickle cell anemia?

Dr. Jay Park Dr. Park
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Chromosome No. 11: Point mutation at beta-globin gene located at chromosome no. 11 results in production of defective hemoglobin, sickle hemoglobin. ...Read more

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Etiology of DNA mutations?

Etiology of DNA mutations?

Replication error: Most changes in dna come from errors in the duplication of the dna. But changes can occur in the structure from radiation and some chemicals especially those used in chemotherapy. Most mutations are harmless, some are tracked down by your normal reparative mechanism but a few can cause trouble including cancer. ...Read more

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I'm female 61. Was told I have prothrombin mutation g20210a. I take vit D3 with vit k daily for bone health. Should i stop taking vitamin k?

I'm female 61. Was told I have prothrombin mutation g20210a. I take vit D3 with vit k  daily for bone health. Should i stop taking vitamin k?

Speak with your doc: With the information you have provided, there is no reason to stop taking vitamin k. However, this should be discussed with your primary care physician, or with a hematologist. ...Read more

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What chromosome is mutated in sickle cell disease?

What chromosome is mutated in sickle cell disease?

11: The beta globin gene is mutated in sickle cell anemia; it is located on chromosome 11. ...Read more

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Factor viii inhibitor in hemophilia? What is a factor viii inhibitor?

Factor viii inhibitor in hemophilia? What is a factor viii inhibitor?

Antibody to factor: Viii protein. People who are deficient in factor viii, i.e., have severe hemophilia, are treated with infusion of factor viii. Some make antibodies to factor viii and inhibit its function and are called factor viii inhibitors. Rarely non-hemophiliac can also develop such an inhibitor. ...Read more

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How do a gene mutation and a chromosomal mutation differ?

Mutations: A chromosome will contain many genes, so a chromosome mutation will effect many genes. A gene mutation will have an effect only on that gene. ...Read more

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Sickle trait is a recessive gene?

basically yes: The mutation that causes sickle cell disease is a recessive mutation in that you need two copies of the changed gene to have the disease (or one copy plus another mutation on the other gene like beta thalassemia, hemoglobin c, hemoglobin e, etc). If you only have one copy, you have sickle cell trait. ...Read more

Dr. Shimae Fitzgibbons
212 doctors shared insights

Prothrombin Time (Definition)

Prothrombin time provides information regarding the extrinsic pathway involved in clot formation. It's commonly used ...Read more