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Doctor insights on: Homozygous Mthfr Gene 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

Genetic (Definition)

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


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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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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

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Could anybody get the mthfr-a1298c gene mutation?

Could anybody get the mthfr-a1298c gene mutation?

Depends: The MTHFR 1298 mutation is not uncommon, but for any given individual to have the possibility of having it, one or both of their parents must have it. ...Read more

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Are gene mutations common? What about deletions?

Are gene mutations common? What about deletions?

Gene mutations: Truthfully, the human genome project has revealed that mutations are common. Deletions exist. The impact is not fully understood. But is real. ...Read more

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Does alpha thalassemia trait have gene therapy available?

Does alpha thalassemia trait have gene therapy available?

No: Alpha thalassemia trait only causes mild anemia, and the person usually has no symptoms. Gene therapy is not available and would not be needed. ...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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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 the beta-thalassemia gene recessive or dominant?

Is the beta-thalassemia gene recessive or dominant?

Neither: People normally have 2 beta globulin genes. A mutation in one or both genes leads to 3 levels of beta thalassemia. The genetics of the disorder is not all-or-none nor dominant-recessive. Instead, more or worse mutations causes worse disease. One mutation = beta thal trait (mild symptoms), 2 mutations = beta thal intermedia (transfusions sometimes) or beta thal major (lifelong transfusions needed). ...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
2 doctors agreed:

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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Is homocystinuria a gene disorder?

Is homocystinuria a gene disorder?

Yes: Homocystinuria is an inherited genetic disorder that impairs the metabolism of the Amino Acid methionine. It is a recessive disorder, which means that you have to have two faulty copies of the gene (inherited singularly from each parent) to be cinically affected. ...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

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

Dr. Jay Park Dr. Park
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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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Beta thalesemic carrier state...Meaning?

Genes: To have beta thalessemia, you have to have 2 copies of a particular gene. If you only have 1 copy, you don't have the disease, but you do carry the trait, and can pass it to your children. If your partner also is a carrier of the gene, then there is a 1 in 4 chance that your child will have beta thalessimia. ...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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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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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


Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their ...Read more