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Doctor insights on: Alpha 1 Antitrypsin Deficiency Genetics Birth Defects

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What is alpha 1 antitrypsin deficiency?

What is alpha 1 antitrypsin deficiency?

Genetic disease: It's quite variable in severity. The lack of the helpful antitrypsin protein in the blood prevents the neutralization of enzymes from white cells that tend to decrease the elasticity of the lungs. The enzyme itself accumulates in the liver which can't get it into the circulation and this can ruin the liver. This can happen at any age and no one knows why it varies so much; or the liver may be fine. ...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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Could alpha-1 antitrypsin deficiency couse emphysema ?

Could alpha-1 antitrypsin deficiency couse emphysema ?

YES: Alpha one deficiency is highly assosciated with the development of emphysema. ...Read more

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Sickle cell anemia:is this birth defect only due to genetics?

Sickle cell anemia:is this birth defect only due to genetics?

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

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Best diet for someone with Alpha 1 antitrypsins deficiency?

Best diet for someone with Alpha 1 antitrypsins deficiency?

Simply healthy: Hi AMonroe, The good news is that you don't any specific diet restrictions. Aim to stay in a healthy weight range with a BMI of 20-25. Choose fresh foods, eat plenty of vegetables and moderate amounts of fruits. The majority of your nutrient breakdown should be protein and carbs. Fats should be more omega-3s if possible. Stay active, sleep well. Hope this helps. ...Read more

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Can the following variant mutations in npc1 gene cause disease: snps c.644a>g, c.1926g>c, c.2572a>g, c.2793c>t, c.2911+28t>c, c.3754+34a>g, c.3797g>a?

Can the following variant mutations in npc1 gene cause disease: snps c.644a>g, c.1926g>c, c.2572a>g, c.2793c>t, c.2911+28t>c, c.3754+34a>g, c.3797g>a?

Love the question: Nuclear polymorphisms are interesting. The more we look, the more we find. If you are seriously ill there may be gene mutations found on testing. Whether these snps are cause for disease or just incidental is still a mystery. If you demand a cause for disease, they are a possibility. There is nothing to do about it. Without any disease, finding these snps on testing does not predict disease. ...Read more

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What are the chromosome defects affecting chromosome 10, 13 and trisomy 21?

What are the chromosome defects affecting chromosome 10, 13 and trisomy 21?

Many: There are numerous disorders that can happen with abnormalities of chromosomes 10 and 13. Too many to list here. Trisomy 21 means the person has an extra chromosome 21 and this is more commonly known as Down's syndrome. There are many possible phenotypic findings with this disorder, again too many to list here including physical characteristics, heart , hearing, vision, skeletal, developmental.... ...Read more

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Wife--tubal reversal in 07. 13 miscarriages/ 1 tubal. Dna karyotyping &autoimmunity normal.How would genetics effect this?Blood types me a- / her o+.

Wife--tubal reversal in 07. 13 miscarriages/ 1 tubal. Dna karyotyping &autoimmunity normal.How would genetics effect this?Blood types me a- / her o+.

MTHFR?: Have they tested for the mthfr 677 ; 1298 genotypes yet? It is a very common cause of infertility and neural tube defects leading to miscarriages. The more abnormal genes you have, the worse the problems can be. Can treat with bellevue pharmacy "s8"supplement (msg for details).Also check her for antibodies to sperm. Would need ivf if +. Blood type could be an issue (abo incompatibility) rh is ok! ...Read more

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Is omega 3 deficiency and vitamin a deficiency genetic?

Is omega 3 deficiency and vitamin a deficiency genetic?

Vitamin deficiency: Not usually. Vitamin deficiencies are usually due to dietary deficiencies, but rarely can be related to problems absorbing nutrients. That may be due to a genetic defect. ...Read more

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Can my heterozygotes status of congenital adrenal hyperplasia (21-Hydrolaxe deficiency, salt-wasting) explain hirsurtism & symptoms like polydipsia?

Can my heterozygotes status of congenital adrenal hyperplasia (21-Hydrolaxe deficiency, salt-wasting) explain hirsurtism & symptoms like polydipsia?

Maybe: Hydroxylase deficiency is actually a continuum, and there are many alleles. A workup is probably not worthwhile. Manage unwanted body hair with electrolysis or lasers -- you're doing yourself a favor. If your urinalysis (chemical, sediment), renal functions (BUN, creatinine) and concentrating ability (SG >1.020) while thirsty) are normal, I would not recommend further studies. ...Read more

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Could there be a connection between alpha 1 antitrypsin deficiency and smoking marijuana?

Could there be a connection between alpha 1 antitrypsin deficiency and smoking marijuana?

Not sure: This is an interesting question as Alpha 1 antitrypsin deficiency is not "caused" by cigarette smoking, but can certainly be aggravated by it. Thus, i think it is safe to say that any smoking may aggravate the symptoms of Alpha 1, but i don't think that there is a direct connection as smoking marijuana does not have primary affect on the enzyme activity. ...Read more

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Does alpha thalassemia causes leukemia?

Does alpha thalassemia causes leukemia?

No: Alpha and beta thalassemia have not been reported to cause leukemia, which is cancer of the white blood cells. There is a study of beta thal. Major & intermedia patients in iran, where researchers found 5 leukemia cases in about 4, 600 patients. That is a higher rate of leukemia than in the general population there, but details were unavailable as to what other factors were present in the patients. ...Read more

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Why we treat megaloblastic anemia caused by vitamin B12 deficiency with folates (folic acid)?

Why we treat megaloblastic anemia caused by vitamin B12 deficiency with folates (folic acid)?

We don't: Megaloblastic anemia caused by B12 deficiency is treated with b12. Folate (folic acid) deficiency also causes meg. Anemia. Some with B12 deficiency are also deficient in b12, but if one has low B12 ; isn't deficient in folate (folic acid) there's no need to supplement with it. But it won't hurt to take folate (folic acid);if you're among the 1/3 of people with problems converting Folic Acid to it's active form you should take l-5-mthf. ...Read more

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Positive mthfr heterozygous after multiple miscarriages, known pernicious anemia, what is the likelihood of having other b vitamin deficiencies?

Positive mthfr heterozygous after multiple miscarriages, known pernicious anemia, what is the likelihood of having other b vitamin deficiencies?

Not more likely but: Pernicious anemia is due to problems absorbing B12 but doesn't interfere with absorbing other vits.Mthfr mutations mean you have trouble converting Folic Acid to the active form, so take l-5-mthf.Genes don't affect absorption of other b vits but due to genetics some require higher amounts of b's than others-your other issues don't mean you're more likely to have this but it's safe to try b complex. ...Read more

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Effects of mtfhr gene heterozygous c/t over time? Most effective treatment folic acid or it's metabolite?

Effects of mtfhr gene heterozygous c/t over time? Most effective treatment folic acid or it's metabolite?

Unknown: I do not entirely understand your question (what does c/t over time mean?). The mtfhr gene mutation is associated with coronary artery disease. It is not clear if Folic Acid helps. It would be helpful to see an internist or a cardiologist to discuss risk reduction. ...Read more

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Open burning of waste increases dioxins which cause cancer, birth defects, immune deficiency?

Open burning of waste increases dioxins which cause cancer, birth defects, immune deficiency?

True.: Which is why we need environmental protections, to keep industry from doing things that hurt our health. They are motivated primarily by profit, it takes an epa to police them from releasing poisons. ...Read more

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Does heterozygous for MTHFR gene mutation affect pregnancy?, and what about taking synthetic folic acid supplement?

Does heterozygous for MTHFR gene mutation affect pregnancy?, and what about taking synthetic folic acid supplement?

Controversial...: Some studies have shown an association between the MTHFR gene mutation and recurrent miscarriages but this is controversial. Aside from this possibility, it doesn't cause problems with pregnancy. If you have this mutation, its a good idea to take folic acid, vitamin B-12 and Vitamen B-6. Aspirin is also sometimes recommended for women for who have had recurrent miscarriages. Best wishes! ...Read more

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Do all mthfr gene mutations benefit from folate over folic acid? Or certain stands? Is there different treatment for heterozygous v homozygous?

MTHFR : MTHFR has several forms. And treatments can vary. Look here for additional information. http://mthfr.net/mthfr-c677t-mutation-basic-protocol/2012/02/24/ ...Read more

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Is diabetes type 1 dominate or recessive trait?

Is diabetes type 1 dominate or recessive trait?

Neither: The tendency toward this disorder is influenced by heredity but not transmitted as a dominant or recessive. It falls into a category called "multifactorial" in which the genes in several different locations & possibly several chromosomes may come into play.Many conditions with about 5% inheritance risk fall into this category. ...Read more

Dr. Nikolaos Zacharias
841 doctors shared insights

Congenital Abnormalities (Definition)

Abnormalites that are present at birth. Also known as birth defects. For example- cleft palate is a congenital abnormalities. Another example congenital heart disease is the presence of a ...Read more


Dr. Theodore Davantzis
29 doctors shared insights

Inherited Emphysema (Definition)

Inherited emphysema = alpha-1 antitrypsin deficiency which can destroy lung tissue ...Read more