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Doctor insights on: Genetics Of Hemochromatosis

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What does genetic inheritance of hemochromatosis mean?

What does genetic inheritance of hemochromatosis mean?

Inherited: Most primary hemochromatosis is passed parent-to-child, especially if each parent supplies one defective gene, though people with a single dose may be affected. If you're not familiar with basic genetics, you need to become familiar with the terminology as it's basic to life and understanding health and disease in the 21st century. ...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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Do environmental factors play a role in the progression of beta-thalassemia?

Do environmental factors play a role in the progression of beta-thalassemia?

No, but. . .: Environmental factors generally do not play a role in beta thalassemia. However, a patient can be worsened by conditions that typically worsen anemia, such as dietary iron deficiency, other nutrient deficiencies (such as folate (folic acid) or vitamin b12), lead poisoning, or infections with viruses that can cause anemia (such as parvovirus b19). Vacationing at high altitudes may cause symptoms of low oxygen. ...Read more

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What kind of genetic mutation causes refsum disease?

What kind of genetic mutation causes refsum disease?

Refsum's disease : The following link is a comprehensive review of Refum's disease by the nih. http://ghr.nlm.nih.gov/condition/refsum-disease ...Read more

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Who is the carrier of the genes that causes growth hormone deficiency ?

Who is the carrier of the genes that causes growth hormone deficiency
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Several possible: Genetic factors are thought to account for 5% of growth hormone deficiency. Three forms, an autosomal dominant, autosomal recessive or x-linked are known to exist. Without knowing if a genetic form is involved, or which subtype is present, it is hard to fully answer your question. ...Read more

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What's the pathological physiology of hemochromatosis?

What's the pathological physiology of hemochromatosis?

Iron: 400 characters aren't enough; there are websites, books and journal articles. These folks absorb iron too easily through the gut, and it ends up in the liver, heart, and endocrine pancreas where the atoms generate free radicals that do damage. ...Read more

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What level of genetic disorder is colorblindness?

Red green: Typically red-green color blindness is an x-linked single gene disorder affecting ~8% of the male population. ...Read more

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Isn't the diagnosis for hemochromatosis based on irish hemochromatosis? Other races like far east have different gene for iron overload

Isn't the diagnosis for hemochromatosis based on irish hemochromatosis? Other races like far east have different gene for iron overload

Let me help: Most hemochromatosis worldwide is caused by mutations at the hfe gene locus; most europeans with a worrisome mutation here have c282y, but there are other alleles at this locus, and several other less common loci. Further, having the gene won't give you the disease unless you actually get iron-overloaded, which is how we pick it up. Any primary care doc can diagnose & rx is easy. Stay proactive. ...Read more

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Pheochromocytoma and DNA familial inheritence, what's the relation?

Pheochromocytoma and DNA familial inheritence, what's the relation?

Rare: The incidence of pheochromocytoma is 3-8 per million. It's extremely rare. It can run in families - when this occurs, it's usually part of an inherited syndrome: multiple endocrine neoplasia, type 2A and 2B, neurofibromatosis type 1 and Von Hippel-Lindau syndrome. ...Read more

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Is amyloidosis in the liver genetic?

Is amyloidosis in the liver genetic?

It can be: Tough to answer in this format. There are 2 major types of amyloid: 1) al, and 2) aa. Al is due to a type of blood cell cancer (plasma cell), and aa is due to a wide variety of diseases that cause chronic inflammation (rheumatoid arthritis, chronic infections, among others). Most genetic studies have focused on how people form amyloid lesions, and there is some suggestion that this can be genetic. ...Read more

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Are hemochromatosis and diabetes linked?

Are hemochromatosis and diabetes linked?

Very much so: Untreated hemochromatosis ("bronze diabetes") will often cause diabetes that will self-cure when the hemochromatosis is treated. ...Read more

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Which environment factors influence the evolution of asperger's, parallel to the genetic factor?

Which environment factors influence the evolution of asperger's, parallel to the genetic factor?

Social interaction: Genetic issues are not really understood. Autism spectrum disorders are complex and evolve over time. We are seeing more children in whom autism symptoms resolve as they mature. Applied behavioral analysis and social interaction contribute much. ...Read more

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How much percent genetics and environmental play role in human height ?

How much percent  genetics and environmental  play role in human height ?

Cannot quantify: Hi. We cannot quantify what percentage is genetic and what percentage is environment in height or any other phenotype, but under normal circumstances (adequate nutrition, etc), for height it's mostly genetic. Disease can be classified in that assessment of phenotype as either environment or genetic, depending. ...Read more

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Is hairy cell leuchemia hereditary , my dad died from the consequences of this disease?

No: There's no familial tendency. I'm sorry about your dad. Nowadays, the illness is often fairly easy to manage. Best wishes. ...Read more

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What hereditary disease causes iron build up in the blood? Recessive or dominant?

What hereditary disease causes iron build up in the blood? Recessive or dominant?

Hemochromatosis: There are 4 different type of hemochromatosis. Type 1, the most common form and type 4 are adult-onset disorders.Type 2 is a juvenile-onset disorder and iron accumulation begins early in life, and symptoms may begin to appear in childhood.Onset of type 3 is usually intermediate between types 1 and 2. Type 1, 2, 3 are autosomal recessive. Type 4 is autosomal dominant. ...Read more

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The disease of white skin is genetically inherited?

Vitiligo: If you are referring to vitiligo, as far as i know, the current thinking is that it is related to genetic defect in the immune system, but if you are asking if it can be passed down from a parent, I have never seen or heard of this. ...Read more

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What factors increase height of mine?

What factors increase height of mine?

Genetics & nutrition: Of course genetics are the primary factor influencing the final adult height. However, good nutrition is also important. A well-balanced diet with adequate caloric intake, calcium and vitamin d will help to make sure growth is optimal. Your peditrician should be monitoring growth in regular intervals such that any problems with adequate height growth velocity are identified in a timely fashion. ...Read more

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Whar are the clinical manifestations of excessive alcohol consumption ?

Whar are the clinical manifestations of excessive alcohol consumption ?

Being drunk: Being intoxicated are the primary manifestations -- slurred speech, loss of control of fine motor movements, confusion with tasks requiring thinking, emotional instability, sometimes irritability, inappropriate laughter, staggering gait -- all the way to stupor and coma. If using despite harm to relationships and social responsibilities (like work) these are all signs of excessive use. ...Read more

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How are diagnoses of lysosome storage disorders differentiated from congenital disorders of glycosylation? References?

How are diagnoses of lysosome storage disorders differentiated from congenital disorders of glycosylation? References?

Difficult to differe: Lysosome storage disease, congenital disorders of glycosylation (cdg), peroxisomal disorders, smith-lemli-opitz are "single-gene disorders, most of which demonstrate autosomal-recessive inheritance. These 4 categories of metabolic diseases involve molecules important in cell membranes and share overlapping clinical presentations". (avery's diseases of the newborn, by w. Taeusch, 2005, p. 258). ...Read more

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Dr. (Liz)Phuong Tran
320 doctors shared insights

Hemochromatosis (Definition)

A medical condition caused by iron accumulation in the body. It can be the result of underlying hereditary disease or be due ...Read more