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A 48-year-old member asked:

genetic disorder methemoglobinemia (blue person disease), can you tell me more?

1 doctor answer2 doctors weighed in
Dr. Anna-Kaisa Niemi
Clinical Genetics 16 years experience
Methemoglobinemia: Methemoglobinemia is called "blue man disease" because blood has a blue tint (instead of red) due to methemoglobin. It can be caused by ingestion of certain drugs or compounds. A genetic form is due to nadh-cytochrome b5 reductase deficiency (an enzyme) which causes decreased oxygen carrying capacity of the blood, with resultant cyanosis (=blueness) and hypoxia (low oxygen in blood).

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Should I get genetic counseling?

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Yes: More and more genetic information is available every day. For people who are trying to conceive, genetic counseling can help you have a healthier pregnancy by making you aware of possible risks and recommending appropriate genetic tests. These days, it is possible to prevent transmission of genetic mutations and disease via pgd: preimplantation genetic diagnosis. More info at www.Sbivf.Com.
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A 21-year-old member asked:

If a person is diagnosed with primary dystonia but there is no family history, does that mean its not genetic?

2 doctor answers5 doctors weighed in
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Dr. Danielle Jonesanswered
Obstetrics and Gynecology 8 years experience
No: Typically the word "primary" in reference to dystonias is used to talk about genetically-associated dystonias. Not having a known family history of the disease does not necessarily mean it is not genetic. Some of the dystonias that are genetic are passed down through carriers which can make them relatively rare, even among families of carriers.
A 37-year-old member asked:

Tell me about the genetic disorder methemoglobinemia (blue person disease)?

1 doctor answer1 doctor weighed in
Dr. Gurmukh Singh
Pathology 49 years experience
Abnormal hemoglobin: Methhemoglobin is an abnormal form of hemoglobin, usually due to oxidative damage. Some inherited forms of hemoglobins are more susceptible to such damage and could be said to be due to gene disorder.

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Last updated May 8, 2015

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