Alternative names erythrocyte reductasedeficiency is a name also the family famous for this as known as The Blue Fugates or The Blue People of Kentucky
Inheritance Pattern • It is autosomal recessive, With ¼ chance of having an affected off spring. ½ chance of a carrier and ¼ chance of an unaffected child.
Location • Unable to find location in my research, very rare disorder, further study is needed
Who gets it? • As far as we know so far, it is not limited to any race or gender, the most common family with this disorder is a white family from Kentucky but with no gender holding back the problem. The same problem that the disorder affects can be caused by being exposed to certain chemicals and drugs
Symptoms • The main characteristic of this disorder is the blue skin that gives the Smurf look. This is caused by the disorder giving the person a higher then normal amount of Methemoglobin in the blood and having red blood cells that lack the enzyme cytochrome b5 reductase.
How common? • Very rare disorder, being that most people who have it grow out of it and there skin dose not stay blue. Most known case is the Blue People of Kentucky who’s skin stayed blue there whole lives.
Deadly? • It can be deadly caused by blood problems associated with the disorder, like shortness of breath, and mental abilities
Lifespan? • The disorder dose not directly affect lifespan, unless you die of problems caused by some form of its symptoms.
Testing? • The disorder can be tested by the obvious blue skin and a blood test taken and tested for the causes of the disorder.
Cure? • Can be cured by reducing the level of methemoglobin in the blood
Support? • Yes there are support groups, but they are small and not very common, a lot are in the form of blogs such as http://www.experienceproject.com/groups/Have-Hereditary-Methemoglobinemia-Recessive/94447
Interesting fact? • A babe can get this condition wean being born and look blueish • People who get the disorder from chemicals are better of and survive if they avoid the chemical. • The blue men of Lurgan is another story of people with this disorder
Works cited • http://www.drugs.com/enc/methemoglobinemia.html • http://www.nlm.nih.gov/medlineplus/ency/article/000562.htm • http://www.medterms.com/script/main/art.asp?articlekey=15735 • http://www.rootsweb.ancestry.com/~kyperry3/Blue_Fugates_Troublesome_Creek.html