Hereditary Methemoglobinemia

Hereditary methemoglobinemia is most commonly referred to as "the blue people disease" or "met-h". It is believed that this disease started in Kentucky with the blue Fugates of troublesome creek. It was started about six generations ago with a man named Martin Fugate. He was a French orphan. Martin came here with his red-headed American bride (Elizabeth Smith). Her skin was as pale as pale could get. They had seven children, four of them are believed to have blue colored skin. The clan of them kept multiplying. Fugates married Fugates and sometimes they even married first cousins. The Fugates lived in isolation with the Combses, Smiths, Ritchies, and Stacys; so it was natural when the boy married the girl next door (even if she had the same last name).

Eventually a boy named Benjy Stacy was born. The doctors were perplexed by the color of his skin and took many tests, but they couldn't come up with an answer to why his skin was discolored. Then his relatives told the doctor about Luna Fugate. Luna was called "the bluest woman I've ever saw".He had hereditary methemoglobinemia and we also now know what causes this disease.

Hereditary methemoglobinemia is extremely rare. It is a condition in which hemoglobin (the molecule in blood that carries oxygen) is defective and cannot carry oxygen. Iron molecules are normally present in hemoglobin in the chemically "reduced" state. Only in this state can they carry oxygen. In methemoglobinemia, the heme iron is in the "oxidized" state in which it is chemically impossible for it to carry oxygen. Reduced molecules prevent normally oxidized molecules from delivering oxygen normally. The defective hemoglobin is called methemoglobin (metHb).

Hereditary met-H is caused by a recessive gene(A mode of inheritance where an affected individual must possess two copies of a non-working gene, one from each parent. Without both copies, the person will not be affected with the disease. What this means is that most children with these types of diseases will have unaffected parents. Males and females are equally likely to be affected. The recurrence risk of each child of an affected parent is 25%.)

If only one parent has this gene offspring will have normal-hued skin, but if both parents carry the gene there is a chance the offspring will have blue-hued skin. All this basically means that the iron in your red blood pigment is defective which makes it unable to carry oxygen effectively to your tissues.

The person who has this disease has a deficiency in an enzyme (A protein that speeds up chemical reactions in the body.) That helps return methemoglobin to normal hemoglobin (a protein in red blood cells that carries oxygen throughout the body) by reducing heme iron.

The only way a person can be infected with hereditary