The Blue People of Troublesome Creek suffer from a recessive genetic disorder characterised by a failure of diaphorase production and/or its function. The condition leads to the accumulation of MetHb with consequent blue coloration of the skin.
What is the Troublesome Creek?
Jan 14, 2020 · Why are the Blue People of Troublesome Creek Blue? Martin Fugate, a French orphan, married a woman named Elizabeth around 1820. They settled in Troublesome Creek, Kentucky. Unbeknownst to the couple, they were coincidentally both carriers of a recessive gene (met-H) that caused methemoglobinemia, which can tint the skin of sufferers blue.
What happened to the Blue people of Kentucky?
Dec 22, 2020 · Dark blue lips and fingernails are the only traces of Martin Fugate’s legacy left in the boy; that, and the recessive gene that has shaded many of the Fugates and their kin blue for the past 162 years. They’re known simply as the “blue people” in the hills and hollows around Troublesome and Ball Creeks.
Who are the Blue people of the hills?
Nov 08, 2021 · Since rail lines and paved roads didn't make it out to Troublesome Creek for nearly a century, the blue recessive gene was passed down to generations of Fugates and neighboring families, all of whom came to be known as "the blue people of Kentucky." Why Their Blood Turned Blue Methemoglobinemia is a blood condition, not a skin condition.
Why did the Fugates of Kentucky have blue skin?
diaphoraseis able to reduce the iron in MetHb to regenerate Hb. The Blue People of Troublesome Creek suffer from a recessive genetic disorder characterised by a failure of diaphorase production and/or its function. The condition leads to the accumulation of MetHb with consequent blue coloration of the skin.
Why does inbreeding cause blue skin?
A recessive gene was pairing with itself to change the molecular composition of their blood, making it brown as opposed to red, which tinted their skin blue.Sep 19, 2012
Why are Blue Fugates blue?
For the Fugate family, the excessive amount of blue methemoglobin in their blood turned their skin color blue. This blood disorder is the result of a recessive gene, and so requires that both parents of a child have the recessive gene for the disorder to appear in their offspring.Nov 21, 2021
What is the cure for methemoglobinemia?
Methylene blue is used to treat severe cases of MetHb, and doctors may prescribe ascorbic acid to reduce the level of methemoglobin in the blood. In severe cases, a person may require a blood transfusion or exchange transfusion. Oxygen therapy will also be provided, if required.Dec 23, 2017
Is Troublesome Creek a real place?
Troublesome Creek is a real place in Breathitt, Perry and Knott counties. The Pack Horse Library Project was a real effort to bring books to Eastern Kentucky between the years of 1935-1943.Jan 27, 2021
When Two Strangers Lost the Genetic Lottery
Martin Fugate arrived in the unsettled frontier of Kentucky in 1820. He was a French orphan who knew nothing of his lineage. Legend has it that Martin himself may have had a blue tinge to his skin, but not the dark blue color of later Fugates.
Why Their Blood Turned Blue
Methemoglobinemia is a blood condition, not a skin condition. It has nothing to do with melanin, the amino acid that gives people darker skin tones. In people with methemoglobinemia, the skin appears blue because the veins beneath the skin are coursing with dark blue blood.
Is There a Cure for Blue Skin?
Methemoglobinemia is one of the rare genetic conditions that's treatable with a simple pill.
What Happened to the Blue People?
When young people started moving away from the farms surrounding Troublesome Creek in the mid-20th century, they took their recessive blue genes with them. Over time, fewer and fewer babies were born blue, and those who were took a methylene blue pill once a day to put the pink back in their cheeks.
Who was the nurse that helped the blue people of Kentucky?
Then Dr Madison Cawein arrived in the sixties. He had heard rumors of the blue people of Kentucky and recruited a nurse called Ruth Pendergrass to help him in his investigations.
What is Benjamin Stacy's genetic condition?
He has a rare genetic condition that has turned his skin a striking indigo blue. The couple went on to have seven children and four of them, like their father, had blue skin. Fast forward to the seventies and Benjamin Stacy has just been born. Stacy is the great-great-great-great-grandson of Martin Fugate and Elizabeth Smith – but by this point, ...
Where did the blue people live?
Known as the blue people, the Fugates and others afflicted with the condition lived in the Kentucky hills of Troublesome and Balls Creek through the late 1950s. While most lived to their 80s and 90s without serious illness, the blue people suffered discrimination from their strangely tinted skin.Their story became famous in an article, ...
What are the symptoms of methemoglobinemia?
In addition to the bluish coloring of the skin, more extreme types of the disorder may include symptoms such as developmental delay, mental retardation, heart problems and seizures.
What is the cause of a fugate?
According to ABC News, the Fugates most likely suffered from a deficiency in the enzyme known as cytochrome-b5 methemoglobin reductase , which causes recessive congenital methemoglobinemia. The disorder can be diagnosed today with a blood, test though instances of methemoglobinemia are rare.
What is the name of the disorder that Cawein discovered?
Cawein discovered that members of the family suffered from methemoglobinemia, a rare hereditary blood disorder characterized by an abnormal amount of methemoglobin -- a form of hemoglobin -- in the blood.
Can methemoglobinemia be inherited?
Methemoglobinemia can be inherited or it can be caused by exposure to certain drugs, foods or chemicals. It was common among the Fugates and in Troublesome Creek due to the close genetic exchanges resulting from inbreeding. There are variations of methemoglobinemia that develop depending on how the disorder was passed to an individual.
What happens if you have blue fugates?
When those levels rise to greater than 20 percent, heart abnormalities and seizures and even death can occur. But at levels of between 10 and 20 percent a person can develop blue skin without any other symptoms. Most of blue Fugates never suffered any health effects and lived into their 80s and 90s.
Why is my blood color purple?
Patients' lips are purple, the skin looks blue and the blood is "chocolate colored" because it is not oxygenated, according to Tefferi.
What is the name of the blood disorder in which an abnormal amount of methemoglobin is produced?
Methemoglobinemia is a blood disorder in which an abnormal amount of methemoglobin -- a form of hemoglobin -- is produced, according to the National Institutes for Health. Hemoglobin is responsible for distributing oxygen to the body and without oxygen, the heart, brain and muscles can die.
What are the causes of methemoglobinemia?
The genetic form of methemoglobinemia is caused by one of several genetic defects, according to Tefferi.
Who is Benjy's father?
Benjy's father, Alva Stacy showed Trost his family tree and remarked, "If you'll notice -- I'm kin to myself," according to Trost. One of Martin and Elizabeth Fugate's blue boys, Zachariah, married his mother's sister. One of their sons, Levy, married a Ritchie girl and had eight children, one of them Luna.
Who discovered the blue skin?
The doctor suspected methemoglobinemia and uncovered a 1960 report in the Journal of Clinical Investigation. Dr. E. M. Scott, who worked in public health at the Arctic Research Center in Anchorage, had seen a recessive genetic trait among Alaskans that turned their skin blue.
Does diaphorase turn methemoglobin back to hemoglobin?
Normally diaphorase converts methemoglobin back to hemoglobin. All of the blue Fugates he tested had the enzyme deficiency, just like the Alaskans Scott had observed. Their blood had accumulated so much of the blue molecule that it over-powered the red hemoglobin that normally turns skin pink in most Caucasians.
