Blue Fugates

Last updated
Fugates
CountryUnited States of America
Current regionKentucky
Founded1820
FounderMartin Fugate
Susan Williams
Final headBenjamin Stacy
MembersBenjamin Stacy

The Fugates, commonly known as the "Blue Fugates" [1] or the "Blue People of Kentucky", are an ancestral family living in the hills of Kentucky starting in the 19th century, where they are known for having a genetic trait that led to the blood disorder methemoglobinemia, causing the skin to appear blue.

Contents

Ancestry

Martin Fugate and Elizabeth Smith, [2] who had married and settled near Hazard, Kentucky, in around 1820, were both carriers of the recessive methemoglobinemia (met-H) gene. As a result, four of their nine children exhibited blue skin. Their continued reproduction within the limited local gene pool along with a lack of transportation infrastructure ensured that many descendants of the Fugates were born with met-H. [3] [4] [5]

The disorder can cause heart abnormalities and seizures if the amount of methemoglobin in the blood exceeds 20 percent, but at levels between 10 and 20 percent it can cause blue skin without other symptoms. Most of the Fugates lived long and healthy lives. The "bluest" of the blue Fugates, Luna Stacy, had 13 children and lived to age 84. [6]

Descendants with the gene continued to live near Troublesome Creek and Ball Creek into the 20th century. They eventually came to the attention of the hematologist Madison Cawein III, who with the assistance of the nurse Ruth Pendergrass made a detailed study of their condition and ancestry. [2] [7] Based on a report published in the Journal of Clinical Investigation in 1960 by a public health physician named E. M. Scott, who had studied a similar phenomenon among native Alaskans, Cawein concluded that a deficiency of the enzyme diaphorase resulted in an oxygen deficiency in the red blood cells, causing the blood to appear brown, which in turn made the skin of those affected appear blue. [5] He treated the family with methylene blue, which eased their symptoms and reduced the blue coloring of their skin. [8] His findings were published in the Archives of Internal Medicine in 1964. [9]

Benjamin Stacy, born in 1975, was the last known descendant of the Fugates to have been born exhibiting the characteristic blue color of the disorder, though he quickly lost his blue skin tone, exhibiting only blue tinges on his lips and fingertips when he became cold or agitated. [5]

In 2019, the novel The Book Woman of Troublesome Creek , by Kim Michele Richardson, described a fictional version of the Fugate family during the Great Depression.

In 2021, the novel Blue-Skinned Gods by S. J. Sindu references a family from Kentucky with methemoglobinemia but does not use the surname Fugate.

A reference to "the Huntsville subgroup" is made in the American version of television sitcom Shameless when Kevin Ball (played by Steve Howey) discovers that he may have ancestors from that group. [10]

See also

Related Research Articles

<span class="mw-page-title-main">Methemoglobinemia</span> Condition of elevated methemoglobin in the blood

Methemoglobinemia, or methaemoglobinaemia, is a condition of elevated methemoglobin in the blood. Symptoms may include headache, dizziness, shortness of breath, nausea, poor muscle coordination, and blue-colored skin (cyanosis). Complications may include seizures and heart arrhythmias.

<span class="mw-page-title-main">Cyanosis</span> Decreased oxygen in the blood

Cyanosis is the change of body tissue color to a bluish-purple hue, as a result of decrease in the amount of oxygen bound to the hemoglobin in the red blood cells of the capillary bed. Cyanosis is apparent usually in the body tissues covered with thin skin, including the mucous membranes, lips, nail beds, and ear lobes. Some medications may cause discoloration such as medications containing amiodarone or silver. Furthermore, mongolian spots, large birthmarks, and the consumption of food products with blue or purple dyes can also result in the bluish skin tissue discoloration and may be mistaken for cyanosis. Appropriate physical examination and history taking is a crucial part to diagnose cyanosis. Management of cyanosis involves treating the main cause, as cyanosis isn’t a disease, it is a symptom.

<span class="mw-page-title-main">Glucose-6-phosphate dehydrogenase deficiency</span> Medical condition

Glucose-6-phosphate dehydrogenase deficiency (G6PDD), also known as favism, is the most common enzyme deficiency anemia worldwide. It is an inborn error of metabolism that predisposes to red blood cell breakdown. Most of the time, those who are affected have no symptoms. Following a specific trigger, symptoms such as yellowish skin, dark urine, shortness of breath, and feeling tired may develop. Complications can include anemia and newborn jaundice. Some people never have symptoms.

<span class="mw-page-title-main">Blue baby syndrome</span> Two situations that lead to cyanosis in infants

Blue baby syndrome can refer to conditions that cause cyanosis, or blueness of the skin, in babies as a result of low oxygen levels in the blood. This term has traditionally been applied to cyanosis as a result of:.

  1. Cyanotic heart disease, which is a category of congenital heart defect that results in low levels of oxygen in the blood. This can be caused by either reduced blood flow to the lungs or mixing of oxygenated and deoxygenated blood.
  2. Methemoglobinemia, which is a disease defined by high levels of methemoglobin in the blood. Increased levels of methemoglobin prevent oxygen from being released into the tissues and result in hypoxemia.
<span class="mw-page-title-main">Bleeding diathesis</span> Medical condition

In medicine (hematology), bleeding diathesis is an unusual susceptibility to bleed (hemorrhage) mostly due to hypocoagulability, in turn caused by a coagulopathy. Therefore, this may result in the reduction of platelets being produced and leads to excessive bleeding. Several types of coagulopathy are distinguished, ranging from mild to lethal. Coagulopathy can be caused by thinning of the skin, such that the skin is weakened and is bruised easily and frequently without any trauma or injury to the body. Also, coagulopathy can be contributed by impaired wound healing or impaired clot formation.

<span class="mw-page-title-main">Methemoglobin</span> Type of hemoglobin

Methemoglobin (British: methaemoglobin, shortened MetHb) (pronounced "met-hemoglobin") is a hemoglobin in the form of metalloprotein, in which the iron in the heme group is in the Fe3+ (ferric) state, not the Fe2+ (ferrous) of normal hemoglobin. Sometimes, it is also referred to as ferrihemoglobin. Methemoglobin cannot bind oxygen, which means it cannot carry oxygen to tissues. It is bluish chocolate-brown in color. In human blood a trace amount of methemoglobin is normally produced spontaneously, but when present in excess the blood becomes abnormally dark bluish brown. The NADH-dependent enzyme methemoglobin reductase (a type of diaphorase) is responsible for converting methemoglobin back to hemoglobin.

<span class="mw-page-title-main">X-linked recessive inheritance</span> Mode of inheritance

X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers.

<span class="mw-page-title-main">X-linked ichthyosis</span> Medical condition

X-linked ichthyosis is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the STS gene. XLI can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms. The term is from the Ancient Greek 'ichthys' meaning 'fish'.

<span class="mw-page-title-main">Metabolic disorder</span> Medical condition

A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are autosomal recessive.

<span class="mw-page-title-main">Chédiak–Higashi syndrome</span> Medical condition

Chédiak–Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.

<span class="mw-page-title-main">Biotinidase deficiency</span> Medical condition

Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency.

<span class="mw-page-title-main">Factor VII deficiency</span> Medical condition

Factor VII deficiency is a bleeding disorder characterized by a lack in the production of Factor VII (FVII) (proconvertin), a protein that causes blood to clot in the coagulation cascade. After a trauma factor VII initiates the process of coagulation in conjunction with tissue factor in the extrinsic pathway.

Blue people may refer to:

<span class="mw-page-title-main">Prolidase deficiency</span> Medical condition

Prolidase deficiency (PD) is an extremely uncommon autosomal recessive disorder associated with collagen metabolism that affects connective tissues and thus a diverse array of organ systems more broadly, though it is extremely inconsistent in its expression.

<span class="mw-page-title-main">CYB5R3</span> Protein-coding gene in the species Homo sapiens

NADH-cytochrome b5 reductase 3 is an enzyme that in humans is encoded by the CYB5R3 gene.

<span class="mw-page-title-main">Fibrinogen deficiency</span> Medical condition

Fibrinogen deficiency, also known as factor I deficiency, is a rare inherited bleeding disorder related to fibrinogen function in the coagulation cascade. It is typically subclassified into four distinct fibrinogen disorders: afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia.

<span class="mw-page-title-main">Troublesome Creek (North Fork Kentucky River tributary)</span> River in Kentucky, USA

Troublesome Creek is a creek in Breathitt, Perry and Knott counties, Kentucky, a fork of the North Fork Kentucky River. It is 41.46 miles (66.72 km) long with a gradient of 8.92 feet per mile (168.9 cm/km), normally free-flowing, and with banks that vary between tree-lined and open.

<i>The Book Woman of Troublesome Creek</i> 2019 novel by Kim Michele Richardson

The Book Woman of Troublesome Creek is a 2019 novel by Kim Michele Richardson. The story is a fictionalized account of real subjects in the history of eastern Kentucky. Cussy Mary is a "Book Woman" — one of the Packhorse Librarians who delivered books to remote areas of the Appalachian Mountains during the Great Depression, from 1935 to 1943, as part of President Franklin D. Roosevelt's Works Progress Administration (WPA) program. Cussy Mary is also a "Blue" — the last of a line of blue-skinned people, whose skin appears the unusual shade due to a rare genetic disorder. As a Book Woman, Cussy Mary is highly regarded, but as a Blue, she is feared and reviled, and experiences racism, discrimination and violence.

<span class="mw-page-title-main">Hemoglobin M disease</span> Medical condition

Hemoglobin M disease is a rare form of hemoglobinopathy, characterized by the presence of hemoglobin M (HbM) and elevated methemoglobin (metHb) level in blood. HbM is an altered form of hemoglobin (Hb) due to point mutation occurring in globin-encoding genes, mostly involving tyrosine substitution for proximal (F8) or distal (E7) histidine residues. HbM variants are inherited as autosomal dominant disorders and have altered oxygen affinity. The pathophysiology of hemoglobin M disease involves heme iron autoxidation promoted by heme pocket structural alteration.

References

  1. ↑ "Blue-skinned family baffled science for 150 years". MSN. 24 February 2012. Archived from the original on January 22, 2013. Retrieved 10 May 2013.
  2. 1 2 Trost, Cathy (November 1982). "The Blue People of Troublesome Creek" (PDF). Science 82. Archived (PDF) from the original on September 27, 2015.
  3. ↑ Adams, Cecil (July 24, 1998). "Is there really a race of blue people?". The Straight Dope. Archived from the original on November 26, 2021. Retrieved April 22, 2021.
  4. ↑ "Rare disease turns mountaineers blue". Phoenix, Arizona: Arizona Republic. November 7, 1974. p. 12. Archived from the original on April 15, 2019. Retrieved April 3, 2019– via Newspapers.com.
  5. 1 2 3 James, Susan Donaldson (February 22, 2012). "Fugates of Kentucky: Skin Bluer than Lake Louise". ABC News . Archived from the original on March 18, 2012. Retrieved October 4, 2014.
  6. ↑ "Fugates of Kentucky: Skin Bluer than Lake Louise". ABC News . Archived from the original on March 18, 2012. Retrieved June 3, 2022.
  7. ↑ James, Susan Donaldson (March 8, 2012). "Blue People Look for Genetic Connection to Kentucky Fugates". ABC News . Archived from the original on October 17, 2014. Retrieved October 4, 2014.
  8. ↑ Davis, Lyle E. (January 19, 2006). "The Blue People of Troublesome Creek". The Paper. Archived from the original on July 19, 2019. Retrieved November 4, 2014.
  9. ↑ Cawein, M.; Behlen, Charles H.; Lappat, E. J.; Cohn, J. E. (1964). "Hereditary Diaphorase Deficiency and Methemoglobinemia". Archives of Internal Medicine . 113 (4): 578–85. doi:10.1001/archinte.1964.00280100086014. PMID   14109019.
  10. ↑ "God Bless Her Rotting Soul". Shameless. Season 8. Episode 3. November 19, 2017. Showtime. You have a very rare chromosomal pattern, Mr. Ball. You are, more specifically, one in two billion. Were you aware you are from the Huntsville subgroup?
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