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Methemoglobinemia- The Blue Fugates
Transcript of Methemoglobinemia- The Blue Fugates
Oximetry Test: An oximetry test uses a device called an oximeter, which is placed on a person and used to measure the amount of oxygen in their blood. This device monitors the oxygen of a persons hemoglobin. It is non-invasive, which means that is does not enter the body like a needle. Prognosis Type 2 (also called generalized reductase deficiency) occurs when the enzyme cytochrome b5 reductase doesn't work anywhere in the body. Type 2 is much more serious and deadly than Type 1. People who have type 1 methemoglobinemia usually live to their full life expectancy. The only effect that is commonly seen in type 1 patients is the blue appearance of the skin.
People with type 2 methemoglobinemia on the other hand, usually die as infants or withtin the first few years of life. Treatment Very severe methemoglobinemia can be treated by using a medicine called methylene blue which turns methemoglobin into a different variation of hemoglobin that can more effectively transport oxygen through the blood.
Ascorbic acid can be used to lower the level of methemoglobin in the blood. Ascorbic acid is a form of vitamin C that can help lower the concentration of ineffective methemoglobin in the blood.
Methemoglobin can often go untreated without severe problems.
In extreme cases a person may simply need a blood transfusion of the concentration of methemoglobin is too high. Punnet Square for Mothemoglobinemia This Punnett Square shows the possible offspring for parents who are homozygous and heterozygous recessive for the trait of mothemoglobinemia, which is a recessive trait. There is a 50% chance that their children will have mothemglobinemia, and those who do not have the disorder will still be carriers. The Blue Fugates are a family in remote Kentucky who lived in a very isolated area with hardly any contact from the outside world. Martin Fugate immigrated to Kentucky from France over a century ago, bring his trait for mothemoglobenemia, and blue skin, along with him. Due to the fact that there were very few people around, the Fugates became a very large family and intermarried amongst themselves, which led to the continuation of the recessive trait for mothemoglobinemia. Recently, a Fugate boy was born with blue skin, which was a huge surprise as the cyanosis had skipped 2 generations. Who Are the Blue Fugates? The Frequency of Methemglobinemia in the USA How Mothemoglobinemia Is Passed Along The Fugates' Pedigree The Circulatory System - Grace Carter, Claire Sturr And Adam Racobaldo Thanks For Watching! Methemoglobin is an altered form of hemoglobin which cannot bind with oxygen.