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Methemoglobinemia- The Blue Fugates

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by

Grace Carter

on 21 January 2013

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Transcript of Methemoglobinemia- The Blue Fugates

Cyanosis and The Blue Fugates Methemoglobinemia: Methemglobinemia: a disorder which involves a person having too much methemoglobin in their blood. What Is Methemglobinemia? Shortness of breath What Are The Sypmtoms? Headaches Exercise Intolerance Cyanosis (having blue-tinted skin) People with severe Methemglobinemia may experience seizures or even go into a coma. Cyanosis is a coloration of the skin which appears to be blue or purple and results from a lack of oxygen in the tissues near the skin. What Is Cyanosis? The Circulatory System There are 3 parts to the circulatory system: The Heart, The Blood, and the Blood Vessels The purpose of the heart is to keep the blood flowing all around the body The purpose of the blood is to transport water, oxygen, nutrients and waste products to various locations around the body. The purpose of the blood vessels is to carry oxygenated blood away from the heart (Arteries), take blood back to the heart (Veins), and pass nutrients, oxygen and waste in and out of the blood (Capillaries). Effect of Methemoglobinemia On The Blood All red blood cells in every body have Methemogloben. However, most people have less than one percent of it in their red blood cells. Methemoglobinemia is characterized by having more than 1 percent methemoglobin in the red blood cells. For people with only 1% -15% methemogloben, there are no negative side-effects, but it does result in your skin turning a blueish tint and your blood turning brown. After 15%, neurological problems may arise, and after 70% it can result in death. Effect of Methemoglobinemia On The Blood There are two types of methemoglobinemia where both parents have the gene but not necessarily the traits. These occur when there are issues with the enzyme cytochrome b5 reductase, which helps control the amount of iron in your blood. Type 1 and Type 2 Type 1 (also called erythrocyte reductase deficiency) occurs when red blood cells lack the enzyme cytochrome b5 reductase. Diagnosis Arterial Blood Gases Test: An arterial blood gases test is a blood test usually taken from an artery in the wrist. This test measures the levels of concentration of acidity, carbon dioxide, and oxygen. They are taken using very thin needles and only use a very small sample of blood.
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.
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