METHEMEGLOBINEMIA

How It Got It's Name?
MET:"between or behind"
HEMO:"blood"
GLOBIN:"protein part that involves with the transport of oxygen"
EMIA:"blood condition"
•a blood condition that is behind in transporting oxygen throughout ones body

PHENOTYPES/SYMPTOMS OF DISORDER

• Bluish coloring of skin
• Intellectual Disabilities
• More likely to be diagnosed with other diseases including cyanosis, etc.
• Seizures
• Failure to thrive

Hemoglobin
•carries oxygen from lungs throughout ones body so cellular respiration can occur
• an enzyme called cytochrome b5 reductase controls the amount of iron in red blood cells
•one of 33 mutations occurs which causes an increase of iron in heme molecules by reducing CYB5R3
•increase of iron in heme molecules makes oxygen not able to bind to the hemes
•mutated hemoglobin gene is less active

LOCATION OF GENE

HOW DISORDER AFFECTS HEMOGLOBIN
•deletions are common with the cause of methemoglobinemia
•one or a couple of base pairs are deleted from the mRNA sequence which causes the ribosomes to make the wrong amino acids leading to a change in the protein
•All amino acids after the deletion are affected/changed
•above shows an example of deletion is shown

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AUTOSOMAL RECESSIVE MUTANT ALLELE

Life Experiences For People with Methemoglobinemia
-they feel like outsiders from other human beings
-They live normal lives like every other person in this world
-Most end up dying

Bibliography