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Methemoglobinemia

Methemoglobinemia. Liza and Makena. WHAT IS IT?. Autosomal recessive genetic disorder Hereditary/Acquirable Bluish skin color/darker blood color (chocolaty brown) Three types of methemoglobinemia: Erythrocyte Reductase Deficiency Methemoglobinemia (inheritable)

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Methemoglobinemia

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  1. Methemoglobinemia Liza and Makena

  2. WHAT IS IT? • Autosomal recessive genetic disorder • Hereditary/Acquirable • Bluish skin color/darker blood color (chocolaty brown) • Three types of methemoglobinemia: • Erythrocyte Reductase Deficiency Methemoglobinemia (inheritable) • Deficiency of the enzyme in the red blood cells • Generalized Reductase Deficiency Methemoglobinemia (iheritable) • The enzyme isn't able to work in the body • Enzyme = cytochrome b5 reductase • Hemoglobin M is the second inheritable disease (most rare): • It's caused by defects in the hemoglobin molecule • One parent only needs this abnormal gene to pass to their offspring • Acquired methemoglobinemia (more common to be found): • People can get this disease when exposed to certain drugs, chemicals, and nitrates • For example: Benzocaine, chloroquine, dapsone

  3. HOW IS IT CAUSED? Methemoglobinemia Type 1: • Chromosome 22q13 is affected • Red blood cells contain methemoglobin (and not hemoglobin) at levels higher than 1% • Iron is in ferric form (methemoglobin) not ferrous form (hemoglobin)  • Methemoglobin is unable to release a sufficient amount of oxygen to organs and tissues which causes all these symptoms Methemoglobinemia Type 2: • Quite fatal  • Only one parents needs this mutation to cause this severe type 2 methemoglobinemia to their offspring

  4. HOW COMMON IS IT? • Very rare red cell disorder  • Both parents need to pass on the recessive allele for the child to obtain this autosomal recessive genetic disorder • Unknown actual frequency

  5. PHENOTYPE AND GENOTYPE

  6. DIAGNOSIS AND SYMPTOMS: Symptoms: • Cyanosis is present (blue pigmented skin) For type 1: • Blueish coloring of the skin • Chocolatey brown color to blood For type 2: • Development delays in child • Intellectual disability • Failure to thrive in the child • Seizures For acquirable methemoglobinemia: • Bluish coloring of the skin • Fatigue • Headache • Lack of energy • Shortness of breath

  7. TREATEMENTS: • Methylene blue • Fast medication that helps people with hereditary methemoglobinemia • Blood Transfusion • Ascorbic acid • Decreases the level of methemoglobin • Hyperbaric Oxygen Therapy • Aspirin Therapy

  8. TECHNOLOGY ASSOCIATED WITH IT: Peripheral Blood Examination: • A smear of blood put on a glass microscope slide and then stained in such a way as to allow the various blood cells to be examined microscopically. Arterial Blood Gas Examination: • Taking out blood from an artery so that an accurate measurement of oxygen and carbon dioxide levels can be obtained.

  9. METHYLENE BLUE  • Methylene blue is a mild antiseptic, it kills bacteria in the urinary tract • Its also a dye/ staining agent to make tissues and body fluids easier to view during surgery or x-ray or other diagnostic exams.

  10. TECHNOLOGY ASSOCIATED WITH IT (CONT): • Methylene blue is the primary emergency treatment for documented symptomatic methemoglobinemia • Methylene blue is not a long term treatment for methemoglobinemia but a fast antidote for emergency cases • Intravenous (existing in veins) (IV) methylene blue is the first-line antidote • Exchange transfusion and hyperbaric oxygen treatment are second-line options for patients with severe methemoglobinemia, • When the methemoglobinemia is life threatening and the patient cant be treated with methylene blue the patient will be transferred to a facility that can provide critical care.

  11. BIBLIOGRAPHY • A. (2017, November 15). Methemoglobinemia. Retrieved April 28, 2018, from https://coreem.net/core/methemoglobinemia/ • Autosomal recessive congenital methemoglobinemia - Genetics Home Reference. (2017, May 1). Retrieved May 1, 2018, from https://ghr.nlm.nih.gov/condition/autosomal-recessive-congenital-methemoglobinemia • EPainAssist, T. (2018, February 12). What is Methemoglobinemia|Causes|Symptoms|Treatment|Prognosis|Types|Pathophysiology|Diagnosis. Retrieved April 28, 2018, from https://www.epainassist.com/blood-diseases/what-is-methemoglobinemia • Kim, E. (2018, April 18). Ms. Kim's OneNote [Scholarly project]. Retrieved April 28, 2018. • M, B. (2012). Methemoglobinemia: Causes, Diagnosis, and Treatment. Retrieved April 28, 2018, from https://www.healthline.com/health/methemoglobinemia#treatment • McRobb, C. M., & Holt, D. W. (2008, September). Methylene Blue-induced Methemoglobinemia during Cardiopulmonary Bypass? A Case Report and Literature Review. Retrieved April 28, 2018, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4680649/ • Methemoglobin. (2018, April 10). Retrieved April 28, 2018, from https://en.wikipedia.org/wiki/Methemoglobin • Methemoglobinemia. (2018, April 30). Retrieved April 28, 2018, from https://en.wikipedia.org/wiki/Methemoglobinemia • M. (2017, November 14). Methemoglobinemia. Retrieved April 28, 2018, from https://emedicine.medscape.com/article/204178-overview • M. (2017, November 14). Methemoglobinemia Treatment & Management. Retrieved April 28, 2018, from https://emedicine.medscape.com/article/204178-treatment • O. (2008, November 24). Hereditary methemoglobinemia. Retrieved April 28, 2018, from https://rarediseases.info.nih.gov/diseases/2659/hereditary-methemoglobinemia

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