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1. Introduction
2. Outline
3. Methemoglobin
4. Normal oxygen transport
5. Methemoglobinemia: two pronged attack
6. Hb O2-saturation curve
7. Methemoglobinemia and cyanosis
8. Methemoglobin reduction (1)
9. Methemoglobinemia
10. Causes of methemoglobinemia
11. NADH cytochrome b5 reductase
12. CytB5R gene - structure
13. Cytb5R deficiency (RCM) type I
14. Cytb5R deficiency type II
15. RCM type I versus type II
16. Indian mutation codon 217 - Leu to Pro (L217P)
17. Crystal structure of wt cytb5R and L217P mutation
18. Crystal structures - effect of heat
19. Cytb5R amino acid sequence
20. Reported mutations of B5R gene
21. Red cell enzymopathies
22. Cytb5R deficiency
23. Differential diagnosis of methemoglobinemia
24. Methemoglobin reduction (2)
25. Methemoglobinemia therapy (1)
26. Methemoglobinemia therapy (2)
27. Thank you

Topics Covered

• Formation of methemoglobinemia
• Review of methemoglobinemias types
• Cytochrome b5 reductase (Cytb5 R)
• Mutations and clinical phenotypes of Cytb5 R deficiency
• Differential diagnosis from other methemoglobinemias
• Therapy of methemoglobinemia

Links

Series:

• Protein Epidemiology

Categories:

• Biochemistry
• Cell Biology
• Clinical Practice

Therapeutic Areas:

• Haematology

Talk Citation

Prchal, J. (2007, October 1). Cytochrome b5 reductase deficiency and hereditary methemoglobinemia [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 15, 2025, from https://doi.org/10.69645/ZBJE7397.
Export Citation (RIS)

Publication History

• Published on October 1, 2007
• Archived on February 27, 2018

Financial Disclosures

• Prof. Josef Prchal has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.