Hemolytic Anemias- Part 7: Paroxysmal nocturnal hemoglobinuria (PNH)

#ilovepathology #hemolyticanemia #pathology #medicalschoolpathology #pathology
Definition: Paroxysmal nocturnal hemoglobinuria (PNH) is a disease that results from acquired mutations in the phosphatidylinositol glycan complementation group A gene (PIGA), an enzyme that is essential for the synthesis of certain membrane-associated complement regulatory protein
Typical Clinical Triad: Intravascular hemolysis, Bone marrow failure, and propensity to Thromboembolism
History and Epidemiology: first described in the 18th century. It is a rare disease, with a worldwide prevalence estimated in the range of 1-5 cases per million regardless of ethnicity; an increased prevalence is reported in some regions which also harbor higher incidence of aplastic anemia (eg, Thailand and some other Asian countries)
Unique feature: only hemolytic anemia caused by an acquired genetic defect
Pathophysiology:
Somatic mutation in the Phosphatidylinositol glycan complement group A gene(PIGA gene)
[Cause: PIGA is X-linked and subject to lyonization (random inactivation of one X chromosome in cells of females) leading to a single acquired mutation in the active PIGA gene of any given cell]
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Deficient specialized phospholipid called glycosylphosphatidylinositol (GPI) linked protein in a hematopoetic stem cell
PNH blood cells are deficient in three GPI-linked proteins that regulate complement activity:
(1) Decay-accelerating factor or CD55
(2) Membrane inhibitor of reactive lysis or CD59

[@divpreetkaur9024]

Very concise and to the point explanation 👍👍

[@wonderwoman2102]

best lecture..thank you so much. may you be blessed with much more

[@tutorcomiv]

A great lecture ..everything is clear

[@ilovepathologyVijayPatho]

Thank you 😊

[@mohammadshuaibnazim7356]

Very comprehensive and concise explanation 👍

[@ilovepathologyVijayPatho]

Thank you 😊

[@anaystheatre234]

Wonderful explanation

[@waelfadlallah8939]

Great explanation

[@girishgopi1845]

Sir, at 4.06 , it is mentioned that PIGA gene is in Chromosome 10 ---it is in Ch X

[@poojasaini1985]

Great

[@tamerzahran8089]

can we have the slides

[@Lifechange77]

Sir what is solution pnh 😢

[@AnjaliSharma-rm8ho]

Thank you so much sir 🙏 and happy dussera.

[@ilovepathologyVijayPatho]

Thank you 😊 wish you the same 😊

[@durgaramasamy5711]

👍

[@muhammadfawad1761]

Piga gene on x chromos then u said its on 10 chromosome ...confused

[@debigdogk9563]

Hello sir , please just a question for clarification sake in 16:11 you mentioned Methemoglbin but wrote methealbumin on the screen. Please which is correct. Thank you again for your Great work. God bless you for teaching and sharing ❤❤❤❤

[@ilovepathologyVijayPatho]

Thats a great find! mistake from my side!
it is methheamalbumin as written on the slide..This complex has a brownish color and is a more relevant factor in the brown tint of plasma in PNH.

[@debigdogk9563]

@@ilovepathologyVijayPatho Awesome, thank you very much. Really helpful, would update my notes 🙏🏾🙏🏾🙏🏾🙏🏾🙏🏾

[@alec6840]

𝓅𝓇o𝓂o𝓈𝓂 ☀️

[@waelfadlallah8939]

Great explanation

[@ilovepathologyVijayPatho]

Thank you 😊