Paroxysmal Nocturnal Hemoglobinuria (PNH) -
Questions With Correct Solutions
Save
Terms in this set (47)
Paroxysmal Nocturnal rare acquired disorder in hematopoietic stem cells
Hemoglobinuria (PNH) is a that results in an abnormality of the red blood cell
MEMBRANE.
Because PNH is an abnormality in the platelets and white blood cells
stem cell, it also affects
what causes the symptoms of PNH? the sensitivity of the red cells to lysis
Paroxysmal Nocturnal recurrent, episodic intravascular hemolysis that leads
Hemoglobinuria (PNH) is to severe anemia AND hemoglobinuria
characterized by:
PNH is also often associated with aplastic anemia
Where did the name PNH originate These episodes (HEMOLYSIS) can occur during the
from? NIGHT (nocturnal) , but it's actually more common
that the episodes will occur at random times.
PNH is the result of a somatic mutation in one of the pluripotent stem cells
in the bone marrow
What mutated gene is associated with phosphatidyl-inositol-glycan A, a.k.a. PIG-A, on the X
the following disease, chromosome.
PNH:
what is the purpose of the gene it's required for proteins to be linked to the plasma
product for the PIG-A gene? membrane through a GPI anchor
, approximately WHAT PERCENT of the 1%
membrane proteins are glycosyl-
phosphatidyl-inositol- or
(GPI)-anchored.
what happens when PIG-A gene is Without a functional product from the PIG-A gene,
defective? proteins cannot be GPI-anchored
because PNH is a somatic mutation a single pluripotent stem cell
that affects BLANK,
in the BEGINNING only a few of the
BM precursors will
have this mutation and it won't cause
as many problems.
overtime, a patient with PNH will have bone marrow
mutated cells accumulate in the
BLANK and the patient can present
with this mutation in anywhere from a
few precursors to almost all of the
precursors in the BLANK.
The more cells in the BM that have the PIG-A mutation associated with PNH
BLANK, the worse the symptoms will
be for the patient
PNH does not follow the usual pattern b/c of X inactivation that occurs in female cells - only
of a usual X-linked gene, WHY? one X chromosome is ever active in each individual
cell. Therefore, women, are just as susceptible to
getting PNH even though they have 2 Xs.
in an X linked gene, men are more NO, women are just as likely to develop PNH
likely to express a gene, is this the
case for PNH?
PNH leads to a deficiency in BLANK. cell surface glyco-phosphatidyl-inositol (GPI)
anchored proteins (CD55 and CD59)
Questions With Correct Solutions
Save
Terms in this set (47)
Paroxysmal Nocturnal rare acquired disorder in hematopoietic stem cells
Hemoglobinuria (PNH) is a that results in an abnormality of the red blood cell
MEMBRANE.
Because PNH is an abnormality in the platelets and white blood cells
stem cell, it also affects
what causes the symptoms of PNH? the sensitivity of the red cells to lysis
Paroxysmal Nocturnal recurrent, episodic intravascular hemolysis that leads
Hemoglobinuria (PNH) is to severe anemia AND hemoglobinuria
characterized by:
PNH is also often associated with aplastic anemia
Where did the name PNH originate These episodes (HEMOLYSIS) can occur during the
from? NIGHT (nocturnal) , but it's actually more common
that the episodes will occur at random times.
PNH is the result of a somatic mutation in one of the pluripotent stem cells
in the bone marrow
What mutated gene is associated with phosphatidyl-inositol-glycan A, a.k.a. PIG-A, on the X
the following disease, chromosome.
PNH:
what is the purpose of the gene it's required for proteins to be linked to the plasma
product for the PIG-A gene? membrane through a GPI anchor
, approximately WHAT PERCENT of the 1%
membrane proteins are glycosyl-
phosphatidyl-inositol- or
(GPI)-anchored.
what happens when PIG-A gene is Without a functional product from the PIG-A gene,
defective? proteins cannot be GPI-anchored
because PNH is a somatic mutation a single pluripotent stem cell
that affects BLANK,
in the BEGINNING only a few of the
BM precursors will
have this mutation and it won't cause
as many problems.
overtime, a patient with PNH will have bone marrow
mutated cells accumulate in the
BLANK and the patient can present
with this mutation in anywhere from a
few precursors to almost all of the
precursors in the BLANK.
The more cells in the BM that have the PIG-A mutation associated with PNH
BLANK, the worse the symptoms will
be for the patient
PNH does not follow the usual pattern b/c of X inactivation that occurs in female cells - only
of a usual X-linked gene, WHY? one X chromosome is ever active in each individual
cell. Therefore, women, are just as susceptible to
getting PNH even though they have 2 Xs.
in an X linked gene, men are more NO, women are just as likely to develop PNH
likely to express a gene, is this the
case for PNH?
PNH leads to a deficiency in BLANK. cell surface glyco-phosphatidyl-inositol (GPI)
anchored proteins (CD55 and CD59)
