Increased Defects in RBCs and Enzyme Deficiencies (Exam 2)

Onset of RBC destruction can be ______ or ______.

acute, chronic

In terms of genetics, RBC destruction can be ______ or ______.

inherited, acquired

RBC destruction can be classified as ______ or ______.

intrinsic, extrinsic

Intrinsic RBC destruction occurs due to a defect in the ______.

RBC itself

Intrinsic RBC destruction is mainly due to ______ disorders.

membrane

Extrinsic RBC lysis occurs due to conditions ______ the RBC.

outside

Extrinsic RBC lysis is mostly due to ______ against the RBC membrane.

antibodies

RBC hemolysis can occur ______ or ______ (site).

intravascularly, extravascularly

Intravascular hemolysis occurs by ______ within the bloodstream/spleen/BM.

fragmentation

Extravascular hemolysis is ______-mediated in the spleen.

macrophage

Hemolysis is detected through RBC breakdown ______.

products (ex. bilirubin)

When hemoglobin is broken down, ______ and ______ cannot necessarily be detected due to salvage/recycling.

iron, amino acids

______ is catabolized and excreted as ______, which can be detected.

Protoporphyrin, bilirubin

Upon its creation, unconjugated/indirect bilirubin binds to ______ for transport to the ______.

albumin, liver

In the liver, bilirubin is conjugated to ______.

glucaronic acid

This is carried out by ______, and the resulting product is ______ bilirubin.

glucuronyl transferase, conjugated/direct bilirubin

Conjugated bilirubin is degraded in the gut to ______.

urobilinogen

Urobilinogen is oxidized to ______, which is excreted in stool.

stercobilin

Some conjugated bilirubin and urobilinogen are absorbed back into the ______ or excreted in the ______.

liver, urine

When RBCs are lysed in the blood and Hgb is released, the Hgb molecule is broken down into ______.

alpha beta dimers

These dimers are picked up by ______, forming a complex.

haptoglobin

The haptoglobin-hemoglobin complex goes toward the extravascular hemolysis path, in which processing can occur in the ______ or ______.

liver, kidney

If in the liver, the haptoglobin-hemoglobin complex is ingested by ______, and subsequently catabolized.

macrophages

If in the kidney, ______ occurs.

reuptake

When hemoglobin is too high for full reuptake, ______ occurs.

hemoglobinuria

When in the urinary tract, Hgb gets oxidized into ______ and ______.

oxyhemoglobin, methemoglobin

Free Hgb not re-absorbed or bound to haptoglobin is bound to ______.

hemopexin

Excess free Hgb binds to ______.

albumin (becomes methemalbumin)

In the laboratory, LDH and fecal urobilinogen are ______ during hemolysis.

increased

With hemolysis, ______ levels are decreased.

haptoglobin

Increased erythropoiesis during hemolysis causes increased ______.

reticulocytes

MCV, leukocytosis, and thrombocytosis are ______ during hemolysis.

increased

In the peripheral blood, what cells are observed during hemolysis?

- Schistocytes

- Spherocytes

- Polychromasia

In the BM, the M:E ratio is ______.

decreased (1.5:1)

During intravascular hemolysis, ______ has an initial spike and decrease.

hemoglobinuria

Over the next 10 days, there will be an increase in ______ and ______.

serum haptoglobin, hemosiderinuria

With intravascular hemolysis, plasma and urine will both be ______ in color.

brown

Intravascular hemolysis caused ______ urine and decreased serum ______.

red, haptoglobin

The CBC during intravascular hemolysis shows ______.

schistocytes

Comparing intravascular and extravascular hemolysis, what are the levels for serum LDH and haptoglobin?

Intravascular: Increased LDH, decreased haptoglobin

Extravascular: No/slight increase in LDH, no/slight decrease in haptoglobin

Comparing intravascular and extravascular hemolysis, what are the levels for schistocytes and spherocytes?

Intravascular: Schistocytes

Extravascular: Spherocytes

What are the diseases classified as intrinsic, leading to RBC destruction?

Hereditary spherocytosis/elliptocytosis/stomatocytosis, and acanthocytosis

Hereditary spherocytosis includes genetic mutations in one of what genes?

- Ankyrin

- Alpha/beta-spectrin

- Protein 4.2

- SLC4A1 (band 3)

These genetic mutations lead to loss of membrane support, producing ______ cells.

spherical (spherocytes)

What S/Sx are associated with hereditary spherocytosis?

- Anemia

- Jaundice

- Splenomegaly

Hereditary spherocytosis will show ______ MCHC and RDW.

elevated

Hereditary spherocytosis will also cause ______ serum unconjugated bilirubin and LDH.

increased

Osmotic fragility is ______ with hereditary spherocytosis.

increased

Hereditary elliptocytosis occurs due to mutations in one of the following genes ...

- Alpha/beta-spectrin

- Protein 4.1

Hereditary elliptocytosis yields ______ cells.

elliptical (elliptocytes)

What are the three types of hereditary elliptocytosis?

- Common

- Spherocytic

- Southeast Asian Ovallocytosis

Common hereditary elliptocytosis shows ______ in the peripheral blood.

elliptocytes

Spherocytic hereditary elliptocytosis shows ______ and ______ in the peripheral blood.

spherocytes, elliptocytes

Southeast Asian ovalocytosis (a type of hereditary elliptocytosis) shows ______ in the blood.

ovalocytes

Hereditary pyropoikilocytosis is rare and causes severe ______ and ______.

hemolytic anemia, poikilocytosis

Hereditary stomatocytosis (hydrocytosis) occurs due to a defect in ______.

Na+/K+ pumps

This defect causes an influx of ______ and ______ into the RBC.

Na+, water

Most patients with hereditary stomatocytosis (hydrocytosis) have a deficiency in the membrane protein ______.

stomatin

Hereditary stomatocytosis (hydrocytosis) yields ______ in the peripheral blood.

stomatocytes (5-50%)

In the lab, hereditary stomatocytosis (hydrocytosis) causes ______ MCV, RBC Na+, and osmotic fragility.

increased

Hereditary stomatocytosis (hydrocytosis) causes a decreased in RBC ______.

K+

Acquired stomatocytosis occurs with ...

- Acute alcoholism

- Drug therapy

- Marathon runners

Acanthocytosis occurs when there is a defect in ______.

membrane phospholipids

Acanthocytosis will have an increase in membrane ______ and a decrease in ______.

sphingomyelin, phsophatidylcholine

These changes cause an abnormal ______ of plasma phospholipids.

distribution

This abnormal distribution leads to decreased membrane ______ and subsequent RBC shape change.

fluidity

Decreased ______ and ______ are accompanied with acanthocytosis.

triglycerides, cholesterol

What are the two enzyme deficiencies in hemolysis?

- G6PD

- PK

G6PD deficiency can prevent full breakdown of ______.

glucose

Because glucose cannot be fully broken down, G6PD deficiency causes a lack of ______ and shortened cell ______.

ATP, survival

G6PD deficiency is often triggered by certain ______.

offensive agents (foods, drugs, chemicals)

There are classes ______ of G6PD deficiency.

I-V (most to least severe)

In the lab, G6PD deficiency will show ______ with New Methylene Blue staining.

Heinz bodies

Pyruvate kinase (PK) deficiency is ______ in inheritance.

autosomal recessive

PK is essential in the conversion of phosphoenolpyruvate to ______ with concurrent regeneration of ______.

pyruvate, ATP

The lack of ATP with PK deficiency causes a ______ cell that is removed by ______ in the spleen/liver.

rigid, macrophages

In the lab, PK deficiency causes increased ______ and ______.

indirect bilirubin, fecal urobilinogen

PK deficiency will also show ______, ______, and decreased ______.

reticulocytosis, echinocytes, haptoglobin