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83 Cards in this Set

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What is erythropoiesis?
The process of red blood cell formation
Generally, what is the balance between creation and destruction of RBCs? What's the turnover rate?

What's the main stimulus for erythropoiesis?
O2 deficiency
What's the sensor in oxygen deficiency that causes erythropoiesis?
The kidney
What system removes old RBCs from the circulation?
Reticluendotheilial system
What is hemolysis?
Accelerated destruction and/or clearance of RBCs
What are the secondary effects of hemolysis?
Decreased O2 delivery to tissues--> hypoxia --> erythropoietin --> increased RBC production by marrow
What's typically released from RBCs during hemolysis?

What protein does free Hgb bind to in the serum?
What is the breakdown product of hemoglobin?
Iron + unconjugated bilirubin
What are the laboratory findings during hemolysis?
Elevated serum free Hgb
High serum LDH
Low serum haptoglobin
High unconjugated bilirubin

High reticulocyte count
What are some of the ways that bilirubin is excreted?
Fecally: urobilinogen
Urine: urobilinogen
What is the pathway that bilirubin takes to be excreted?
1. Breakdown in blood
2. Unconjugated bilirubin (or bilirubin conjugated to Z protein,glucuronic acid) transported toliver
3. Enters biliary system
4. In small intestine broken down by a bacterial protease
5. 90% excreted inFECES

If lots and lots of bilirubin, you can have excretion in the kidney
What is the definition of compensating hemolysis?
Hemolysis without anemia/mild decrease in Hg

Accelerated destruction is matched by increased production
How much of the RBC volume can the marrow compensate for?
What is the definition of a hemolytic anemia?
The destruction of RBC >> production
What are the different types of congenital anemias?
Sickle cell
G6PD deficiency
What are some of the different types of acquired hemolytic anemias?
Autoimmune hemolysis
Drug induced
What are some of the differences that you'll find between an intravascular hemolytic anemia and extravascular?
Intravascular: hemoglobinemia, hemoglobinuria, consumption of the haptoglobin
What are some of the intrinsic causes of hemolytic anemias?
RBC membranes
RBC cytoplasmic enzymes
Abnormal Hgb
What are some of the extrinsic factors that can cause hemolytic anemias?
Acquired coditions
Mechanical destruction
What are some labs that you should order up to determine the etiology of a hemolysis?
Blood smear
Hgb electrophoresis
RBC fragility test
RBC enzyme level assay
Specific mutation studies
Coomb's test
What congenital hemolytic anemias show abnormalities in hemoglobin? What's the test for this?
Sickle cell disease

Test: Hgb electrophoresis
What congenital hemolytic anemias show abnormalities in the RBC membrane? What's the test for this?
Hereditary spherocytosis
Hereditary elliptocytosis

Test: osmotic fragility test
What congenital hemolytic anemias show abnormalities in RBC enzymes? What's the test for this?
G6PD deficiency
Pyruvate kinase deficiency

Test: enzyme levels
Where are the thalassemias typically found?
Where malaria is endemic

Possibly protective
What are the different kinds of hemoglobin chains found?
Gamma Delta
What are the types of hemoglobin that are normally found in adults?
Hg A: Alpha2, Beta2 (96-98%)

Hg A2: Alpha2, Delta2 (2-3%)

Hg F: Alpha2, Gamma2 (0-1%)
How many copies of each of the Hgb genes does each person have?
Beta chain: 2 copies

Alpha chain: 4 copies
What are the different kinds of thalassmias?

What types of mutations typically cause the thalassmias?
Point mutations
What does a peripheral blood smear look like for a thalassemia?

Also, you can have hemolysis
Who typically gets beta thalassmias?
Mediterannean people

What type of a mutation happens in Beta thalassemias?
Mutation; not a deletion
What are the different subtypes of beta thalassemias?
2 phenotypes:

Thalassemia beta minor (trait): heterozygous
Thalassemia beta intermediate: homozygous mutated; not as severe
Thalassemia beta major: homozygous mutated; very severe
What are the symptoms of thalassema beta major?
Severe anemia

Multi-organ failure at a young age
What population does not show the effects of a beta thalassemia?

Switching to the beta chain causes the symptoms to come out.
What are the findings on Hg electrophoresis in beta thalassemias?
HgA is decreased
HgA2 is mildly increased
HgF is mildly increased
What are the typical numbers for Hg in a person who is normal, trait, and major?
What are the subtypes of alpha thalassemia?
Silent carrier: "-a/aa"
Thal-alpha trait: "-a/-a" OR "--/aa"
Hg H disease: "--/-a"
Hydrops fetalis: "--/--"
What are the findings in thal-alpha trait?
"-a/-a" OR "--/aa"

Mild decrease of alpha chain production
No "new" Hg
Mild anemia/low-normal Hg
Marked microcytosis (decreased MCV)
What are the findings in HgH disease?

Severereduction in alpha chain production
Hg (4 beta chains); decreased O2affinity
Mild-severe hemolytic anemia
Hg Bart's (4 gamma chains) in infants; severe disease
What are the findings in hydrops fetalis?

Absence of alpha
Intrauterine hypoxia
Hg bart's: 4 gammas
Not compatible with life
What's the pattern of hemoglobin amounts in the alpha thalassemias?
What are the typical lab findings in someone with a thalassemia?
Microcytosis +/- anemia
Hg electrophoresis findings
Positive FH
Molecular genetics confirm
What are the findings of thalassemias on peripheral blood smears?
Target cells
Heinz bodies
What's the treatment for thalassemias?
Chronic transfusions
Folic acid supplementation
BOne marrow treatment
What complications result from chronically transfusing people?
Iron overload!
-Multiorgan failure
-CHF, liver cirrhosis

Iron chelators
What are some of the iron chelators used in this disease?

They're used for the beta thalassemias
What population is most commonly affected by sickle cell syndrome?
African american population
What mutation takes place in sickle cell anemia?
V->E (valine-->glutamic acid) at 6th position of the beta globin gene
What is the effect of the sickle cell mutation?
Less soluble hemoglobin leads to precipitation of the Hgb-->sickling of the cells
What is the effect of sickling on RBCs?
Shorter lifespan
Infarction all over the body
What is the typical presentation of someone with sickle cell trait?
It's asymptomatic.
What is hemoglobin C?
Similar disease to sickle cell, except that it's an E for K (glutamic acid for lysine) substitution at position 6
What are thesymptoms of hemoglobincarriers?
What are the different sickle cell diseases?
Hg SS: homozygous S
Hg SC: heterozygous S, heterozygous C
Hg S/B. thal disease: heterozygous S+B0/homozygous B+
When do people present with sickle cell disease?
As infants, when the Hgb F declines to less than 50%
What are some types of sickle cell crises?
Pain/vaso-occlusive crisis
Visceral sequestration crisis
Aplastic anemia
Hyperhemolytic crisis
What are some other kinds of problems that sickling blood cells can cause?
Recurrent infections
Pulmonary HTN
Renal failure
What are some infections that sickle cell people are more prone to?
Parvovirus B19
Encapsulated bacteria: (strep, h. flu, meningococcus)
What are some of the vaso-occlusive crises that can happen with sickle cell disease?
When there's vasoocclusion due to the sickling of blood cells inside the vasculature; normally pain
-Skin ulceration
What is the management for sickle cell pain crises?
Pain meds
Correcting the precipitating factors: (dehydration,infection, etc.)
What is the treatment of people with sickle cell in relation to their increased number of infections?
Prophylactic penicillin until 18

What is the treatment ofr an acute chest syndrome in a person with sickle cell disease?
Blood exchange
What's the treatment for sickle cell disease?
Hydroxyurea: increases HbF; decreased HgS
Exchange transfusion (acute management)
Pain management
Blood transfusions
What are some of the reasons that people with sickle cell don't comply with meds?
The side effects are quite severe.
What is the cause of hereditary spherocytosis?
Defect in vertical interactions:
-Protein 3
-Protein 4.2

Defect in Spectrin-Protein 4.2 binding
What is the cause of hereditary elliptocytosis?
Defects in horizontal interactions:
-Protein 4.1
-Protein 3
-Glycoprotein C, D

Defects in spectrin/spectrin-ankyrin binding
Who gets hereditary elliptocytosis more commonly?
What problems happen in people with HS/HE?
The RBCs get stuck in the spleen and then get destroyed
What tests do you order up to diagnose hereditary elliptocytosis or spherocytosis?
Negative Coomb's test
Abnormal osmotic fragility test
Family history
What's the inheritance of Hereditary spherocytosis, elliptocytosis?
Autosomal dominant
What are the clinical findings of HS/HE?
Chronic hemolysis
What are the treatments for HS/HE?
If asymptomatic, don'ttreat
Folic acid supplementation
Splenectomy (delay as long as possible.)
What are some of the immunizations that people with HS/HE should get? What meds should they be on?
-H. influenza
-P. pneumoniae

Penicillin prophylaxis
What are the two most significant enzyme defects in RBCs?
Pyruvate kinase deficiency
What's the inheritance of G6PD?

Multiple mutations
What different variants of G6PD exist?
Southeast asian
What is the function of G6PD?
Maintain glutathione levels

Prevent free radical damage
What's the cause of RBC damage in people with pyruvate kinase deficiency?
Decreased ATP-->rigid red cells-->hemolysis
What's the inheritance of pyruvate kinase deficiency?
Autosomal recessive
What are the symptoms of pyruvate kinase deficiency?
Neonatal jaundice