Ch. 14 Distinguishing Features Flashcards
What mutations may be seen in Hereditary Spherocytosis
Ankyrin
Band 3, 4.2
Spectrin
What mutation is seen in Sickle Cell Disease
Point mutation in 6th codon of ß-globin
Glu replaced by Val
The a-globin chains of Hgb is coded for on what chrom
Chrom 16
The ß–globin chains of Hgb is coded for on what chrom
Chrom 11
What category of mutations cause ß-Thalassemias
Point mutations
What category of mutations causes a-Thalassemias
Gene deletions
What genotypes may be found in ß-Thalassemia major
ß+/ß+
ß+/ßo
ßo/ßo
What genotypes may be found in ß-Thalassemia minor/trait
ß+/ß
ßo/ß
What is the difference between the two version of a-Thalassemia trait
-/- or a/a –> Asia, Sx’s
a/- or -/a –> Africa, aSx
How many genes are deleted in HbH a-Thalassemia
3 genes
What mutation is Paroxysmal Nocturnal hemoglobinuria associated with
Phosphatidylinositol Glycan complementation Group A (PIGA)
What markers are PNH blood cells deficient in and which is most important
CD55
CD59 –> most important
C8
Which Ig is associated with Warm Ab-Type Immunohemolytic Anemia
IgG
Which Ig is associated with Cold Agglutinin Type Immunohemolytic Anemia
IgM
Which Ig is associated with Cold Hemolysin Type Immunohemolytic Anemia a
IgG
Inflammasome mutations are associated with which type of anemia
Pernicious (Vitamin B12 deficiency) anemia
What mutation is associated with Fe Deficiency Anemia
TMPRSS6
Which IL stimulates hepatic production of hepcidin
IL-6
Activation of which type of cells is responsible for Aplastic Anemia
Th1
2˚ Polycythemia may be d/t what 3 causes
Hypoxia
EPO-secreting tumor
HIF-1a mutation - stimulates EPO transcription
Prothrombin Time (PT) measures which pathways of coagulation
Extrinsic and common
Partial Thromboplastin Time (PTT) measures which pathways of coagulation
Intrinsic and common
What Ig Abs are associated with Chronic Immune Thrombocytopenic Purpura (ITP)
IgG against GPIIb-IIIa or Ib-Ix
What are the PT and PTT in Chronic Immune Thrombocytopenic Purpura (ITP)
Normal
What mutation is associated with Thrombotic Thrombocytopenic Purpura (TPP)
ADAMTS13 (vWF Metalloprotease)
What is Typical HUS associated with
E. Coli 0157;H7
What is Atypical HUS associated with
Complement defects
What syndrome is associated with platelet dysfunction from defective adhesion
Bernard-Soulier
What is associated with platelet dysfunction from defective aggregation
Glanzmann Thrombasthenia (AR)
What is the PTT for the different types of vWF disease
Type 1 and 3 –> prolonged
Type 2 vWF disease is d/t…
defective multimer assembly
What is the PTT for Hemophilia A and B
Prolonged PTT
Which Ig Abs are triggered in Allergic Reactions during transfusions
IgG
Which Ig Abs are triggered in Hemolytic Reactions during transfusions
IgM
Which Ig Abs are triggered in Delayed Hemolytic Reactions during transfusions
IgG
In Transfusion-Related Acute Lung Injury, Abs bind to…
MHC type 1
