Flashcards in HEMA LEC - Hgbopathy Deck (55)
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1
Group of inherited disorders causing structurally abnormal globin chain synthesis due to AA substitutions
HEMOGLOBINOPATHIES
2
HEMOGLOBINOPATHIES are hetero or homozygous disease?
• Homozygous disease conditions (both globin chains affected)
3
what cells are associated with Hgbopathy
Target cells and sickle cells
4
HEMOGLOBINOPATHY DIAGNOSIS [3]
• Hgb electrophoresis
• Isoelectric focusing
• DNA (PCR) Analysis
5
When valine replaces glutamic acid at position 6 on both beta chains
Hgb SS
6
Hgb SS Inherited from one or both parents?
• Inherited from both parents
7
percentage of HbA produced if w/ Hgb SS
0%
8
percentage of HbS produced if w/ Hgb SS
80%
9
percentage of HbF produced if w/ Hgb SS
20%
10
Hb insolubility results when _______ is formed
deoxyhemoglobin
11
Hgb ___ Clinical Findings
• Tissue necrosis
Hgb SS
12
Hgb ___ Clinical Findings
All organs are affected; with kidney failure being a common outcome; hyposplenism and joint swelling also occur
Hgb SS
13
Hgb ___ Clinical Findings
Diagnosis is made after 6 months of age (time of beta-gamma globin chain switch), with life expectancy of 50 years with proper treatment
Hgb SS
14
(time of beta-gamma globin chain switch)
6 months of age
15
Hgb ___ Clinical Findings
Death usually results from infection or congestive heart failure.
Hgb SS
16
Inclusion bodies found in Hb SS [2]
Pappenheimer bodies
H-J Bodies
17
Hgb S migrates with Hemoglobins ? and ? on alkaline hemoglobin electrophoresis; can differentiate using acid electrophoresis
D & G
18
Hgb SS Laboratory Findings Blood picture
bone marrow erythroid hyperplasia (M:E ratio decreases)
Severe normocytic/normochromic hemolytic anemia with polychromasia resulting from premature release of reticulocytes
19
Hgb SS Laboratory Findings
M:E Ratio effect
bone marrow erythroid hyperplasia (M:E ratio decreases)
20
cells present in Hgb SS [3]
Sickle cells, target cells, nucRBCs,
21
Hb __ lab findings
Increased bilirubin and decreased haptoglobin due to hemolysis
Hb SS
22
When valine replaces glutamic acid at position 6 on ONE beta chains
Hgb AS
23
one normal beta chain can produce some Hgb A
Hgb AS
24
Percentage of Hgb A in Hgb AS
60%
25
Percentage of Hgb S in Hgb AS
40%
26
generally produces no clinical symptoms. anemia is rare, but if present, will be normo/normo and sickling can occur during rare crisis states
Hgb AS
27
when lysine replaces glutamic acid at position 6 on both beta chains
Hgb CC
28
Percentage of Hgb A in Hgb CC
0%
29
Percentage of Hgb A2 in Hgb CC
2
30
