Flashcards in HEMA LEC - Hgbopathy Deck (55):
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
Percentage of Hgb F in Hgb CC
7
31
Percentage of Hgb Cin Hgb CC
90%
32
Normo/normo anemia with target cells, intracellular rodlike crystals
Hgb CC
33
Hb C migrates with Hgb
A2, E, O
34
The ___ Hgb C trait patient is asymptomatic, with no anemia, one normal beta chain is able to produce 60% Hb A, 40% Hb C, normal amounts of A2 and F
HETEROZYGOUS
35
double heterozygous condition where an abnormal sickle gene from one parent and an abnormal C gene from the other parent is inherited
Hgb SC
36
percentage of Hb A in Hgb SC
0%
37
percentage of Hb S in Hgb SC
50%
38
percentage of Hb C in Hgb SC
50%
39
percentage of Hb F in Hgb SC
7%
40
moderate to severe normo/normo with target cells, characterized by SC crystals, may see rare sickle cells or C crystals
Hgb SC
41
when lysine replaces glutamic acid at position 26 on the beta chain
Hgb E
42
homozygous condition results in mild anemia with microcytes and target cells; heterozygotes are asymptomatic
Hgb E
43
when glycine replaces glutamic acid at position 121 on the beta chain
Hgb D
44
abnormal Hgb variants
HbM: alpha 2 (58th His to Tyr), beta 2
Hgb M
45
tetramer of gamma
Hb Bart
46
abnormal variant of Hb F
Hb Bart
47
Decrease Hb insolubility
Hgb SS
48
Immunity to falciparum (2)
Hgb SS
Hgb AS
49
+ Hgb Solubility Screening Test
(3)
Hgb SS
Hgb AS
Hgb SC
50
No Hgb A produced (2)
Hgb SS
Hgb CC
51
Asymptomatic
AS
Heterozygous Hb C
Heterozygous Hb E
52
2. Occurs most commonly in African-American, African, Mediterranean, and Middle East populations.
Sickle Cells Disease (Hgb SS)
53
is the most common hemoglobinopathy in the United States.
heterozygous trait
54
2. Occurs in the African-American And African populations.
Hgb C Disease / Hgb CC
55