HEMA LEC - Hgbopathy Flashcards Preview

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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

African, Mediterranean, and Middle Eastern populations

Hgb SC Disease

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