HEMA LEC - Hgbopathy

Question 1

Group of inherited disorders causing structurally abnormal globin chain synthesis due to AA substitutions

Answer 1

HEMOGLOBINOPATHIES

Question 2

HEMOGLOBINOPATHIES are hetero or homozygous disease?

Answer 2

• Homozygous disease conditions (both globin chains affected)

Question 3

what cells are associated with Hgbopathy

Answer 3

Target cells and sickle cells

Question 4

HEMOGLOBINOPATHY DIAGNOSIS [3]

Answer 4

• Hgb electrophoresis
• Isoelectric focusing
• DNA (PCR) Analysis

Question 5

When valine replaces glutamic acid at position 6 on both beta chains

Answer 5

Hgb SS

Question 6

Hgb SS Inherited from one or both parents?

Answer 6

• Inherited from both parents

Question 7

percentage of HbA produced if w/ Hgb SS

Answer 7

0%

Question 8

percentage of HbS produced if w/ Hgb SS

Answer 8

80%

Question 9

percentage of HbF produced if w/ Hgb SS

Answer 9

20%

Question 10

Hb insolubility results when _______ is formed

Answer 10

deoxyhemoglobin

Question 11

Hgb ___ Clinical Findings

• Tissue necrosis

Answer 11

Hgb SS

Question 12

Hgb ___ Clinical Findings

All organs are affected; with kidney failure being a common outcome; hyposplenism and joint swelling also occur

Answer 12

Hgb SS

Question 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

Answer 13

Hgb SS

Question 14

(time of beta-gamma globin chain switch)

Answer 14

6 months of age

Question 15

Hgb ___ Clinical Findings

Death usually results from infection or congestive heart failure.

Answer 15

Hgb SS

Question 16

Inclusion bodies found in Hb SS [2]

Answer 16

Pappenheimer bodies

H-J Bodies

Question 17

Hgb S migrates with Hemoglobins ? and ? on alkaline hemoglobin electrophoresis; can differentiate using acid electrophoresis

Answer 17

D & G

Question 18

Hgb SS Laboratory Findings Blood picture

bone marrow erythroid hyperplasia (M:E ratio decreases)

Answer 18

Severe normocytic/normochromic hemolytic anemia with polychromasia resulting from premature release of reticulocytes

Question 19

Hgb SS Laboratory Findings

M:E Ratio effect

Answer 19

bone marrow erythroid hyperplasia (M:E ratio decreases)

Question 20

cells present in Hgb SS [3]

Answer 20

Sickle cells, target cells, nucRBCs,

Question 21

Hb __ lab findings

Increased bilirubin and decreased haptoglobin due to hemolysis

Answer 21

Hb SS

Question 22

When valine replaces glutamic acid at position 6 on ONE beta chains

Answer 22

Hgb AS

Question 23

one normal beta chain can produce some Hgb A

Answer 23

Hgb AS

Question 24

Percentage of Hgb A in Hgb AS

Answer 24

60%

Question 25

Percentage of Hgb S in Hgb AS

Answer 25

40%

Question 26

generally produces no clinical symptoms. anemia is rare, but if present, will be normo/normo and sickling can occur during rare crisis states

Answer 26

Hgb AS

Question 27

when lysine replaces glutamic acid at position 6 on both beta chains

Answer 27

Hgb CC

Question 28

Percentage of Hgb A in Hgb CC

Answer 28

0%

Question 29

Percentage of Hgb A2 in Hgb CC

Answer 29

2

Question 30

Percentage of Hgb F in Hgb CC

Answer 30

7

Question 31

Percentage of Hgb Cin Hgb CC

Answer 31

90%

Question 32

Normo/normo anemia with target cells, intracellular rodlike crystals

Answer 32

Hgb CC

Question 33

Hb C migrates with Hgb

Answer 33

A2, E, O

Question 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

Answer 34

HETEROZYGOUS

Question 35

double heterozygous condition where an abnormal sickle gene from one parent and an abnormal C gene from the other parent is inherited

Answer 35

Hgb SC

Question 36

percentage of Hb A in Hgb SC

Answer 36

0%

Question 37

percentage of Hb S in Hgb SC

Answer 37

50%

Question 38

percentage of Hb C in Hgb SC

Answer 38

50%

Question 39

percentage of Hb F in Hgb SC

Answer 39

7%

Question 40

moderate to severe normo/normo with target cells, characterized by SC crystals, may see rare sickle cells or C crystals

Answer 40

Hgb SC

Question 41

when lysine replaces glutamic acid at position 26 on the beta chain

Answer 41

Hgb E

Question 42

homozygous condition results in mild anemia with microcytes and target cells; heterozygotes are asymptomatic

Answer 42

Hgb E

Question 43

when glycine replaces glutamic acid at position 121 on the beta chain

Answer 43

Hgb D

Question 44

abnormal Hgb variants | HbM: alpha 2 (58th His to Tyr), beta 2

Answer 44

Hgb M

Question 45

tetramer of gamma

Answer 45

Hb Bart

Question 46

abnormal variant of Hb F

Answer 46

Hb Bart

Question 47

Decrease Hb insolubility

Answer 47

Hgb SS

Question 48

Immunity to falciparum (2)

Answer 48

Hgb SS | Hgb AS

Question 49

+ Hgb Solubility Screening Test | 3

Answer 49

Hgb SS Hgb AS Hgb SC

Question 50

No Hgb A produced (2)

Answer 50

Hgb SS | Hgb CC

Question 51

Asymptomatic

Answer 51

AS Heterozygous Hb C Heterozygous Hb E

Question 52

2. Occurs most commonly in African-American, African, Mediterranean, and Middle East populations.

Answer 52

Sickle Cells Disease (Hgb SS)

Question 53

is the most common hemoglobinopathy in the United States.

Answer 53

heterozygous trait

Question 54

2. Occurs in the African-American And African populations.

Answer 54

Hgb C Disease / Hgb CC

Question 55

African, Mediterranean, and Middle Eastern populations

Answer 55

Hgb SC Disease