Hemoglobinopathies Flashcards

1
Q

Hemoglobinopathies is caused by

A

differences in the arrangement of amino acids in the polypeptide chain

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2
Q

Major Groups of Hemoglobinopathies

A

Alpha-hemoglobinopathies
Beta-hemoglobinopathies
Gamma-hemoglobinopathies
Delta-hemoglobinopathies

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3
Q

most commonly encountered hemoglobinopathy

A

Beta-hemoglobinopathies

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4
Q

B-hemoglobinopathies

A

Homozygous β-hemoglobinopathies &

Heterozygous β-hemoglobinopathies

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5
Q

both BETA genes are mutated

A

Homozygous β-hemoglobinopathies

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6
Q

one BETA gene is normal

A

Heterozygous β-hemoglobinopathies

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7
Q

HbA1 is absent in

A

Homozygous β-hemoglobinopathies

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8
Q

Hb A1 is in greater amount than abnormal hemoglobin

A

Heterozygous β-hemoglobinopathies

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9
Q

Sickle cell disease & HB C disease are what type of Hemoglobinopathy?

A

Homozygous β-hemoglobinopathies

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10
Q

Sickle cell trait and Hb C trait are what type of Hemoglobinopathy?

A

Heterozygous β-hemoglobinopathies

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11
Q

abnormal hemoglobinopathies s present in certain β-hemoglobinopathies

A

1) Hb S
2) Hb C
3) Hb E

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12
Q

Alpha2Beta2^26GLU–LYS

A

Hb E

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13
Q

Alpha2Beta2^6GLU–VAL

A

Hb S

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14
Q

Alpha2Beta2^6GLU–LYS

A

Hb C

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15
Q

most common/sever B-hemoglobinopathy

A

Hb S

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16
Q

group of hemoglobinopathies that are Increased in oxygen affinity?

A

Hb Hiroshima
Hb Rainier
Hb Bethesda

17
Q

M hemoglobins

-assoc. w/ methemoglobinemias & cyanosis

A

Hb M-Saskatoon
Hb M-Milwaukee-1
Hb M-Milwaukee-2

18
Q

aka Hyde Park

A

Hb M-Milwaukee-2

19
Q

group of hemoglobinopathies that are decreased in oxygen affinity?

A

Hb Agenogi
Hb Beth Israel
Hb Yoshizuka

20
Q

hemoglobin that crystallizes

A

Hb S

21
Q

cells that obstruct blood flow to tissues and organs

A

Sickle cells

22
Q

“holly-leaf” form of the RBCs

A

frequently found in Sickle cell trait

- (+) result in Sodium metabisulfite method

23
Q

Hb D & Hb G results in Sodum dithionite tube test

A

Negative

24
Q

Hb S result in Sodum dithionite tube test

A

Positive

25
Q

medium for Hemoglobin Electrophoresis - screening

A

Cellulose Acetate

26
Q

Considered as the
primary screening procedure to detect variant
(abnormal) hemoglobins

A

Hemoglobin Electrophoresis

Cellulose Acetate

27
Q

alkaline buffer in Hemoglobin Electrophoresis

Cellulose Acetate

A

pH 8.4-8.6

28
Q

Hemoglobin Electrophoresis

(Cellulose Acetate) is confirmatory if

A

performed together with Solubility test

29
Q

CONFIRMATORY TEST

A

Hemoglobin Electrophoresis

Citrate Agar

30
Q

Two crystals related to Hb C:

A

(1) Hb SC crystals

(2) Hb CC crystal

31
Q

Bar of Gold

A

Hb CC crystals

32
Q

washington monument

A

Hb SC crystals