Hemoglobin Flashcards

1
Q

Hemoglobin Synthesis

A

Chromosome 16: 4 alpha alleles, 2 zeta

Chromosome 11: 2 beta alleles, 4 gammas (G and A), 2 deltas, 2 epsilon

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2
Q

Embryonic

A

Gower 1, Gower 2, Portland

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3
Q

Fetal

A

Hgb F

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4
Q

Adult

A

Hgb A, Hgb A2

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5
Q

Hgb A

A

Alpha and beta chains

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6
Q

Hgb A2

A

Alpha and gamma chains

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7
Q

Hgd C

A

Mutation of the 6th amino acid in the beta chain

Glutamate to lysine

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8
Q

Hgb D

A

Mutation of amino acid 121 on the beta chain

Glutamate to glycine

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9
Q

Hgb E

A

Mutation of amino acid 26 in the beta chain

Glutamate to lysine

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10
Q

Hgb F

A

Fetal hgb

Alpha and gamma chains

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11
Q

Hgb H

A

Beta chains

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12
Q

Hgb S

A

Mutation in the 6th amino acid in the beta chain

Glutamate to valine

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13
Q

Gower I

A

Zeta and epsilon chains

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14
Q

Gower II

A

Alpha and epsilon chains

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15
Q

Portland Hgb

A

Zeta and gamma chains

Seen in Alpha thalassemia/Hydrops fetalis

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16
Q

Bart’s Hgb

A

Gamma chains

Seen in Alpha thalassemia/Hydrops Fetalis

17
Q

Hgb Lepore

A

Fusion of the delta and beta chain genes

Two alpha chains with two beta-delta fusion chains

18
Q

Hgb Constant Spring (CS)

A

Caused by elongated alpha chains

Only affects one or two of the four alpha genes