Hemoglobinopathies

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10 Terms

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SCD

Caused when Valine replaces glutamic acid at position 6 on two beta chain

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SC trait

Caused when Valine replaces glutamic acid at position 6 on one beta chain.

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Hb C disease

Caused when Lysine replaces glutamic acid at position 6 on both beta chains

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Hb C trait

Caused when Lysine replaces glutamic acid at position 6 on one beta chains.

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Hb SC

Hgb SC disease is a double heterozygous condition where an abnormal sickle gene from one parent and an abnormal C gene from the other parent are inherited

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Hb E

Caused when lysine replaces glutamic acid at position 26 on the beta chains

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Hb D Punjab

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

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Hb O-Arab

Caused when lysine replaces glutamic acid at position 121 on the beta chain

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Hb G disease

Caused when lysine replaces asparagine at position 68 on alpha chain

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Hb S-KorleBu

Caused when aspartic acid replaces asparagine at position 73 on beta chain