Term
| pyruvate kinnase deficiency |
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Definition
| leads to hemolytic anemia because ATP is decreased 50%. Causes 2,3-BPG elevation 2-3 fold |
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Term
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Definition
| deficiency in cytochrome b5 reductase or inherited hemoglobin M. Appear cyanotic, ingestion of oxidants. Use ascorbic acid or methylene blue. |
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Term
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Definition
| most common enzyme deficiency. Resistant to malaria. Anemia with primaquine. X-linked. |
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Term
| Pyridoxine (B6) deficiencies |
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Definition
| microcytic hypochromic anemia due to low heme production |
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Term
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Definition
| delta-ALA dehydratase (zinc) and ferrochelatase are inactivated. delta-ALA and protoporthyrin IX accumulate causing anemia and fatigue |
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Term
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Definition
| deficiencies in heme biosynthesis. neuropsyciatric symptoms. Photosensitivity |
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Term
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Definition
| induce P450 enzymes. Free heme levels fall and delta-ALA synthase is induced |
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Term
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Definition
| interleukin 2 receptor. Unable to activate JAK3. |
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Term
| Mutant erythropoietin receptor |
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Definition
| Erythrocytemia, EPO receptor cannot be deactivated by SHP-1. Sustained JAK2 and STAT5 activation |
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Term
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Definition
| bone marrow failure related to JAK/STAT |
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