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What is the inheritance and some clinical features of acute intermittent porphyria?
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AD; onset after puberty, acute attacks, abdominal pain, muscle weakness, neuropathy, hysteria, anxiety, hepatocellular carcinoma, no cutaneous findngs
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What are the genes responsible for alpha thalassemia?
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HBA1 and HBA2
Hemoglobin subunit alpha
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What are clinical features of HbH disease?
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Loss or dysfunction of 3 of 4 alpha thal genes, microcytic hypochromic hemolytic anemia, hepatosplenomegaly, jaundice
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What gene is responsible for beta thalassemia?
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HBB Hemoglobin subunit beta
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What are the clinical features of beta thalassemia?
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Severe anemia, hepatosplenomegaly. Without treatment severe FTT and shortened life. Thal intermedia: present later, milder anemia that only rarely requires transfusion, at risk for iron overload
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What are the clinical features for heterozygous Factor V Leiden?
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Modest increased risk for venous thromboembolism recurrence
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What are the clinical features for homozygous Factor V Leiden?
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Inceased risk for VTE, most commonly DVT
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