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genetic abnormalities - Coggle Diagram
genetic abnormalities
Haemophilia
Causes
Hemophilia A, the most common type, is caused by insufficient clotting factor VIII.
Hemophilia B, the second most common type, is caused by insufficient clotting factor IX.
Hemophilia C, in which signs and symptoms are often mild, is caused by insufficient clotting factor XI.
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Clinical manifestations
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Delayed bleeding, sometimes hours after injury.
Internal bleeding or bleeding in the cavity-joints. peritoneal cavity, skull.
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Severe hemophilia include easy bruising, oral bleeds, hemarthrosis and intramuscular hematomas.
Pathophysiology
Factor VIII, the deficit of which causes hemophilia A, provides essential enhancement of thrombin generation and promulgation of fibrin formation to inhibit further bleeding.
Factor VIII combines with von Willebrand factor to protect it from protein breakdown. Bleeding in hemophilia is due to faulty fibrin stability secondary to inadequate fibrin production, resulting in failure of secondary hemostasis. Insufficient thrombin in the coagulation cascade leads to fibrin deficiency.
Signs and symptoms
Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work
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Pain, swelling or tightness in your joints
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In infants, unexplained irritability
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Nursing care plan
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Assess for skin color, discoloration,
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Definition
Hemophilia is a rare disorder in which your blood doesn't clot normally because it lacks sufficient blood-clotting proteins
Sickle cell anemia
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Pathophysiology
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Sickle hemoglobin, the result of this mutation, has the unique property of deoxidizing polymerization
The exact way in which normal tissue perfusion is disrupted by abnormal sickle cell anemia is complex and poorly understood
Medication
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Daily hydroxyurea, lowers the number of times you have pain crises
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Definition
condition in which there aren't enough healthy red blood cells to carry adequate oxygen throughout your body.