2.When a girl inherits a mutated gene from either her father or mother, she becomes a carrier of hemophilia and can pass the disease to her sons.c.A and P Reviewi.Blood Clots1.When an injury causes a blood vessel wall to break, platelets are activated. They change shape from round to spiny, stick to the broken vessel wall and each other, and begin to plug the break. They also interact with other blood proteins to form fibrin. Fibrin strands form a netthat entraps more platelets and blood cells, producing a clot that plugs the breakd.Pathophysiologyi.Factor VIII deficiency 1.Necessary for thromboplastin formation in phase one of coagulationii.Effect is prolonged bleeding1.SQ and IM hemorrhages2.Hemarthrosis bleeding a.Into the joints3.Anemias 4.GI bleeding 5.Intracranial hemorrhagee.Diagnosis of Bleeding Disordersi.Medical and familial history?f.Diagnosisi.Circumcisionii.Toddler yearsiii.History of bleedingiv.Blood test PT/PTT bleeding timev.Fibrinogen levelvi.Platelet count vii.Factor VIII and IX assaysviii.DNA testing for carrier statusg.Classification of Hemophiliai.Classified as:1.Mild2.Moderate3.Severe
54ii.Average clotting activity level 100%1.Normal range 60-100%iii.Every patient should know their clotting factor activity leveliv.Degree of severity tends to be consistent within a given familyv.The severity of hemophilia depends on the specific mutation in the Factor gene. If the mutation is small, like a one letter change in the gene, then the mutation is small. If the mutation is larger, like a backward chunk, the symptoms are usually severe.ClassesSevereModerateMild Factor Level<1%1-3% factor6-25% factorTendency to bleedCan bleed without injuryCan bleed with slight injuryBleeds with severe injury, surgery, invasiveprocedures Joints Usually had join involvementMay have joint involvement Rarely has joint involvement X/wkMay bleed 1-2 x/weekMay bleed 1 x/monthMay never have a bleeding problem h.Complicationsi.Hematomasii.Bleeding from circumcisioniii.Minor trauma—large intramuscular hematomaiv.Hemarthosis-hallmark signv.Intracranial hemorrhagesvi.Bleeding in neck areavii.Spontaneous hematuriaviii.Hematomas along spinal cordix.AIDSx.Hepatitisi.Bleeding into Jointsi.What should you do immediately in the patient with hemophilia? Why?j.Development of Arthritis
55i.k.Emergency Treatmenti.Never make a hemophilia patient wait to be treated. 1.The longer he/she waits, the longer he/she will continue to bleed. 2.Early treatment can prevent complications, pain and death.ii.Bleeding can cause1.Irreversible complications2.Pain3.Deathiii.Listen to the patient and /or his family1.Their information can be valuableiv.Important1.Never give IM injections except with pretreatment2.Never apply heat to a bleeding area3.Never perform invasive procedures without pretreatment of clotting factor4.Avoid arterial puncturesv.Therapeutic Management1.Apply pressure for 10-15 minutes2.Immobilize3.Elevate4.Apply cold5.Factor administrationa.