gallbladder O Bone marrow transplants the only current cure oGene therapy

Gallbladder o bone marrow transplants the only

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gallbladderO Bone marrow transplants - the only current cureoGene therapyComplications Iron toxicity:Hemochromatosis= iron overload due to repeated blood transfusions,
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Intro Blood 10*-+-saturation of IBPs & hemosiderin in the liver tissue (can be treated by periodic blood removal or drugs enhancing excretion)Avoid iron supplements2. Sickle cell disease -An inherited, autosomal recessive disorder caused by mutation in the b globin gene leading to abnormal hemoglobin - HbS-HbS formed by the replacement of an Glu with Val, in the b- chain, secondary to a mutation of a base on the DNA (flipping of A &T)-Causes profound changes in hemoglobin stability and solubility -Under decreased oxygen tension, hemoglobin S undergoes polymerization causing the red blood cell to assume a sickle shape -Most common and most severe form of the hemolytic anemias -Very frequent among Blacks from the sub-Sahara Africa (9-10% are gene carriers) -Individuals with sickle cell anemia have a protective effect against malaria Severe AnemiaSickled RBC are mechanically weak, have decreased survival time & are prone to intravascularhemolysis (jaundice)Chronic hyperbilirubinemiaVessel occlusion-sickle shape increases likelihood of thrombosis venous thrombosis; arterial embolicardiac & renal failurefrequent, often serious, even lethal infectionsretinopathies (due to microthrombosis)pregnancy accidents-higher rates of miscarriages Pulmonary & cardiovascular complicationschamber enlargementrelated to significantly increased forward output due to chronic anemiamyocardial infarctionfrom vasoocclusion of the coronary arteriesRV dysfunction may lead to pulmonary hypertensionSplenomegaly, hepatomegaly, hypogonadismChildren :impaired growth in children: bony abnormalities Treatment The disease has no widely available cure. Treatment strategies are based on preventing crisis and symptom management
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Intro Blood 11*-+O Management of chronic pain syndromes; vaso-occlusive syndrome & chronic anemiaO Vaso-occlusive crisis: rehydration therapy to reverse the dehydration & hypoxiaO Transfusions: replacement of sickle cells with those of normal RBCsO Acutely painful episodes are managed with morphine.O Chronic pain is also managed using NSAIDsO Treatment of complicationsManagement of complications of organ damage; prevention of stroke; detection and treatment of pulmonary hypertensionO Prevention of sickling crisisPrevention and treatment of infections, avoid cold, dehydration etcInfections are managed using antibiotic prophylaxis and early immunization for Pneumococcus and Meningococcus infections-Newer options -Bone marrow stem cell transplantations (85% diseases free rate) -Inhalation of nitrous oxide (dilates blood vessels)-Hydroxyurea:an antineoplastic drug increases production of fetal hemoglobin( which does not sikel) 3. Hereditary Spherocytosis the most common cause of inherited anemia in individuals of Northern European ancestry (1:2000)
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