thalassemia autosomal recessive disease
TRANSCRIPT
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ThalassemiaPrepared by :Christian RavinaM.sc.NursingChild Health Nursing department 2nd year, 4th semM.T.I.N.Changa
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Introduction
• Thalassemia is a hereditary hemolytic disorder occurring predominanentlyin persons of mediterraneanor asian origin.
• Thalassemia = thalassa -great sea
• The disease first described by Cooley in 1925.
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Introduction
• It was first noticed in patients originating from the littoral (દરિયાઈ)countries of Mediterranean sea.
• The prevalence of the disease in India high among Gujaratis, Sindhis , Punjabis
• Thalassemia major is known as Cooley’s anemia or mediterranean anemia .
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Definition
• Thalassemia is a group of hereditary anemia characterized by reduction in the synthesis of hemoglobin.
• It produce hypochromic microcytic anemia due to defective hemoglobinization of RBCS, Hemolysis & ineffective erythropoiesis .
• It can be considered as hemolytic & hypoproliferativeanemia related to abnormal hb.
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Causes
• Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in your red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.
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• Alpha chain synthesis is reduced due to gene deletion which reduces the level of all 3 normal hemoglobin A, A2,F & causing alpha – Thalassemia .
• Beta Thalassemia is usually caused by point mutations rather than large deletions.
• Delta –beta Thalassemia is due to suppression of both beta & delta chain synthesis with moderate anemia & high hbF.
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Classification
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Signs and Symptoms
• Major : manifested at age 3 months with progressive pallor, jaundice, hepatosplenomegaly , recurrent respiratory infection , enlargement of lymph nodes & growth failure .
• Severe cases facial appearance become mongoloid & bossing of skull , prominent frontal & parietal eminences with flat vault & straight forehead .
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Signs and symptoms • Maxilla becomes prominent with exposure of
malformed teeth . Bridge of nose become depressed with puffy eyes .
• Anorexia
• poor feeding
• Abdominal Distension
• Irregular fever
• Infection
• Increase pigmentation of skin found bronze discolouration
• Hypogonadism,
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Diagnostic evaluation
• Laboratory diagnosis:
• Thalassemia minor:
-Blood smear shows hypochromia and microcytosis (similar to Iron Deficiency Anemia).
-Blood indices: MCV< 75 fl, Hb usually> 10, Hematocrit> 30%, RDW < 14%.
-Hemoglobin A2 often elevated > 3%, sometimes reaching 7-8%.
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• Thalassemia major:
-Blood smear shows profound microcytic anemia, with extreme hypochromia, tear drop, target cells and nucleated RBCs.
-Hemoglobin may be very low at 3-4 g/dl.
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Prenatal diagnosis
• Early prenatal diagnosis can be done using first fetal blood sampling, and later chorionvillus biopsy and direct analysis of the globin genes.
• The error rate in experienced centers is now well under 1%.
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Management and treatment
• Repeated blood transfusion
• Iron chelation
• Splenectomy
• Folic acid supplementions
• Bone marrow transplantation
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Management and treatment
•Thalassemia minor (trait) :•No need for any treatment, since the
carriers are usually symptomless.
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Management and treatment
• Thalassemia major:
• The severe life-threatening anemia, requires regular life long blood transfusion, to compensate for damaged red blood cells.
• The continuous blood transfusion will eventually lead to iron overload, which must be treated with chelation therapy to avoid organ failure.
• Other novel treatments like bone-marrow transplantation are very costly.
• New treatments includes the use of oral chelators, to replace the chelation treatment using Desferal delivered by infusion under the skin through a battery-operated pump.
• Gene therapy is also an option still researched
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Repeated blood transfusion • Regular interval to maintain Hb level
at least 10-11 gm/dl.
• Interval and amount depends upon the child.
• Usually 10-15 ml/kg every 2-3 weeks washed packed RBCs are transfused.
• Special precautions to prevent complication.
• If donated RBCs are pretreated with sodium chloride, adenine, glucose and mannitol they survive longer period in receipients body.
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Iron chelation therapy
• Chelation therapy is the administration of chelating agents to remove iron from the body.
• Desferrioxamine(Desferal ): To prevent complication of repeated blood transfusion i.e. hemosiderosis & hemochromatosis .
• SQ infusion dose 25 to 50 mg/kg /day over 8 to 12 hours through micro-infusion pumps.
• Usually this therapy is given at night & 5 to 6 nights per week.
• It is given after 10-15th transfusion .
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• Serum ferritin level is maintained between1000-2000ng/ml
• Vitamin ‘C’ 100 mg/day is given concurrently to enhance iron excretion.
• Overdose of iron chelating agent may result in growth retardation, visual problem & hearing toxicity.
• Oral iron chelating agent (Desfereprone) Dose 75 to 100 mg/kg/day in 2-3 divided in dose, Side effect : joint pain, vomiting , pain in abdomen .
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Splenectomy
•Spenectomy is indicated when child need very frequent blood transfusion and child develop hypersplenismor big spleen causing discomfort.
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Folic acid supplementations
•Folic acid supplementations are recommended whereas iron therapy and dietary iron should be avoided to prevent more iron deposition.
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Supportive management
• To manage associated problems and treat complications
• Vaccination with hepatitis “B” to be given to prevent transfusion related infection along with other routine immunization.
• Emotional support
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Bone marrow transplantation
• Bone marrow transplantation is a effective treatment modality with potential of curing thalassemia.
• Defective stem cell are replaced by normal stem cell.
• It is extremely expensive and possible in only very selective cases.
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New approaches
• New approaches in the management of thalassemia are gene therapy and gene manipulation.
• In gene therapy, insertion of normal gene is done in the stem cells to correct underlying defect.
• It is done in two approaches, i.e. somatic and transgenic.
• In gene manipulation, excess of alpha chains is decreased by increasing the gamma chains.
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Prevention efforts
• Pre marital screening to make sure that the couple are not both carriers.
• Provision of counseling and health education for the thalassemics, their families and the public .
• Provision of prenatal testing for thalassemia.
• Reduction of marriages between relatives( consanguineous).
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Nursing management
• Promote compliance with transfusions and chelation therapy
• Assist the child and family to cope with anxiety producing illness and its treatments
• Observe for complication of multiple transfusion
• Prevent and treat infections
• Promote normal or near normal growth and development
• Encourage activities of daily living according to tolerance
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