thalassemia to be continued
TRANSCRIPT
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ThalassemiaThalassemia
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it is a genetic disorder of it is a genetic disorder of hemoglobin synthesis in which there hemoglobin synthesis in which there is defective synthesis of alpha or is defective synthesis of alpha or beta chains.beta chains.
Thalassemia is an Thalassemia is an inherited inherited autosomal recessive blood disorder.autosomal recessive blood disorder.
which results in excessive which results in excessive destruction of red blood cells and destruction of red blood cells and further leads to anemia.further leads to anemia.
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Clinical Presentations*Thalassemia minor- characterized by mild
anemia*Symptoms of beta thalassemia major appear in the
first two years of life. Fatigue and weakness Pale skin or jaundice (yellowing of the skin) Protruding abdomen with enlarged spleen and
liver
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Dark urine Abnormal facial bones and poor
growth A poor appetite. Adolescents with the severe form of
beta thalassemia may experience delayed puberty.
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Hemolytic anemia:Anemia.Jaundice.Hepatosplenomegally due to
extramedullary hemopoiesis.Rodent facies (prominent
malar eminences & malalignement of the teeth) due to facial bone deformity 2ry to bone marrow hyperplasia.
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Management :Mild thalassemia : patients with
thalassemia traits do not require medical or follow-up care after the initial diagnosis is made.
Patients with β-thalassemia trait should be warned that their condition can be misdiagnosed for the common Iron deficiency anemia. They should eschew empirical use of Iron therapy; yet iron deficiency can develop during pregnancy or from chronic bleeding.
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Counseling is indicated in all persons with genetic disorders, especially when the family is at risk of a severe form of disease that may be prevented.
Severe thalassemia : Patients with severe thalassemia require medical treatment. A blood transfusion regimen was the first measure effective in prolonging life.
Medications as Deferoxamine , Deferiprone , Deferasirox
Bone marrow transplantation
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