describe the specific physiological, anatomical and Details genetic LOCI etiolog
ID: 3516818 • Letter: D
Question
describe the specific physiological, anatomical and Details genetic LOCI etiology of BOTH sickle cell anemia AND ALL TYPES OF thalassemia (Alfa and beta). Also, detail the exact clinical manifestations and potential treatment options for these medical pathologies. describe the specific physiological, anatomical and Details genetic LOCI etiology of BOTH sickle cell anemia AND ALL TYPES OF thalassemia (Alfa and beta). Also, detail the exact clinical manifestations and potential treatment options for these medical pathologies. describe the specific physiological, anatomical and Details genetic LOCI etiology of BOTH sickle cell anemia AND ALL TYPES OF thalassemia (Alfa and beta). Also, detail the exact clinical manifestations and potential treatment options for these medical pathologies.Explanation / Answer
SICKLE CELL DISEASE
Etiology : It is cause due to point mutation " defect " in the 6th codon of beta-globin chain of hemoglobin that changes Glutamic acid ( amino acid ) to Valine amino acid . ---- ( genetic changes ) that cahnges normal hemoglobin into sickle-cell hemoglobin .
Pathogenesis : sickle cell hemoglobin polymerizes when deoxygenated . the polymers accumulate into needle shaped structures and make RBCs sickle shaped . ( Anatomical changes in RBCs ) . Sickling increases by hypoxemia , dehydration and acidosis . These sickle shaped RBCs are less effiecient in carrying oxygen to the tissues ( Physiological changes )
clinical manifestations :
a) Hemolytic anemia ( due to extravascular hemolysis of abnormal RBCs into spleen )
b) Jaundice with unconjugated hyperbilirubinemia
c) hemoglobinemia , hemoglobinuria and hemosiderinuria .
d) massive erythroid hyperplasia causes CREW CUT appearance of skull bone and CHIPMUNK FACE .
e) Vaso-occlusion
treatment : HYDROXYUREA increases level of HbF ( fetal hemoglobin ) and protects against sickling .
THALASSEMIA
Cause : it is "decreased synthesis" of globin chains which results in reduced hemoglobin causing microcytic anemia.
Types : Alpha thalassemia and Beta thalassemia
Alpha thalassemia is due to "gene depletion" of alpha chain of hemoglobin . Severity depends upon no of alpha gene deleted .
cause of alpha thalassemia -a) 1 gene deleted - asymptomatic b) 2 gene deleted - mild anemia c) 3 genes deleted - severe anemia , Beta chain tetramers are formed i.e. HbH 4) 4 genes deleted - Hydrops fetalis ( lethal in utero ) , Gamma chain tetramers formed i.e. Hb barts .
Beta thalassemia is due to " mutation " of beta chain of hemoglobin . Mutation results in absent or diminished production of beta globin chain .
types of beta thalassemia - a) B/B+ or beta thalassemia minor - asymptomatic , microcytic hypochromic RBCs and TARGET cells b) B0/B0 or beta thalassemia major - severe anemia few months after birth , microcytic hypochromic anemia , TARGET and nucleated cells
clinical mansifestation :
Microcyctic hypochromic anemia
poor erythropoesis
massive erythroid hyperplasia , extramedullary hematopoesis
treatment
a) chronic blood transfusion
b) splenectomy for swollen spleen
c) iron chelation to prevent secondary hemochromatosis .
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