49. Hemolytic Anemia by intra erythrocyte defects Flashcards
(15 cards)
What is hemolytic anemia by intra-erythrocyte defects?
Hemolytic anemia due to intra-erythrocyte defects results from abnormalities or defects within the red blood cells, leading to destruction of these cells.
What are intra-erythrocyte defects?
Intra-erythrocyte defects involve genetic and acquired conditions affecting red blood cells, leading to increased fragility, altered membrane, enzyme deficiencies, or abnormal hemoglobin.
What are examples of intra-erythrocyte defects?
Examples include hereditary spherocytosis, hereditary elliptocytosis, and enzymopathies like glucose-6-phosphate dehydrogenase (G6PD) deficiency or pyruvate kinase deficiency.
How are intra-erythrocyte defects classified?
Classification includes membrane disorders, enzyme deficiencies, and hemoglobinopathies.
What characterizes hereditary spherocytosis?
Hereditary spherocytosis is characterized by mutations in genes encoding proteins involved in maintaining the shape and stability of the RBC membrane, leading to spherical-shaped RBCs that are more prone to destruction by the spleen.
What characterizes hereditary elliptocytosis?
Hereditary elliptocytosis involves mutations affecting proteins responsible for the elasticity of the RBC membrane, resulting in elongated or oval-shaped RBCs.
What are the effects of enzymopathies like G6PD deficiency?
Enzymopathies like G6PD deficiency or pyruvate kinase deficiency disrupt crucial metabolic pathways within RBCs, impairing their ability to withstand oxidative stress or produce ATP, respectively.
What can cause acquired intra-erythrocyte defects?
Certain drugs (penicillin), toxins (lead, copper), or infections (clostridium perfringens, malaria) may directly damage RBCs, leading to their premature destruction.
What is autoimmune hemolytic anemia?
Autoimmune disorders produce autoantibodies targeting RBCs, causing autoimmune hemolytic anemia, classified as warm or cold.
What are common symptoms of hemolytic anemia?
Symptoms include pale skin, fatigue, exertional dyspnea, jaundice, splenomegaly, and gallstones.
What diagnostic tests are used for hemolytic anemia?
Diagnosis includes CBC, peripheral blood smear, reticulocyte count, and measurement of serum bilirubin, lactate dehydrogenase, and haptoglobin levels.
What is the purpose of the direct antiglobulin test?
The direct antiglobulin test may identify immune-mediated hemolytic anemia.
What is the role of molecular genetic testing in hemolytic anemia?
Molecular genetic testing is utilized in suspected hereditary cases to identify specific mutations.
What is the treatment aim for hemolytic anemia?
The aim is to alleviate symptoms.
What treatments are available for hemolytic anemia?
Treatments include blood transfusion to correct anemia, folic acid to support RBC production, and corticosteroids (prednisone) at 1-2mg/kg per day, gradually tapered.
