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Red Blood Cell Enzymopathies
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Hereditary Spherocytosis
Mutation: Mutations in ANK1, SPTA1, SPTB, SLC4A1, or EPB42, Symptoms: Hemolytic anemia, jaundice, splenomegaly, Treatment: Folic acid supplementation, splenectomy, supportive care
Thalassemia
Mutation: Autosomal recessive mutations leading to reduced (β-thalassemia) or absent (α-thalassemia) globin chain production, Symptoms: Microcytic anemia, bone deformities, organomegaly, Treatment: Blood transfusions, iron chelation therapy, bone marrow transplant
Pyruvate Kinase Deficiency
Mutation: Autosomal recessive mutation in PKLR gene, Symptoms: Hemolytic anemia, jaundice, splenomegaly, Treatment: Blood transfusions, splenectomy, supportive care
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
Mutation: X-linked mutation in G6PD gene, Symptoms: Hemolytic anemia, neonatal jaundice, Treatment: Avoidance of oxidative stress (e.g., certain foods, infections, drugs like sulfonamides)
Sickle Cell Anemia
Mutation: Autosomal recessive mutation in HBB gene (Glu6Val), Symptoms: Vaso-occlusive crises, anemia, organ damage, Treatment: Hydroxyurea, pain management, blood transfusions
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