Notes in d. Congenital Anemias

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Published	07/28/2024	Congenital hemolytic anemias can be caused by defects in what 3 components of RBCs? What lab value do each have in common?
Published	07/28/2024	The genes for the globin chains are located on which 2 chromosomes?
Published	07/28/2024	{{c1::Beta Thalassemia}} is caused by the reduction or complete cessation of production of the beta globin chain
Published	07/28/2024	{{c1::Alpha thalassemia}} results from the reduction or complete cessation of production of alpha globin
Published	07/28/2024	Target cells are typically seen in {{c1::thalassemias}}. Target Cells are completely mature RBCs that are caused by hemoglobin settling in the {{c1::m…
Published	07/28/2024	In Beta thalassemia {{c1::minor/trait}} at least one normal copy of the beta globin gene is present
Published	07/28/2024	In Beta thalassemia {{c1::intermedia}} there is some beta globin production
Published	07/28/2024	In Beta thalassemia {{c1::major}} there is a homozygous loss of beta globin gene expression
Published	07/28/2024	{{c2::Extramedullary hematopoiesis}} and {{c2::maxillary hypertrophy}} are classically symptoms of {{c1::beta thalassemia}} which occurs because …
Published	07/28/2024	Alpha thalassemia {{c1::silent carriers}} have one alpha-gene deletion and are asymptomatic
Published	07/28/2024	Alpha thalassemia {{c1::trait}} individuals have 2 alpha gene deletions and have mild {{c1::microcytic}} anemia
Published	07/28/2024	Alpha thalassemia {{c1::hemoglobin H}} individuals have 3 alpha deletions which causes a beta-globin {{c1::tetramer}} and causes {{c1::Heinz}} bo…
Published	07/28/2024	Alpha thalassemia {{c1::hydrops fetalis}} individuals have 4 alpha gene deletions
Published	07/28/2024	HbH is a {{c1::beta}}-globin tetramer observed with the loss of {{c2::3}} alpha globin genes
Published	07/28/2024	Hb-bart is a {{c1::gamma}}-globin tetramer observed with the loss of {{c2::4}} alpha globin genes as part of the {{c1::Hydrops Fetalis}} dis…
Published	07/28/2024	Cells with hemoglobin H can be identified by the presence of {{c1::Heinz bodies}} only
Published	07/28/2024	Hereditary spherocytosis defects are defects in {{c1::vertical}} interactions. RBCs are spherical and causes {{c1::extravascular}} hemolysis. Dia…
Published	07/28/2024	Hereditary elliptocytosis defects are in {{c1::horizontal}} interactions. RBC is elongated which causes {{c1::extravascular}} hydrolysis
Published	07/28/2024	What are some key factors in hemoglobin?
Published	07/28/2024	Hemoglobin defects can be caused by {{c1::amino acid mutations}} in the globin chains which causes {{c1::defective}} solubility or reduced or absence …
Published	07/28/2024	What are the main factors of sickle cell syndrome?
Published	07/28/2024	Sickle Cell Syndrome is {{c1::autosomal recessive::inheritance pattern}} and caused by a substitution of mutant {{c1::valine}} for normal {{c1::glutam…
Published	07/28/2024	Sickle cell patients are asymptomatic until 6 months (after the transition of fetal Hgb (α2γ2) to adult Hgb (α2β2)) and experience {{c1::chronic}} hem…
Published	07/28/2024	Other sickle syndromes include Hemoglobin {{c1::AS}} – “Sickle trait” • Only symptomatic in extreme conditions of pregnancy, anesthesia, hypoxia,…
Published	07/28/2024	G6PD Deficiency causes {{c1::episodic}} hemolytic anemia and Pyruvate Kinase Deficiency causes {{c1::chronic}}
Published	07/28/2024	The clinical factors to evaluate prenatal screens & tests include ◼Diagnostic vs {{c1::screening}} (How definite is the answer?) ◼Invasive vs…
Published	07/28/2024	What are the options for fetal genetic screening?
Published	07/28/2024	{{c1::Non-invasive prenatal testing}} obtains cell free DNA from {{c1::placenta}}. It is made up of fragments of degraded nucleic acid due to apoptosi…
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