Notes in L8 - Hemoglobinopathies

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Published	11/02/2024	0bbcc7c41f5544a6bdce906897ba546f-ao-1
Published	11/02/2024	0bbcc7c41f5544a6bdce906897ba546f-ao-2
Published	11/02/2024	0bbcc7c41f5544a6bdce906897ba546f-ao-3
Published	11/02/2024	0bbcc7c41f5544a6bdce906897ba546f-ao-4
Published	11/02/2024	0bbcc7c41f5544a6bdce906897ba546f-ao-5
Published	11/02/2024	A {{c1::hemoglobinopathy}} is characterized by normal levels of gobin chain production using abnormal globin chains, a {{c1::thalassemia}} is characte…
Published	11/02/2024	Alpha globin and alpha-like globin chains are encoded by chromosome {{c1::16}}
Published	11/02/2024	β and β-like globin chains are encoded on chromosome {{c1::11}}
Published	11/02/2024	The human genome encodes {{c1::4}} copies of the α-globin gene, {{c1::2}} per copy of chromosome {{c1::16}}
Published	11/02/2024	{{c1::One}} β globin allele(s) can be found on each copy of chromosome {{c1::11}}
Published	11/02/2024	In addition to α-globin chains, chromosome {{c1::16}} also encodes two α-like globin chains called {{c1::ζ (zeta)}}-chains
Published	11/02/2024	A` hemoglobin tetramer with the subunits ζ2ε2 is isolated, what is it and when is it typically most abundant?{{c1::HB gower 1synthesized by the yolk s…
Published	11/02/2024	A hemoglobin tetramer with the subunits α2β2 is isolated, what is it and when is it typically most abundant?{{c1::hemoglobin A1adulthood, begins risin…
Published	11/02/2024	A hemoglobin tetramer with the subunits α2δ2 is isolated, what is it and when is it typically most abundant?{{c1::HbA2starts rising after birth with A…
Published	11/02/2024	A hemoglobin tetramer with the subunits α2γ2 is isolated, what is it and when is it typically most abundant?{{c1::HbFmost abundant during fetal develo…
Published	11/02/2024	Introns {{c1::remain in the nucleus}} whereas extrons {{c1::are respliced and exit the nucleus}}
Published	11/02/2024	Where is early embryonic hemoglobin synthesized?{{c1::Yolk sac}}
Published	11/02/2024	stages of gestation hemoglobin synthesis sites
Published	11/02/2024	Roughly what percent of hemoglobin is HbF near the end of gestation?{{c1::60}}%
Published	11/02/2024	HbF has a higher affinity for oxygen than HbA primarily due to {{c1::its decreased affinity for 2,3BPG}}
Published	11/02/2024	In the absence of 2,3 BPG, HbF's affinity for oxygen is {{c1::roughly equal}} to that of HbA
Published	11/02/2024	Roughly what percent contribution is HbA2 to total adult hemoglobin?{{c1::2}}%
Published	11/02/2024	Glucose is conjugated to hemoglobin in a {{c1::glycation}} reaction
Published	11/02/2024	{{c1::Glycosylation}} facilitates the conjugation of a sugar moeity to a molecule through enzymatic catalyzation, {{c1::glycation}} accomplishes this …
Published	11/02/2024	why is the a1c test so useful for diagnosing diabetes
Published	11/02/2024	what is the typical cause of hemoglobinopaties
Published	11/02/2024	Hemoglobin S disease is caused by an {{c1::E6V}} subsitution in the β-globin chain
Published	11/02/2024	Sickle cell disease is inherited in an {{c1::autosomal recessive}} pattern
Published	11/02/2024	how common is sickle cell anemia amongst african americans
Published	11/02/2024	when does sickle cell disease usually manifest and why
Published	11/02/2024	Sickle cell disease is characterized by:Episodes of pain called {{c1::crises}}Chronic {{c1::hemolysis}} and hyper{{c1::bilirubinemia}}Increased suscep…
Published	11/02/2024	Erythrocytes laden with HbS have a typical lifespan of {{c1::20}} days
Published	11/02/2024	In addition to HbS, {{c1::HbF}} and {{c1::HbA2}} will be relatively high in sickle cell disease
Published	11/02/2024	what travels further on gel electrophoresis? hbA or hbS
Published	11/02/2024	A hemoglobin β-chain E6V substitution results in a {{c1::hydrophobic, protrusion-like}} misfolding that can lead to the {{c1::polymerization of globin…
Published	11/02/2024	On a molecular level, sickle cell crises are iniated by the {{c1::spontaneous polymerization}} of HbS molecules that are in the {{c1::taut}} conformat…
Published	11/02/2024	what is sickle cell crisis at the structural level
Published	11/02/2024	Sickling of HbS-laden erythrocytes is precipitated by{{c1::AcidosisDehydrationHypoxia}}
Published	11/02/2024	Sickle cells crises are treated with:IV {{c1::hydration}}{{c1::Analgesia}}Treatment of underlying {{c1::infections}}{{c1::Packed RBC}} transfusion{{c1…
Published	11/02/2024	Sickle cell disease likely evolved to {{c1::impart resistance to plasmodium falciparum malaria}}
Published	11/02/2024	{{c1::HbC}} disease is a hemoglobinopathy characterized by a more cationic β-globin chain in which the sixth position glutamine has be repla…
Published	11/02/2024	What moves closer to the anode on gel electrophoresis, HbC or HbS?{{c1::HbS}}
Published	11/02/2024	A {{c1::compound heterozygote}} is an individual that carries two different mutant alleles
Published	11/02/2024	{{c1::Methemoglobinemia}} describes a hemoglobinopathy characterized by an oxidation of Fe2+ to Fe3+, forming HbM
Published	11/02/2024	What are some causes of methemoglobinemia?{{c1::nitrites and sulfa drugs::drugs}}{{c1::pyruvate kinase deficiency and G6PD deficiency::commmon underly…
Published	11/02/2024	what is the clinical presentation of a pt with methemoglobinemia
Published	11/02/2024	Methemoglobinemia may be treated with either {{c1::methylene blue}} or {{c1::vitamin C}} in order to reduce {{c1::Fe3+}}
Published	11/02/2024	Hemoglobinopathies typically present as {{c1::normocytic::MCV}} anemias
Published	11/02/2024	Thalassemias result in {{c1::microcytic::MCV}}, {{c1::hypochromic::MCHC}} anemias with a {{c1::normal}} RDW and {{c1::elevated}} CR
Published	11/02/2024	What lab value(s) can be used to distinguish between an iron deficiency anemia and a thalassemia? (aside from TIBC, transferrin, ferritin){{c1::RDW an…
Published	11/02/2024	Beta thalassemia major is also known as {{c1::Coolely}} disease or {{c1::Mediterranean}} anemia
Published	11/02/2024	Symtpoms of β-thalassemias manifest {{c1::after birth}}
Published	11/02/2024	What common feature is shared by β-thalassemia major and sickle cell disease?{{c1::extramedullary hematopoiesis w/skeletal changes}}
Published	11/02/2024	β-thalassemias are treated with {{c1::chronic blood transfusions}} with iron {{c1::chelation therapy}}. {{c1::Stem cell transplantation}} can offer a …
Published	11/02/2024	Alpha thalassemia # of affected genes and effects:one deletion: {{c1::silent carrier}}two deletions: {{c1::alpha thalassemia minor trait (mild anemia …
Published	11/02/2024	In α-thalassemias, excess {{c1::β}} globin chains {{c1::polymerize}}, forming {{c1::HbH and/or HbBarts}}
Published	11/02/2024	HbH has an {{c1::extremely high}} affinity for O2 relative to other forms of hemaglobin. It is composed of {{c1::4 beta globin chains}}.
Published	11/02/2024	α-thalassemia symptoms typically manifest {{c1::in utero}}
Published	11/02/2024	Excess {{c2::alpha chains}} {{c1::precipitate and are seen in beta thalassemias}}, excess {{c2::beta/gamma chains}} {{c1::form tetramers of HgH/HgBart…
Published	11/02/2024	Sixth {{c1::beta}} globin chain AA mutation in hemoglobinopathies:{{c1::HbS}}: {{c1::valine}}{{c1::HbA1}}: {{c1::glutamate}}{{c1::HbC}}: {{c1::lysine}…
Published	11/02/2024	what are the tetramers formed in thalassemia alpha intermedia and major respecitvely and why?
Published	11/02/2024	In sickle cell anemia, hydroxyurea is used to {{c1::stimulate HbF production}}
Published	11/02/2024	Each of the following chromosomes contains the following globin alleles:chromosome {{c2::11}}: {{c1::-1 episolon-2 gamma-1 delta-1 beta}}chromoso…
Published	11/02/2024	where is extramedullary hematopoiesis seen more frequently
Published	11/02/2024	how are beta thalassemias typically diagnosed{{c1::microcytic}}, {{c1::hypochromic}} hemolytic anemia with normal {{c1::rdw}} and reticular response w…
Published	11/02/2024	HgM is characterized as having a {{c1::very low}} affinity for oxygen
Published	11/02/2024	{{c1::inclusion bodies}} are the precipitated tetramers of excess globin chains in thalassemias that can result in {{c1::extravascular hemolysis (and …
Published	11/02/2024	β-thalassemia major is characterized by chronically high levels of {{c1::erythropoeitan}} which results in extramedullary hematopoiesis of the liver, …
Published	11/02/2024	is iron deficiency anemia typically hemolytic?
Published	11/02/2024	constituents of hemoglobin types:{{c1::Hb Gower 1}} : {{c2::ζ2ε2 }}{{c1::HbF}} : {{c2::α2γ2}} {{c1::HbA1}} : {{c2::α2β2 }}{{c1::HbA2}} …
Published	11/02/2024	Pharmacologic approaches for treating hemoglobinopathies1. {{c1::increase Hb F production}}2. {{c1::anti-Hb S polymerization}} - {{c2::Voxelotor: smal…
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