Flashcards in FINALS 1: Hemoglobinopathies Deck (30)
Type of cell that is associated with the hemoglobinopathies
Disease that is caused when valine replaces glutamic acid at position 6 on both beta chains
Sickle cell disease
Sickle cell disease is caused when ______ replaces ______ at position 6 on both beta chains
In sickle cell disease no ____ is produced
In sickle cell disease _____ and ____ are seen.
Hgb S and Hgb F
Hemoglobin insolubility results when______ is formed.
Hemoglobin ____ in erythrocytes which causes the sickle shape of the RBC
In sickle cell disease, _________ haemolytic anemia with polychromasia resulting from premature release of reticulocytes
In sickle cell disease what happens to the BM
bone marrow erythroid hyperplasia (M:E ratio decreases)
Types of cells present in sickle cell disease
________ is caused when valine replaces glutamic acid at position 6 on one beta chain
Sickle cell trait
Number of beta chains affect in sickle cell disease
This _________ is the most common hemoglobinopathy in the United States
Sickle cell trait generally produces no clinical symptoms. Anemia is rare but, if present, will be _____________, and sickling can occur during rare crisis states (same as in Hgb SS).
Result of haemoglobin solubility screening test in Sickle cell trait
Sickle cell trait/disease patients have apparent immunity to what blood parasite
Hgb C disease is caused when______ replaces glutamic acid at position 6 on both beta chains.
In Hgb C disease, no _____ is produced
In Hgb C disease, ____, ____ and ____ are produced.
In Hgb C disease, ___________ anemia with target cells
In Hgb C disease is characterized by ________
intracellular rodlike C crystals
Method in which it can differentiate hemoglobins
The heterozygous Hgb C trait patient is ______, ________ (with/without?) anemia; the_____ normal beta chain is able to produce approximately 60% Hgb A and 40% Hgb C, with normal amounts of Hgb A2 and Hgb F
______ is a double heterozygous condition where an abnormal sickle gene from one parent and an abnormal C gene from the other parent inherited.
Hgb SC disease
In Hgb SC disease, severe _________ anemia with target cells occur; characterized by ______; may see rare sickle cells or C crystals; positive haemoglobin solubility screening test
In Hemoglobin E, it is caused when______ replaces glutamic acid at position 26 on the beta chain
Homozygous condition of Hemoglobin E results in ______ with microcytes and target cells; heterozygotes are _______
Hemoglobin D also known as ____
Hemoglobin D is caused when_____ replaces glutamic acid at position 121 on the beta chain