Band 3, Ankyrin, Protein 4.2, Alpha or beta spectrin
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This test is used for RBC stability and Hereditary Spherocytosis.
Osmotic Fragility Test
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What are the test used to detect Hereditary Spherocytosis?
Osmotic Fragility Test and Eosin-59 Maleimide Binding Test
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What are the 3 clinical manifestations of Hereditary Spherocytosis?
(Format: jjjj, aaaa, sssss)
Jaundice, anemia, splenomegaly
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True or False: In hereditary spherocytosis PBS, there is a presence of spherocytes and microspherocytes.
True
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True or False: In hereditary spherocytosis, the MCHC is increased.
True
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Caused by defects in proteins that disrupt the horizontal or lateral interactions in the protein cytoskeleton. This weakened the spectrin interactions with actin junctional complexes.
Hereditary Elliptocytosis
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True or False: The clinical findings for Hereditary Elliptocytosis is it is symptomatic.
False
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This deficiency it causes by mutation in gene for band 3 and leads to increased rigidity of the membrane and resistance to malaria.
Hereditary Ovalocytosis or Southeast Asian Ovalocytosiss
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RBCs are excessively to sodium and potassium at 37C. High influx of sodium, means high output of potassium.
Overhydrated Hereditary Stomatocytosis or Hereditary Hydrocytosis
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It is the most common form of stomatocytosis and RBCs are excessely permeable potassium only. High output/leakage of potassium, means no sodium ions coming in.
Dehydrated Hereditary Stomacytosis or Hereditary Xerocytosis
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It is an excessive potassium output from RBCs at room temperature in vitro but not at body temperature.
Familial Pseudohyperkalemia
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What is the remedy for Folic Acid Deficiency during therapy?
Folic Acid Supplement
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It caused by cold-induced leakage of sodium and potassium from the RBCs.
Cryohydrocytosis
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It is for patients that do not have a D-antigen or Rh group and needs a stomatocytosis.
Rh-Deficiency Syndrome
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It is group of rare inherited disorders characterized by neurologic impairment and acanthocytes on the peripheral blood film.
Neuroacanthocytosis
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It is characterized by absence in the plasma of chylomicrons, VLDL, and LDL. Hence, it decreases Triglyceride and cholesterol in plasma.
Abetalipoproteins
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Where mutation in precursor for Kell blood group antigens.
Mcleod Syndrome
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Characterized by chorea, hyperkinesia, cognitive impairments, and neuropsychiatric symptoms.
Chorea Acanthocytosis or ChAc
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May be caused by poor PBS preparation and associated with acute alcoholism, malignancies, and cardiovascular disease.
Acquired Stomatocytosis
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It is associated with severe liver disease and free cholesterol accumulates in RBC membrane forming projections.
Spur Cell Anemia
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Where mutation occurs in a hematopoietic stem cell that leads to a defect in platelets, granulocytes, monocytes, and lymphocytes. It is considered to be under in **hemolytic anemia**, hence served as its **primary component.**
Paroxysmal Nocturnal Hemoglobinuria
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It is the most common RBC enzyme defect the allows to convert the hemoglobin to methemoglobin. RBCs also contains Heinz Bodies. This defect has the **presence of fava beans**.
G6PD Deficiency
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It is part of hexose monophase shunt and protects hemoglobin from oxidative denturation.
G6PD
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It is a hemolytic episode caused by fava beans.
Favism
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This enzyme is part of Embden-Meyerhof Pathway.
Pyruvate Kinase
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This deficiency can vary from asymptomatic to severe.
Pyruvate Kinase Deficiency
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What are the common manifestations of Pyruvate Kinase Deficinecy?
Studied by 8 people
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