Lesson 11: Intrinsic Defects Leading to Increased Erythrocyte Destruction

Defects in proteins that disrupt the vertical interactions between transmembrane proteins and the underlying protein cytoskeleton.

Defects in proteins that disrupt the vertical interactions between transmembrane proteins and the underlying protein cytoskeleton.

Hereditary Spherocytosis

What transmembrane proteins does hereditary spherocytosis affects?

[ Format: bbbb 2, aaaa, pppp 3.5, aaaa or bbbb ]

Band 3, Ankyrin, Protein 4.2, Alpha or beta spectrin

This test is used for RBC stability and Hereditary Spherocytosis.

Osmotic Fragility Test

What are the test used to detect Hereditary Spherocytosis?

Osmotic Fragility Test and Eosin-59 Maleimide Binding Test

What are the 3 clinical manifestations of Hereditary Spherocytosis?

(Format: jjjj, aaaa, sssss)

Jaundice, anemia, splenomegaly

True or False: In hereditary spherocytosis PBS, there is a presence of spherocytes and microspherocytes.

True

True or False: In hereditary spherocytosis, the MCHC is increased.

True

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

True or False: The clinical findings for Hereditary Elliptocytosis is it is symptomatic.

False

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

RBCs are excessively to sodium and potassium at 37C. High influx of sodium, means high output of potassium.

Overhydrated Hereditary Stomatocytosis or Hereditary Hydrocytosis

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

It is an excessive potassium output from RBCs at room temperature in vitro but not at body temperature.

Familial Pseudohyperkalemia

What is the remedy for Folic Acid Deficiency during therapy?

Folic Acid Supplement

It caused by cold-induced leakage of sodium and potassium from the RBCs.

Cryohydrocytosis

It is for patients that do not have a D-antigen or Rh group and needs a stomatocytosis.

Rh-Deficiency Syndrome

It is group of rare inherited disorders characterized by neurologic impairment and acanthocytes on the peripheral blood film.

Neuroacanthocytosis

It is characterized by absence in the plasma of chylomicrons, VLDL, and LDL. Hence, it decreases Triglyceride and cholesterol in plasma.

Abetalipoproteins

Where mutation in precursor for Kell blood group antigens.

Mcleod Syndrome

Characterized by chorea, hyperkinesia, cognitive impairments, and neuropsychiatric symptoms.

Chorea Acanthocytosis or ChAc

May be caused by poor PBS preparation and associated with acute alcoholism, malignancies, and cardiovascular disease.

Acquired Stomatocytosis

It is associated with severe liver disease and free cholesterol accumulates in RBC membrane forming projections.

Spur Cell Anemia

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

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

It is part of hexose monophase shunt and protects hemoglobin from oxidative denturation.

G6PD

It is a hemolytic episode caused by fava beans.

Favism

This enzyme is part of Embden-Meyerhof Pathway.

Pyruvate Kinase

This deficiency can vary from asymptomatic to severe.

Pyruvate Kinase Deficiency

What are the common manifestations of Pyruvate Kinase Deficinecy?

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Chronic Hemolysis, Anemia, Jaundice, Splenomegaly, Increased incidence of gallstones

Complete the following:

[ Format: 1.) a; 2.) c; 3.) d; 4.) b]

1.) a; 2.) c; 3.) c; 4.) a; 5.) a; 6.) a; 7.) a; 8.) a; 9.) a; 10.) d; 11.) a; 12.) e; 13.) d; 14.) b; 15.) b