Exam 4 Study Guide Flashcards
The anemia with spoon shaped RBC’s and two bars across the center
Southeastern Asian Ovalocytes
When T-cells suppress stem cell proliferation, or the antibody directs against the antigen. Pancytopenia results from viruses, chemicals, or radiation exposure, this is
Aplastic Anemia
A spectrin deficiency in alpha and beta regions that increases sensitivy to heat, causing hemolysis at 56 degrees Celsius and rbcs appear crenated, fragmented, and budded
Hereditary Pyropokilocytosis
A sex-linked enzyme deficiency in the EMP that is unable to reduce glutathione to protect rbcs and symptoms include decrease hgb and hct with 28-48 hours, heinz bodies, bite cells, and a triggering cause by fava or broad bean ingestion
G6PD Deficiency
An enzyme deficiency leading to an inability of RBCs to generate ATP
Pyruvate Kinase Defieicny
The anemia that causes a DNA repair defect and bone marrow failure resulting in congenital deformities and increased Hgb F
Fanconi Anemia
The anemia that leads to immature blood cells failing to develop normally causing congenital deformities and increased risk of developing AML (acute myeloid leukemia)
Diamond-Blackfan Anemia
A stomatin and protein 7 band deficiency with abnormal K+ and Na+ permeability, with the presence of stomatocytes
Hereditary Stomatocytosis
A defect in the RBC membrane lacking proteins CD 55 and CD 59, making RBCS susceptible to complement lysis due to X-Linked PIGA mutation, causing symptoms of hemolytic anemia, RBCs being destroyed at night, hemoglobinuria in the mornings, Heinz bodies, positive Sugar water, and Ham’s test, flow cytometry and FLAER
Paroxysmal Nocturnal Hemoglobinuria
A deficiency of spectrin and akyrin causing symptoms of spherocytes, polychromasia, increased osmotic fragility, cells lysing at 0.65% NaCl, retic count 3-10%, MCHC >36%, and cholelithiasis (gallstones)
Hereditary Spherocytosis
A spectrin deficiency in alpha and beta regions with greater than 25% elliptocytes
Hereditary Elliptocytosis
RBCs with hemoglobin puddling on a cells periphery
Hereditary Xerocytosis
A defect of Anti-P antibody that attaches to RBCs at low temperatures, causing lysis at warmer temperatures with symptoms of intravascular hemolysis and a positive Donath-Lansteiner test
Paroxysmal Cold Hemoglobinuria
A defect in which IgM autoantibody binds complement at 0-5 Celsius, causing lysis at 25-30 degrees Celsius, symptoms include positive DAT test, mycoplasma pneumonia, and a CBC retest after incubating at 37 degrees Celsius
Cold Agglutinin Syndrome
When valine (GAG) is substituted for glutamic acid (GTG) at the 6th position on beta chain, causing
Sickle Cell Anemia (Hgb SS)
Where is Sickle Cell Anemia SS commonly seen upon
African Americans
What test can be used to detect sickle cell anemia SS
Cellulose Acetate – pH 8.6: Hgb S migrates with G, D, Lepore
Citrate agar – pH 6.2: Hgb S separates from others
What are the lab features of sickle cell SS
Positive solubility test
Hgb S is present on electrophoresis
Severe anemia
Sickle cells, target cells, Howell-Jolly bodies, Pappenheimer bodies, polychromasia, NRBCs
What are the features seen in Sickle Cell trait AS and the lab findings
Asymptomatic
Seen in African Americans
Hgb S < 40% on electrophoresis
Normal CBC and Peripheral Blood Smear (PBS)
What is the cause of Hemoglobin C
Lysine substituted for Glutamic acid at 6th position on beta chain
What test can be used to detect Hemoglobin C and what are the lab findings
Cellulose Acetate – pH 8.6: Hgb C migrates with A2, C, OArab, CHarlem
Citrate agar – pH 6.2: Separates C from others
Hgb C 90% on electrophoresis
Hgb C Crystals
Target cells 50–90%
What are the lab findings for Hgb C Trait (Hgb AC)
Hgb C on electrophoresis 40%
Target cells 40%
What are the lab findings for Hgb SC Disease (Hgb SC)
Hgb SC Crystals
Hgb S 50% on electrophoresis
Hgb C 50% on electrophoresis
What tests can be used to detect Hgb E (Hgb EE), what is it seen in, and what are the lab findings
Cellulose Acetate – pH 8.6: Hgb E migrates with A2, C, OArab, CHarlem
Southeast Asian individuals
Second most common hemoglobinopathy
Microcytic, hypochromic anemia
Hgb E 90% on electrophoresis
