HSC4553 Exam 1 Study Guide Part 2

True or False: Venous blood is usually collected from the anterior cubital artery.

False. Cubital vein.

What are RBC indices?

RBC indices: Mean corpuscular volume (MCV), Mean corpuscular hemoglobin (MCH), Mean corpuscular hemoglobin concentration (MCHC), Red blood cell distribution width (RDW).

What are normal factors intervening in RBC count?

Interfering factors: Pregnancy, Living in high altitude, Hydration status, Drugs.

What can cause Anemia?

Hemorrhage, Normal Pregnancy, Hemolysis, Dietary deficiency genetic aberrations, Drug ingestion, Marrow failure, Chronic illness, Kidney failure.

In this condition the number of RBC increases as a result of illnesses or as a physiologic response to external situations.

Erythrocytosis.

What are some known causes for erythrocytosis?

Congenital heart disease, Severe COPD, Polycythemia vera, Severe Dehydration.

True or False: Hemoglobinopathies are associated with erythrocytosis.

False. They are associated with anemias.

What are reticulocytes?

They are immature RBC produced by the BM and released into the peripheral blood.

A normal or low count of these cells in a patient with anemia indicates that the bone marrow response to anemia by way of RBC production is inadequate.

Reticulocytes.

How do you measure the reticulocyte index?

Reticulocyte index = Reticulocyte count (%) x [Patient's hematocrit / Normal hematocrit].

Which conditions are associated with increased reticulocyte count?

Hemolytic anemia, Hemorrhage, Hemolytic disease of the newborn, Following treatment of iron- or vitamin B12- or folate-deficiency anemia.

Which conditions are associated with decreased reticulocyte count?

Iron-deficiency anemia; folate deficiency anemia, Pernicious anemia, Aplastic anemia, Radiation therapy, Marrow failure.

What is obtained by measuring the ratio of the height of the RBC column compared with the original total blood column and multiplied by 100%?

Hematocrit.

What defines mean corpuscular volume?

MCV is a measure of the average volume of a red blood corpuscle.

What does Red blood cell distribution width (RDW) measure?

Measurement of how much red blood cells vary in size.

These conditions are associated with increased MCV.

Pernicious anemia, Vitamin B12-deficiency anemia, Folic acid deficiency, Chronic liver disease.

These conditions are associated with decreased MCV.

Iron-deficiency anemia, Thalassemia, Anemia of chronic illness.

This blood test decreases when hemoglobin synthesis is reduced.

MCH.

True or False: increased MCH is associated with microcytic anemias.

False. Macrocytic.

Iron deficiency anemia and Thalassemia are associated with --------MCHC.

Decreased.

List disorders associated with increased RDW.

Iron deficiency anemia, Vitamin B12- or folate-deficiency anemia, Hemoglobinopathies (e.g., Sickle cell disease), Hemolytic anemias, Post-hemorrhagic anemias.

True or False: Spherocyte is a RBC shape abnormality found in Thalassemia patients.

False. Hemolytic anemias.

Hyperchromic describes which type of cell abnormality?

RBC color abnormality.

List examples of normocytic normochromic anemias.

Iron deficiency (early), Chronic illness, Acute blood loss, Aplastic anemia, Renal disease.

Lead poisoning causes which type of anemia?

Microcytic hypochromic anemia.

List examples of macrocytic normochromic anemia.

Vitamin B12 or folate deficiency, Myeloid leukemia, Chemotherapy, Alcohol toxicity.

What is leukocytosis?

Increased total WBC count.

List examples of conditions linked to leukocytosis.

Infection, Leukemic neoplasia, Other malignancy, Inflammation, Dehydration, Thyroid storm, Steroid use.

List examples of conditions linked to leukopenia.

Drug toxicity, Bone marrow failure, Overwhelming infections, Autoimmune disease, Hypersplenism.

Neutrophilia is ------ while neutropenia is ------ in neutrophil count.

Elevated - Decreased.

Hyperthyroidism is associated with which WBC differential count abnormality?

Basopenia.

List conditions associated with thrombocytosis.

Malignant disorders, Polycythemia vera, Post-splenectomy syndrome, Rheumatoid arthritis, Iron deficiency anemia.

Why is there thrombocytosis following hemorrhagic anemia?

Anemia stimulates marrow including megakaryocytes.

Why is there thrombocytosis following splenectomy?

Spleen removal leads to accumulation of platelets.

What is Immune thrombocytopenia?

Autoimmune condition destroying platelets.

Why is the mean platelet volume MPV increased in thrombocytopenia?

Large immature platelets are released by marrow increasing MPV.

Conditions associated with low MPV.

Aplastic anemia, Chemotherapy, Wiskott-Aldrich syndrome.

Conditions associated with high MPV.

Immune thrombocytopenia, Hemorrhage, Vitamin B12 or folate deficiency.

Which technique is used to assess cellularity of the bone marrow?

Bone marrow aspiration/biopsy.

What are the advantages of using flow cytometry for BM analysis?

Immunophenotyping, cell cycle analysis, and ploidy.

True or False: Klinefelter syndrome results from a structural abnormality of chromosome X.

False. It is an aneuploidy from excess X chromosome in males.

What does this karyotype depict?

Down syndrome (Trisomy 21).

What does this karyotype depict?

Cri du chat syndrome (deletion of part of chromosome 5).

What does this karyotype depict?

Edwards Syndrome (Trisomy 18).

Which cell cycle stage are chromosomes isolated from?

Metaphase.

True or False: PCR is useful to detect gene mutations, chromosomal abnormalities and aneuploidies.

False. Only gene mutations.

This molecular technique allows amplifying low levels of specific DNA sequences in a patient specimen.

PCR.

True or False: The bigger the distance between the primer-binding sites, the bigger the size of the PCR product.

True.

Why is Taq polymerase used in PCR?

Thermostable and can withstand temperature changes.

What are PCR steps?

Denaturation, annealing, extension.

What happens during the annealing step of PCR?

Primers bind to their targets, flanking the region of interest.

What does N represent in the number of amplicons equation = 2N?

Number of PCR cycles.

What can cause primer dimerization?

Primers sequence that complement each other.

In quantitative PCR, the length of the lag phase is ---- proportional to the amount of starting material. This means that the ----- the lag phase, the -------- the starting material.

Inversely proportional. Shorter lag phase means more abundant starting material.

Molecular techniques where amplification process is similar to regular PCR but allows for amplification of RNA molecules by converting them to cDNA first.

RT-PCR.

What is the main difference between PCR and RT-PCR applications?

PCR amplifies DNA; RT-PCR detects gene expression in RNA.

This is a modified DNA replication reaction that identifies DNA sequence and potential point mutations using ddNTPs and dNTPs in the reaction mix.

Sanger sequencing.

What is the principle of Fluorescence in situ hybridization (FISH)?

FISH uses nucleic probes labeled with fluorescent probes to identify DNA sequences.

What can FISH detect?

Genetic deletion, duplication, or rearrangement.

If there are more than 2 copies of the HER2/neu gene, this means what?

HER2 positive indicates aggressive breast cancer.

Method used to detect multiple genes mutations simultaneously.

Microarray genetic testing.

Tumor suppressor genes associated with breast and ovarian tumors when mutated.

BRCA1 and BRCA2.

This BRCA is associated with breast, prostate and colon cancer in males.

BRCA2.

Which cancer is associated with mutation of a tumor suppressor gene APC located on chromosome 5?

Familial adenomatous polyposis (FAP).

DNA mismatch repair genes in chromosome 5 associated with many cancers when mutated.

MLH1, MLH2, and MLH6.

Individual positive for Angiotensinogen genetic mutations are at higher risk for which condition?

Cardiovascular disease.

Which mutation causes Familial Hypercholesterolemia?

LDL receptor and Apolipoprotein B genes.

Disease resulting from mutation in the hexoaminidase gene (HEXA) which allows accumulation of gangliosides leading to nervous system damage.

Tay-Sachs Disease.

Disease that results from a mutation in chloride channel causing accumulation of thick mucus in the lungs and the digestive tract of affected subjects.

Cystic fibrosis.

True or False: Cystic fibrosis is inherited in an autosomal recessive pattern meaning both copies of the gene should be affected in order for the carrier to show the mutation.

True.

Mutation that causes increased intestinal iron absorption and intracellular iron accumulation.

Mutation in HFE gene (H63D and C282Y).

Disease referred to as iron overload disorder.

Hereditary hemochromatosis.

What is RET proto-oncogene mutation associated with?

Familial Medullary Thyroid Carcinoma.

How is FMTC treated?

Removing the thyroid before tumor spreads.

What is P16 mutation associated with?

Melanoma and pancreatic cancer.