Module 4 Hematologic Disorders

Question 1

Multifactoral atherosclerosis: genetic factors

Answer 1

• 50% of risk has been attributed to genetics.
• Chromosome 9 has been associated with risk
• Usually many different genes working together with each single gene having a small effect.

Question 2

Multifactoral atherosclerosis: environmental factors

Answer 2

• Smoking
• Hypertension
• Glucose intolerance
• Elevated cholesterol and low density lipoproteins
• Decreased physical activity
• Obesity
• Weight fluctuations
• Ineffective stress management

Question 3

Familial hypercholesterolemia

Answer 3

• Most common single-gene cause of atherosclerosis
• Autosomal dominant
• Affects 1 in 500 people
• 50% of affected men die fromm MI before age 60 and 15% of women will have fatal MI before age 60

Question 4

Factor V Leiden

Answer 4

• Genetic thrombophilia that increases risk of blood clots
• Hormonal birth control increases risk even without the factor present
• Not everyone with Factor V Leiden will have a problem
• 1 bad copy of the gene increases risk of astrokeby 8times

Question 5

Define macrocytic normochromic anemia

Answer 5

Disruption of DNA synthesis of blast cells in bone marrow produces Megaloblasts- large abnormally shaped RBC with normal hemoglobin

Question 6

What two deficiencies cause macrocytic normochromic anemia?

Answer 6

Folate deficiency and B12 deficiency

Question 7

Pernicious anemia etiology and pathogenesis.

Answer 7

Lack of intrinsic factor which prevents absorption of vitamin B12. This causes megaloblastic dysplasia. Some evidence it results from genetically determined autoimmune disease. Affects older people, esp. women.

Question 8

Pernicious anemia clinical manifestations.

Answer 8

Mild: few symptoms
Severe: marked anemia, neurologic deficits, peripheral nerve degeneration. May progress to megaloblastic madness.

Question 9

Pernicious anemia treatment.

Answer 9

B12 replacement. Neuro damage cannot be reversed.

Question 10

Folate deficiency etiology and pathogenesis.

Answer 10

Alcoholism is primary cause.

Results in abnormal DNA synthesis of RBC.

Question 11

Folate deficiency clinical manifestations.

Answer 11

Similar to B12 deficiency without the neuro defects.

Question 12

Pernicious anemia lab results.

Answer 12

Low RBC
Low Reticulocytes
Low WBC
Low Platelets
Increased MCV
Normal MCHC
Normal MCH
Normal to low serum colbalamine
Increased homocysteine
Increased methymalonic acid

Question 13

Folate deficiency lab results

Answer 13

Low RBC
Low Reticulocytes
Low WBC
Low Platelets
Increased MCV
Normal MCHC
Normal MCH
Low serum folate
Increased Homocysteine
Normal methymalonic acid

Question 14

Microcytic Hypochromic Anemia

Answer 14

Blood cell is small and pale

Question 15

Causes of microcytic hypochromic anemia

Answer 15

**Iron deficiency is most common
Nutritional deficiency (Iron), bleeding, decreased GI absorption, pregnancy, and renal failure.

Question 16

Iron deficiency anemia labs.

Answer 16

Low RBC
Low Reticulocytes
Low MCV, MCH, MCHC
Decreased serum ferritin and serum iron
Increased TIBC (total iron binding capacity-#of receptors.)

Question 17

General anemia symptoms.

Answer 17

Fatigue, exercise intolerance, weakness, headaches, irritability, palpitations.

Question 18

Iron Deficiency anemia symptoms

Answer 18

General plus sore tongue, pica, brittle nails, spoon shaped nails (loilonychias), blue sclerae

Question 19

Thalassemia

Answer 19

Group of inherited disorders caused by variant or missing genes.
Trait or minior may not have symptoms. Major may require blood transfusions.

Question 20

Thalassemia lab results.

Answer 20

Microcytic RBC’s
Low MCV, MCH, and MCHC
Hgb Electrophoresis to determine type of abnormal hgb.
Hemolysis will release unconjugated bilirubin.

Question 21

Thalassemia symptoms

Answer 21

General plus leg cramps and pale skin.

Question 22

Sickle Cell Anemia etiology and pathogenesis.

Answer 22

Autosomal recessive disorder.
Defect in hemoglobin synthesis resulting in Hgb S.
Valine is substituted for glutamic acid.

Question 23

Sickle cell anemia progression

Answer 23

Increased hemolysis of RBC’s in spleen leads to Low RBC’s and severe anemia, which leads to hyperbilirubinemia (jaundice)

Question 24

When do sickle cell symptoms appear?

Answer 24

Age 6 months

Question 25

What is the most frequent cause of death in sickle cell?

Answer 25

Infection.

Question 26

What causes hemolytic anemia of the newborn?

Answer 26

RH Neg mother’s body mounts an immune response to RH pos fetus due to prior sensitization. IgG antibodies cross the placenta and attack the Positive RH featal RBCs, causing hemolysis

Question 27

Will Rhogam work if mom already has developed antibodies?

Answer 27

no.

Question 28

Outcome of hemolytic anemia of the newborn.

Answer 28

Severe jaundice and in worst cases erythroblastosis fetalis and possibly death.

Question 29

What is polycythemia?

Answer 29

Excessive RBCs which cause blood viscosity.

Question 30

What is the most common polycythemia and the cause?

Answer 30

Secondary polycythemia - caused by chronic hypoxemia. It is a compensation for decreased O2. **Heavy smokers, increased altitude, CHF

Question 31

What causes relative polycythemia?

Answer 31

Due to dehydration or stress. Causes spurious increase in RBCs.

Question 32

What is polycythemia vera?

Answer 32

Rare. Occurs most often in men. Associated with gene mutation. Increased uric acid. Increased risk for hypertension and stroke.