RBCs - Clinical

Question 1

CC: prolonged fatigue s/p illness
Physical Exam: jaundice
Labs: normocytic anemia, bite cells and Heinz bodies on PBS
Family Hx: Greek Descent

Answer 1

G6PD Deficiency

Question 2

CC: left Upper abd. pain radiating to L Shoulder. Hx of jaundice since birth.
Physical Exam: Conjuctival pallor and spelnomegaly
Labs: mild normocytic anemia w/ reticulocytosis, slight increase in bilirubin, and normal homocysteine
PBS: Echinocytes

Answer 2

Pyruvate Kinase Deficiency

Question 3

CC: fever, upper R abd. pain/cramping that radiates to R U.E.
Physical Exam: scleral icterus, R.U.A. tenderness, splenomegaly
US: gallstones
Lab: mild microcytic anemia, reticulocytosis
PBS: Spherocytes (w/out central pallor)

Answer 3

Hereditary Spherocytosis (due to mutations in akyrin, spectrin, protein 4.2)

Question 4

Labs: Increase in 2,3-BPG and right shift of O2 sat curve

Answer 4

Pyruvate Kinase Deficiency

Question 5

CC: severe abdominal pain s/p dinner part (alcohol use reported). Pt. became paranoid and combative.
Physical Exam: mild diaphoresis, reddish urine

Answer 5

Acute Intermittent Porphyria
Enzyme Deficiency: Porphobilinogen

Question 6

CC: worsening fatigue and myalgia, clouded thinking
Social Hx: lives alone in downtown apartment, works at shipyard
Physical Exam: Pale, fatigued
PBS: Microcytic, hypochromic RBCs w/ basophilic stippling

Answer 6

Lead Poisoning
Elevated Enzyme: Aminolevulinic acid (lead inhibits ALA dehydratase)

Question 7

CC: severe pain in chest and back. Hx of similair episodes since childhood.
Physical Exam: pallow, mild jaundice
Labs: low Hb, Normal MCV, elevated reticulocytes
PBS: sickled cells

Answer 7

Sickle Cell (Glu6Val)

Question 8

CC: SOB, headache, dizziness. Hx of topical anesthetic cream s/p dental procedure
Physical Exam: skin & mucous membranes appear cyanotic
Labs: Methemoglobin level elevated
O2 dissociation curve shows: _________

Answer 8

Leftward shift w/ increased O2 affinity
- Methemoglobinemia

Question 9

CC: G1P2 20 weeks gestation woman w/ decreased fetal movement
Vitals: High oulse, respirations, and BP
US: hydropic fetus
Labs: B(-)
Diagnosis:__________
Lab Test to confirm: ____________

Answer 9

Diagnosis: Hemolytic Disease of the Newborn
Lab Test: Indirect Coombs Test

Question 10

CC: fever, pallor, swelling of hands/feet
Dx: autosomal recessive disorder caused by single gene defect in beta chain of hemoglobin A

Answer 10

Beta Thalassemia

Question 11

CC: Low hemotocrit, normal MCV, MCHC
Gel Electrophoresis:
HbA1 = 62%
HbS = 35%
HbF = 1%
HbA2 = 1%

Answer 11

Sickle Trait

Question 12

Neonate w/ anemia, jaundice, hepatosplenomegaly, subcutaneous edema, pleural effusion, ascites
Dx:_________
Antigens Involved:_________

Answer 12

Dx: Hydrops fetalis
Antigen: D (antibody to Rh factor)

Question 13

CC: fatigue, sore joints
Physical Exam: yellowing of sclera
Lab: MCV 62
Gel Electrophoresis:
HbF = 75%
HbA1 = 23%
HbA2 = 2%
HbS = 0%

Dx:_________________
Mutation:_______________

Answer 13

Dx: Beta Thalassemia
Mutation: promoter region of Beta Globin Gene

Question 14

CC: lethargy, SOB onset 6 months ago s/p viral infection
Physical Exam: conjuctival pallor w/ slight scleral icterus
Lab: Low Hb, elevated reticulocytes, elevated LDH, Low Haptoglobin, Elevated bilirubin
(+) direct Coombs Test

Answer 14

Autoimmune heloytic anemia

Question 15

CC: sudden onset of chest pain and SOB 3 hrs ago. Reports similar episodes in the past. Swelling of fingers & toes.
Physical Exam: splenomegaly
Labs: Low Hb, MCV normal, normal platelets
Dx: _________

Answer 15

Sickle Cell Crisis causing occlusion of small vessels

Question 16

CC: fatigue, SOB
Family Hx: sibling death - hydrops fetalis
Physical exam: mucosal pallor
Labs: Low Hb, MCV normal
PBS: target cells, hypochromic RBCs

Answer 16

Alpha- Thalassemia

Question 17

CC: lethargy, increased sleeping
Social hx: fed w/ whole cow’s milk
Physical Exam: moderate mucosal pallor
Labs: Low Hb, low MCV
Dx: ______________

Answer 17

Iron Deficiency Anemia

Question 18

CC: increasing fatigue over 6 months, recently started on iron supplement for hypochromic, microcytic anemia
Social Hx: family migrated form Greece
Vitals: High pulse, respirations
Physical Exam: splenomegalyand systolic murmur

Answer 18

Beta-Thalassemia major

Question 19

CC: worsening fatigue over 3 months, excessive menstrual bleeding
Physical Exam: appears tired, conjunctival pallor
Labs: Low Hb, Low MCV
Dx: _________

Answer 19

Iron Deficiency Anemia

Question 20

CC: dark tea-colored urine, worsening fatigue over last 2 days. Hx of fever and productive cough rx. Bactrim
Labs: Low Hb, Low Hematocrit,
PBS: bite cells, heinz bodies
Dx:______________
Test to Confirm Dx:____________

Answer 20

Dx: G6PD Deficiency
Test: enzyme activity measurement

Question 21

CC: increasing fatigue, pale appearance, brown urine in the morning
Hb: Low
Dx:_______________

Answer 21

Paroxysmal Nocturnal Hemoglobinuria - caused by complement mediated hemolysis

Question 22

Tea and Biscuit Diet

Answer 22

Folate Deficiency