Practice questions Anemia VI
Practice questions
Anemia VI
© Jun Wang, MD, PhD
Abbreviations:
|
Hb: hemoglobin |
HCT: hematocrit |
|
MCV: Mean Corpuscular Volume |
MCH: Mean Corpuscular Hemoglobin |
|
RDW: Red Cell Distribution Width |
TIBC: total iron binding capacity |
1. Use this case for the next five questions. A 28-year-old male presents to the emergency department with sudden onset jaundice, dark urine, and fatigue. He mentions that these symptoms started shortly after he took an over-the-counter antibiotic for a urinary tract infection. He denies any history of similar episodes, but his mother recalls he had similar symptoms as a child. Physical examination reveals scleral icterus and mild splenomegaly. Laboratory findings are as follows:
Reticulocyte count: 6% (0.5-2.5%)
Total bilirubin: 5 mg/dL (0.1-1.2 mg/dL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
LDH: 450 IU/L (140-280 IU/L)
Peripheral blood smear reveals some red cells with semicircular portion lost, while some with peripheral vacuoles. What test is likely to confirm the diagnosis?
B. Eosin-5-maleimide (EMA) binding assay
C. Flow-cytometry for RBC bound CD55 and CD59
D. Hemoglobin electrophoresis
E. Molecular test for PKLR mutation
2. A 28-year-old male presents to the emergency department with sudden onset jaundice, dark urine, and fatigue. He mentions that these symptoms started shortly after he took an over-the-counter antibiotic for a urinary tract infection. He denies any history of similar episodes, but his mother recalls he had similar symptoms as a child. Physical examination reveals scleral icterus and mild splenomegaly. Laboratory findings are as follows:
Reticulocyte count: 6% (0.5-2.5%)
Total bilirubin: 5 mg/dL (0.1-1.2 mg/dL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
LDH: 450 IU/L (140-280 IU/L)
Peripheral blood smear reveals some red cells with semicircular portion lost, while some with peripheral vacuoles. What additional serum test result is likely reduced?
B. Homocysteine
C. Iron
D. Lead
E. TIBC
3. A 28-year-old male presents to the emergency department with sudden onset jaundice, dark urine, and fatigue. He mentions that these symptoms started shortly after he took an over-the-counter antibiotic for a urinary tract infection. He denies any history of similar episodes, but his mother recalls he had similar symptoms as a child. Physical examination reveals scleral icterus and mild splenomegaly. Laboratory findings are as follows:
Reticulocyte count: 6% (0.5-2.5%)
Total bilirubin: 5 mg/dL (0.1-1.2 mg/dL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
LDH: 450 IU/L (140-280 IU/L)
Peripheral blood smear reveals some red cells with semicircular portion lost, while some with peripheral vacuoles. What is most likely the cause of his dark urine?
B. Metabolites of antibiotics
C. Over-concentration of urine
D. Urinary bladder infection
E. Urinary tract bleeding
4. A 28-year-old male presents to the emergency department with sudden onset jaundice, dark urine, and fatigue. He mentions that these symptoms started shortly after he took an over-the-counter antibiotic for a urinary tract infection. He denies any history of similar episodes, but his mother recalls he had similar symptoms as a child. Physical examination reveals scleral icterus and mild splenomegaly. Laboratory findings are as follows:
Reticulocyte count: 6% (0.5-2.5%)
Total bilirubin: 5 mg/dL (0.1-1.2 mg/dL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
LDH: 450 IU/L (140-280 IU/L)
Peripheral blood smear reveals some red cells with semicircular portion lost, while some with peripheral vacuoles. What is the cause of his RBC changes?
B. ATP insufficiency
C. Cytoskeletal abnormalities
D. Lack of NADPH production
E. Over activity of surface complements
5. A 28-year-old male presents to the emergency department with sudden onset jaundice, dark urine, and fatigue. He mentions that these symptoms started shortly after he took an over-the-counter antibiotic for a urinary tract infection. He denies any history of similar episodes, but his mother recalls he had similar symptoms as a child. Physical examination reveals scleral icterus and mild splenomegaly. Laboratory findings are as follows:
Reticulocyte count: 6% (0.5-2.5%)
Total bilirubin: 5 mg/dL (0.1-1.2 mg/dL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
LDH: 450 IU/L (140-280 IU/L)
Peripheral blood smear reveals some red cells with semicircular portion lost, while some with peripheral vacuoles. Additional test reveals markedly reduced glucose-6-phosphate dehydrogenase. What is the diagnosis?
B. G-6-PD deficiency
C. Hereditary spherocytosis
D. Paroxysmal nocturnal hemoglobinuria
E. Pyruvate kinase deficiency
6. Use this case for the next five questions. A 5-year-old boy presents to the clinic with fatigue and pale skin. He has a few family members with anemia that need blood transfusion during childhood. Physical examination reveals mild jaundice and splenomegaly. He is at 3rd percentile of height and weight. Laboratory studies reveal the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 10% (0.5-2.5%)
Total bilirubin: 4.5 mg/dL (0.3-1.2 mg/dL)
Indirect bilirubin: 3.8 mg/dL (0.1-1.0 mg/dL)
Peripheral blood smear is unremarkable except a few nucleated RBC. What is the cause of his CBC findings?
B. Hemoglobinopathy
C. Hemolysis
D. Iron deficiency
E. Vitamin B12 deficiency
7. A 5-year-old boy presents to the clinic with fatigue and pale skin. He has a few family members with anemia that need blood transfusion during childhood. Physical examination reveals mild jaundice and splenomegaly. He is at 3rd percentile of height and weight. Laboratory studies reveal the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 10% (0.5-2.5%)
Total bilirubin: 4.5 mg/dL (0.3-1.2 mg/dL)
Indirect bilirubin: 3.8 mg/dL (0.1-1.0 mg/dL)
Peripheral blood smear is unremarkable except a few nucleated RBC. Direct antiglobulin test is negative. What test needs to be performed next?
B. Enzymatic activity of pyruvate kinase
C. Flow-cytometry for RBC bound CD55 and CD59
D. Hemoglobin electrophoresis
E. Serum iron, folate and VB12 test
8. A 5-year-old boy presents to the clinic with fatigue and pale skin. He has a few family members with anemia that need blood transfusion during childhood. Physical examination reveals mild jaundice and splenomegaly. He is at 3rd percentile of height and weight. Laboratory studies reveal the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 10% (0.5-2.5%)
Total bilirubin: 4.5 mg/dL (0.3-1.2 mg/dL)
Indirect bilirubin: 3.8 mg/dL (0.1-1.0 mg/dL)
Peripheral blood smear is unremarkable except a few nucleated RBC. Additional test reveals markedly reduced activity of pyruvate kinase in lysed RBCs. What gene is most likely mutated?
B. b globin
C. PIGA
D. PKLR
E. SPTA1
9. A 5-year-old boy presents to the clinic with fatigue and pale skin. He has a few family members with anemia that need blood transfusion during childhood. Physical examination reveals mild jaundice and splenomegaly. He is at 3rd percentile of height and weight. Laboratory studies reveal the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 10% (0.5-2.5%)
Total bilirubin: 4.5 mg/dL (0.3-1.2 mg/dL)
Indirect bilirubin: 3.8 mg/dL (0.1-1.0 mg/dL)
Peripheral blood smear is unremarkable except a few nucleated RBC. Additional test reveals markedly reduced activity of pyruvate kinase in lysed RBCs. What is the cause of his hemolysis?
B. Antibody against RBC surface antigens
C. Loss of membrane elasticity
D. Oxidative stress
E. Precipitation of abnormal hemoglobin
10. A 5-year-old boy presents to the clinic with fatigue and pale skin. He has a few family members with anemia that need blood transfusion during childhood. Physical examination reveals mild jaundice and splenomegaly. He is at 3rd percentile of height and weight. Laboratory studies reveal the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 10% (0.5-2.5%)
Total bilirubin: 4.5 mg/dL (0.3-1.2 mg/dL)
Indirect bilirubin: 3.8 mg/dL (0.1-1.0 mg/dL)
Peripheral blood smear is unremarkable except a few nucleated RBC. Additional test reveals markedly reduced activity of pyruvate kinase in lysed RBCs. What is the diagnosis?
B. Hereditary spherocytosis
C. Paroxysmal nocturnal hemoglobinuria
D. Pyruvate kinase deficiency
E. Warm antibody autoimmune hemolytic anemia
11. Use this case for the next five questions. A 4-year-old girl presents to the clinic with recurrent episodes of jaundice and fatigue. She is otherwise healthy. Her mother had a similar condition during childhood that required splenectomy. Physical examination reveals mild pallor of skin and mucosa. Icteric sclera is noted. Her laboratory studies reveal the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 7% (0.5-2.5%)
Total bilirubin: 3.2 mg/dL (0.3-1.2 mg/dL)
Direct Coombs test: negative
An image of her peripheral blood smear is shown. Which of the following diagnostic tests would most likely confirm the diagnosis?
B. Enzymatic activity of G6PD
C. Eosin-5-maleimide binding assay
D. Hemoglobin electrophoresis
E. Serum iron, folate and VB12 tests
F. Serum lead test
12. A 4-year-old girl presents to the clinic with recurrent episodes of jaundice and fatigue. She is otherwise healthy. Her mother had a similar condition during childhood that required splenectomy. Physical examination reveals mild pallor of skin and mucosa. Icteric sclera is noted. Her laboratory studies reveal the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 7% (0.5-2.5%)
Total bilirubin: 3.2 mg/dL (0.3-1.2 mg/dL)
Direct Coombs test: negative
An image of her peripheral blood smear is shown. Additional test reveals reduced Eosin-5-maleimide binding. What is the cause of her peripheral RBC morphology?
(Image credit: Guy Waterval, Apache License 2.0 <http://www.apache.org/licenses/LICENSE-2.0>, via Wikimedia Commons)
B. Membrane instability
C. Oxidative damage
D. Polymerization of hemoglobin
E. Uninhibited complement activity
13. A 4-year-old girl presents to the clinic with recurrent episodes of jaundice and fatigue. She is otherwise healthy. Her mother had a similar condition during childhood that required splenectomy. Physical examination reveals mild pallor of skin and mucosa. Icteric sclera is noted. Her laboratory studies reveal the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 7% (0.5-2.5%)
Total bilirubin: 3.2 mg/dL (0.3-1.2 mg/dL)
Direct Coombs test: negative
An image of her peripheral blood smear is shown. Additional test reveals reduced Eosin-5-maleimide binding. What is the cause of her elevated serum bilirubin?
(Image credit: Guy Waterval, Apache License 2.0 <http://www.apache.org/licenses/LICENSE-2.0>, via Wikimedia Commons)
B. Biliary tract obstruction
C. Extravascular hemolysis
D. Liver disease
E. Splenic tumor
14. A 4-year-old girl presents to the clinic with recurrent episodes of jaundice and fatigue. She is otherwise healthy. Her mother had a similar condition during childhood that required splenectomy. Physical examination reveals mild pallor of skin and mucosa. Icteric sclera is noted. Her laboratory studies reveal the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 7% (0.5-2.5%)
Total bilirubin: 3.2 mg/dL (0.3-1.2 mg/dL)
Direct Coombs test: negative
An image of her peripheral blood smear is shown. Additional test reveals reduced Eosin-5-maleimide binding. What gene mutation is likely seen?
(Image credit: Guy Waterval, Apache License 2.0 <http://www.apache.org/licenses/LICENSE-2.0>, via Wikimedia Commons)
B. G-6-PD
C. PIGA
D. PKLR
E. SPTA1
15. A 4-year-old girl presents to the clinic with recurrent episodes of jaundice and fatigue. She is otherwise healthy. Her mother had a similar condition during childhood that required splenectomy. Physical examination reveals mild pallor of skin and mucosa. Icteric sclera is noted. Her laboratory studies reveal the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 7% (0.5-2.5%)
Total bilirubin: 3.2 mg/dL (0.3-1.2 mg/dL)
Direct Coombs test: negative
An image of her peripheral blood smear is shown. Additional test reveals reduced Eosin-5-maleimide binding. What is the diagnosis?
(Image credit: Guy Waterval, Apache License 2.0 <http://www.apache.org/licenses/LICENSE-2.0>, via Wikimedia Commons)
B. Hereditary spherocytosis
C. Paroxysmal nocturnal hemoglobinuria
D. Pyruvate kinase deficiency
E. Warm antibody autoimmune hemolytic anemia
16. Use this case for the next six questions. A 35-year-old man presents to the clinic with dark-colored urine in the mornings for a few months. The color of his urine tends to be more normal later in the day. He also reports recurrent headache, abdominal pain and fatigue over the past few months. Physical examination reveals pallor of skin and mucosa. Icteric sclera is noted. His spleen is palpated approximately 2 cm below left costal margin. Laboratory tests show the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 0.5% (0.5-2.5%)
White blood cell count: 4,000/µL (5,000-14,500/µL)
Platelet count: 100,000/µL (150,000-450,000/µL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
Direct Coombs test: negative
Peripheral blood smear reveals no significant morphological abnormalities in three lineages. What test is needed to confirm the diagnosis?
B. Eosin-5-maleimide binding assay
C. Flow-cytometry for RBC bound CD55 and CD59
D. Hemoglobin electrophoresis
E. Molecular test for PKLR mutation
F. Parovirus B19 test
17. A 35-year-old man presents to the clinic with dark-colored urine in the mornings for a few months. The color of his urine tends to be more normal later in the day. He also reports recurrent headache, abdominal pain and fatigue over the past few months. Physical examination reveals pallor of skin and mucosa. Icteric sclera is noted. His spleen is palpated approximately 2 cm below left costal margin. Laboratory tests show the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 0.5% (0.5-2.5%)
White blood cell count: 4,000/µL (5,000-14,500/µL)
Platelet count: 100,000/µL (150,000-450,000/µL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
Direct Coombs test: negative
Peripheral blood smear reveals no significant morphological abnormalities in three lineages. Flow-cytometry studies reveal marked reduced RBC surface CD55 and CD59. What gene is likely mutated?
B. GATA-1
C. PIGA
D. PKLR
E. RPS19
F. SPTA1
18. A 35-year-old man presents to the clinic with dark-colored urine in the mornings for a few months. The color of his urine tends to be more normal later in the day. He also reports recurrent headache, abdominal pain and fatigue over the past few months. Physical examination reveals pallor of skin and mucosa. Icteric sclera is noted. His spleen is palpated approximately 2 cm below left costal margin. Laboratory tests show the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 0.5% (0.5-2.5%)
White blood cell count: 4,000/µL (5,000-14,500/µL)
Platelet count: 100,000/µL (150,000-450,000/µL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
Direct Coombs test: negative
Peripheral blood smear reveals no significant morphological abnormalities in three lineages. Flow-cytometry studies reveal marked reduced RBC surface CD55 and CD59. What is the cause of his high bilirubin?
B. Membrane instability
C. Oxidative damage
D. Polymerization of hemoglobin
E. Uninhibited complement activity
19. A 35-year-old man presents to the clinic with dark-colored urine in the mornings for a few months. The color of his urine tends to be more normal later in the day. He also reports recurrent headache, abdominal pain and fatigue over the past few months. Physical examination reveals pallor of skin and mucosa. Icteric sclera is noted. His spleen is palpated approximately 2 cm below left costal margin. Laboratory tests show the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 0.5% (0.5-2.5%)
White blood cell count: 4,000/µL (5,000-14,500/µL)
Platelet count: 100,000/µL (150,000-450,000/µL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
Direct Coombs test: negative
Peripheral blood smear reveals no significant morphological abnormalities in three lineages. Flow-cytometry studies reveal marked reduced RBC surface CD55 and CD59. What is the cause of his low reticulocyte, WBC and platelet count?
B. Erythroid maturation arrest
C. Hemoglobin beta gene deletion
D. Hematopoietic stem cell injury
E. Myelofibrosis
20. A 35-year-old man presents to the clinic with dark-colored urine in the mornings for a few months. The color of his urine tends to be more normal later in the day. He also reports recurrent headache, abdominal pain and fatigue over the past few months. Physical examination reveals pallor of skin and mucosa. Icteric sclera is noted. His spleen is palpated approximately 2 cm below left costal margin. Laboratory tests show the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 0.5% (0.5-2.5%)
White blood cell count: 4,000/µL (5,000-14,500/µL)
Platelet count: 100,000/µL (150,000-450,000/µL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
Direct Coombs test: negative
Peripheral blood smear reveals no significant morphological abnormalities in three lineages. Flow-cytometry studies reveal marked reduced RBC surface CD55 and CD59. What is the cause of his headache and abdominal pain?
B. RBC aggregates
C. Smooth muscle dystonias
D. Tissue hypoxia
E. Viral infection
21. A 35-year-old man presents to the clinic with dark-colored urine in the mornings for a few months. The color of his urine tends to be more normal later in the day. He also reports recurrent headache, abdominal pain and fatigue over the past few months. Physical examination reveals pallor of skin and mucosa. Icteric sclera is noted. His spleen is palpated approximately 2 cm below left costal margin. Laboratory tests show the following:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 0.5% (0.5-2.5%)
White blood cell count: 4,000/µL (5,000-14,500/µL)
Platelet count: 100,000/µL (150,000-450,000/µL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
Direct Coombs test: negative
Peripheral blood smear reveals no significant morphological abnormalities in three lineages. Flow-cytometry studies reveal marked reduced RBC surface CD55 and CD59. What is the diagnosis?
B. G-6-PD deficiency
C. Hereditary spherocytosis
D. Paroxysmal nocturnal hemoglobinuria
E. Pyruvate kinase deficiency
F. Warm antibody autoimmune hemolytic anemia
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