Practice questions Anemia III
Practice questions
Anemia III
© 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 three questions. A 30-year-old male of Southeast Asian descent presents to the clinic with fatigue and episodes of bone pain. He has had these episodes periodically since childhood, often triggered by infections. Physical examination reveals mild pallor. The non-tender spleen is 1 cm below left costal margin. Laboratory studies are listed below:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 6% (1-2%)
Indirect bilirubin: 0.4 mg/dL (0.2-0.8 mg/dL)
Peripheral blood smear reveals sickle cells and target cells. What test should be performed to confirm the diagnosis?
B. Enzymatic activity of G6PD
C. Eosin-5-maleimide (EMA) binding assay
D. Hemoglobin electrophoresis
E. Osmotic fragility test
2. A 30-year-old male of Southeast Asian descent presents to the clinic with fatigue and episodes of bone pain. He has had these episodes periodically since childhood, often triggered by infections. Physical examination reveals mild pallor. The non-tender spleen is 1 cm below left costal margin. Laboratory studies are listed below:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 6% (1-2%)
Indirect bilirubin: 0.4 mg/dL (0.2-0.8 mg/dL)
Peripheral blood smear reveals sickle cells and target cells. Hemoglobin electrophoresis reveals 0% HbA, 50% HbS, 45% HbE and 5% HbF. What genetic abnormality is most likely seen?
B. Glutamate to lysine substitution at codon 26 of 1 b gene, and Glutamate to valine substitution at codon 6 of the other b gene
C. Glutamate to lysine substitution at codon 26 of 2 b gene
D. Glutamate to Valine substitution at codon 6 of 1 b gene
E. Glutamate to Valine substitution at codon 6 of 2 b gene
3. A 30-year-old male of Southeast Asian descent presents to the clinic with fatigue and episodes of bone pain. He has had these episodes periodically since childhood, often triggered by infections. Physical examination reveals mild pallor. The non-tender spleen is 1 cm below left costal margin. Laboratory studies are listed below:
MCV: 85 fL (80-100 fL)
Reticulocyte count: 6% (1-2%)
Indirect bilirubin: 0.4 mg/dL (0.2-0.8 mg/dL)
Peripheral blood smear reveals sickle cells and target cells. Hemoglobin electrophoresis reveals 0% HbA, 50% HbS, 45% HbE and 5% HbF. What is the diagnosis?
B. Hemoglobin E disease
C. Hemoglobin SC disease
D. Hemoglobin SE disease
E. Sickle cell trait
F. Thalassemia beta minor
4. Use this case for the next four questions. A 28-year-old woman of Southeast Asian descent presents to her primary care physician for a check-up. She does not have any symptoms. Her past medical history is unremarkable. She is currently planning a pregnancy and wants to ensure she is in good health. Physical examination is unremarkable. Laboratory studies show the following:
MCV: 75 fL (80-100 fL)
MCH: 25 pg (27-31 pg)
Reticulocyte count: 1% (0.5-2.5%)
Peripheral blood smear reveals occasional target cells. What test should be performed next?
B. Enzymatic activity of G6PD
C. Eosin-5-maleimide (EMA) binding assay
D. Hemoglobin electrophoresis
E. Osmotic fragility test
5. A 28-year-old woman of Southeast Asian descent presents to her primary care physician for a check-up. She does not have any symptoms. Her past medical history is unremarkable. She is currently planning a pregnancy and wants to ensure she is in good health. Physical examination is unremarkable. Laboratory studies show the following:
MCV: 75 fL (80-100 fL)
MCH: 25 pg (27-31 pg)
Reticulocyte count: 1% (0.5-2.5%)
Peripheral blood smear reveals occasional target cells. Hemoglobin electrophoresis reveals 97% HbA, 2.5% HbA2, and 0.5% HbF. What test should be performed next to confirm the diagnosis?
B. DNA analysis for gene copy numbers
C. Enzymatic activity of G6PD
D. Eosin-5-maleimide (EMA) binding assay
E. Osmotic fragility test
6. A 28-year-old woman of Southeast Asian descent presents to her primary care physician for a check-up. She does not have any symptoms. Her past medical history is unremarkable. She is currently planning a pregnancy and wants to ensure she is in good health. Physical examination is unremarkable. Laboratory studies show the following:
MCV: 75 fL (80-100 fL)
MCH: 25 pg (27-31 pg)
Reticulocyte count: 1% (0.5-2.5%)
Peripheral blood smear reveals occasional target cells. Hemoglobin electrophoresis reveals 97% HbA, 2.5% HbA2, and 0.5% HbF. What is the most likely genetic abnormality?
B. Deletion of 2 a gene
C. Deletion of 1 b gene
D. Glutamate to lysine substitution at codon 6 of 1 b gene
E. Glutamate to lysine substitution at codon 26 of 1 b gene
F. Glutamate to Valine substitution at codon 6 of 2 b gene
7. A 28-year-old woman of Southeast Asian descent presents to her primary care physician for a check-up. She does not have any symptoms. Her past medical history is unremarkable. She is currently planning a pregnancy and wants to ensure she is in good health. Physical examination is unremarkable. Laboratory studies show the following:
MCV: 75 fL (80-100 fL)
MCH: 25 pg (27-31 pg)
Reticulocyte count: 1% (0.5-2.5%)
Peripheral blood smear reveals occasional target cells. Hemoglobin electrophoresis reveals 97% HbA, 2.5% HbA2, and 0.5% HbF. DNA analysis reveals deletion of 1 a chain. What is the diagnosis?
B. A thalassemia trait
C. B thalassemia minor
D. B thalassemia major
E. Homozygous hemoglobin E disease
F. Hemoglobin H disease
8. Use this case for the next three questions. A 20-year-old woman presents to her primary care physician for regular check up. She has no significant past medical history and reports feeling well overall. Her family history is notable for anemia in her mother and brother. She is not on any medications. Physical examination is unremarkable. Her CBC results are listed below.
Hemoglobin: 11.8 g/dL (12-16 g/dL)
MCV: 70 fL (80-100 fL)
RDW: 12% (11.5-14.5%)
Her iron studies, LDH and bilirubin are within normal range. Hemoglobin electrophoresis shows a normal pattern. What test need to be performed to confirm the diagnosis?
B. DNA analysis for gene copy numbers
C. Enzymatic activity of G6PD
D. Eosin-5-maleimide (EMA) binding assay
E. Osmotic fragility test
9. A 20-year-old woman presents to her primary care physician for regular check up. She has no significant past medical history and reports feeling well overall. Her family history is notable for anemia in her mother and brother. She is not on any medications. Physical examination is unremarkable. Her CBC results are listed below.
Hemoglobin: 11.8 g/dL (12-16 g/dL)
MCV: 70 fL (80-100 fL)
RDW: 12% (11.5-14.5%)
Her iron studies, LDH and bilirubin are within normal range. Hemoglobin electrophoresis shows a normal pattern. What is likely the genetic abnormalities?
B. Deletion of 2 a gene
C. Deletion of 1 b gene
D. Glutamate to lysine substitution at codon 6 of 1 b gene
E. Glutamate to lysine substitution at codon 26 of 1 b gene
F. Glutamate to Valine substitution at codon 6 of 2 b gene
10. A 20-year-old woman presents to her primary care physician for regular check up. She has no significant past medical history and reports feeling well overall. Her family history is notable for anemia in her mother and brother. She is not on any medications. Physical examination is unremarkable. Her CBC results are listed below.
Red blood cell count: 5.5 million cells/µL (4.2-5.4 million
cells/µL)
Hemoglobin: 11.8 g/dL (12-16 g/dL)
MCV: 70 fL (80-100 fL)
RDW: 12% (11.5-14.5%)
Her iron studies, LDH and bilirubin are within normal range. Hemoglobin electrophoresis shows a normal pattern. What is the most likely diagnosis?
B. B thalassemia trait
C. Hemolytic anemia
D. Iron deficiency anemia
E. Sickle cell trait
11. Use this case for the next four questions. A 6-month-old boy of Southeast Asian descent is brought to the pediatrician by his parents due to concerns about his pallor and irritability. Physical examination reveals pallor of skin and mucosa, a slightly protuberant abdomen, and hepatosplenomegaly. His laboratory test results are listed below.
MCV: 65 fL (80-100 fL)
Reticulocyte count: 2% (0.5-2.5%)
Indirect bilirubin: 1.1 mg/dL (normal: 0.2-0.8 mg/dL)
An image of his peripheral blood smear is shown. New methylene blue stain reveals many dark purple intracellular materials.
(Image credit: SpicyMilkBoy, CC BY-SA 4.0 <https://creativecommons.org/licenses/by-sa/4.0>, via Wikimedia Commons)
What test should be performed next?
B. Enzymatic activity of G6PD
C. Eosin-5-maleimide (EMA) binding assay
D. Hemoglobin electrophoresis
E. Osmotic fragility test
12. A 6-month-old boy of Southeast Asian descent is brought to the pediatrician by his parents due to concerns about his pallor and irritability. Physical examination reveals pallor of skin and mucosa, a slightly protuberant abdomen, and hepatosplenomegaly. His laboratory test results are listed below.
MCV: 65 fL (80-100 fL)
Reticulocyte count: 2% (0.5-2.5%)
Indirect bilirubin: 1.1 mg/dL (0.2-0.8 mg/dL)
An image of his peripheral blood smear is shown. New methylene blue stain reveals many dark purple intracellular materials.
(Image credit: SpicyMilkBoy, CC BY-SA 4.0 <https://creativecommons.org/licenses/by-sa/4.0>, via Wikimedia Commons)
Hemoglobin electrophoresis reveals 50% HbA, 35%HbH, and 10% Hb Bart, and 5% HbF. What test should be performed next to confirm the diagnosis?
B. DNA analysis for gene copy numbers
C. Enzymatic activity of G6PD
D. Eosin-5-maleimide (EMA) binding assay
E. Flow cytometry for RBC bound CD55 and CD59
13. A 6-month-old boy of Southeast Asian descent is brought to the pediatrician by his parents due to concerns about his pallor and irritability. Physical examination reveals pallor of skin and mucosa, a slightly protuberant abdomen, and hepatosplenomegaly. His laboratory test results are listed below.
MCV: 65 fL (80-100 fL)
Reticulocyte count: 2% (0.5-2.5%)
Indirect bilirubin: 1.1 mg/dL (0.2-0.8 mg/dL)
An image of his peripheral blood smear is shown. New methylene blue stain reveals many dark purple intracellular materials.
(Image credit: SpicyMilkBoy, CC BY-SA 4.0 <https://creativecommons.org/licenses/by-sa/4.0>, via Wikimedia Commons)
Hemoglobin electrophoresis reveals 50% HbA, 35%HbH, and 10% Hb Bart, and 5% HbF. What is likely the genetic abnormalities?
B. Deletion of 2 a gene
C. Deletion of 3 a gene
D. Deletion of 4 a gene
E. Deletion of 1 b gene
14. A 6-month-old boy of Southeast Asian descent is brought to the pediatrician by his parents due to concerns about his pallor and irritability. Physical examination reveals pallor of skin and mucosa, a slightly protuberant abdomen, and hepatosplenomegaly. His laboratory test results are listed below.
Hemoglobin: 7 g/dL (14.7–18.6 g/dL)MCV: 65 fL (80-100 fL)
Reticulocyte count: 2% (0.5-2.5%)
Indirect bilirubin: 1.1 mg/dL (0.2-0.8 mg/dL)
An image of his peripheral blood smear is shown. New methylene blue stain reveals many dark purple intracellular materials.
(Image credit: SpicyMilkBoy, CC BY-SA 4.0 <https://creativecommons.org/licenses/by-sa/4.0>, via Wikimedia Commons)
Hemoglobin electrophoresis reveals 50% HbA, 35%HbH, and 10% Hb Bart, and 5% HbF. Genetic test reveals deletion of 3 a gene. What is the diagnosis?
B. B thalassemia trait
C. B thalassemia intermediate
D. Hemoglobin H disease
E. Hemoglobin Bart
15. Use this case for the next three questions. A 28-year-old G1P0 woman presents to the emergency department with severe abdominal pain. She is at her 24th week of pregnancy. Both she and her husband are from southeast Asia. Her blood type is Rh+ AB, and her husband is Rh- B. Sonographic exam reveals severe fetal hydrops with pleural effusions, ascites, and generalized skin edema and cardiomegaly. The patient has had regular prenatal care, and previous ultrasounds did not show any abnormalities. Her CBC results are within normal ranges, but her husband has microcytic anemia. Hemoglobin electrophoresis results for both her and her husband are normal. What test needs to be performed next?
B. Direct antiglobulin test
C. Gene copy analysis for both parents
D. IgM level for mother
16. A 28-year-old G1P0 woman presents to the emergency department with severe abdominal pain. She is at her 24th week of pregnancy. Both she and her husband are from southeast Asia. Her blood type is Rh+ AB, and her husband is Rh- B. Sonographic exam reveals severe fetal hydrops with pleural effusions, ascites, and generalized skin edema and cardiomegaly. The patient has had regular prenatal care, and previous ultrasounds did not show any abnormalities. Her CBC results are within normal ranges, but her husband has microcytic anemia. Hemoglobin electrophoresis results for both her and her husband are normal. Genetic test reveals cis deletion of 2 a globin genes in both parents. What is most likely the cause of fetal changes?
B. Fetal tissue anoxia
C. Immune destruction of fetal RBCs
D. Iron deficiency for fetus
E. Karyotype abnormalities
17. A 28-year-old G1P0 woman presents to the emergency department with severe abdominal pain. She is at her 24th week of pregnancy. Both she and her husband are from southeast Asia. Her blood type is Rh+ AB, and her husband is Rh- B. Sonographic exam reveals severe fetal hydrops with pleural effusions, ascites, and generalized skin edema and cardiomegaly. The patient has had regular prenatal care, and previous ultrasounds did not show any abnormalities. Her CBC results are within normal ranges, but her husband has microcytic anemia. Hemoglobin electrophoresis results for both her and her husband are normal. Genetic test reveals cis deletion of 2 a globin genes in both parents. What is the diagnosis for both parents and fetus?
B. A thalassemia trait for both parents and fetus
C. A thalassemia trait for both parents and hemoglobin Bart for fetus
D. B thalassemia trait for both parents and fetus
E. B thalassemia trait for both parents and b thalassemia major for fetus
18. Use this case for the next two questions. A 30-year-old woman of Mediterranean descent presents to the clinic with fatigue for a few months. She does not have weight loss, fever, or night sweats. She has no significant past medical history and takes no medications. Her father and sister have anemia. Physical examination is unremarkable. Her laboratory studies are listed below.
MCV: 72 fL (80-100 fL)
Red blood cell count: 6.0 million cells/µL (4.2-5.4 million cells/µL)
Red cell distribution width (RDW): 13% (11.5-14.5%)
Her iron test results are within normal range. What test should be performed next?
B. Enzymatic activity of G6PD
C. Eosin-5-maleimide (EMA) binding assay
D. Hemoglobin electrophoresis
E. Osmotic fragility test
19. A 30-year-old woman of Mediterranean descent presents to the clinic with fatigue for a few months. She does not have weight loss, fever, or night sweats. She has no significant past medical history and takes no medications. Her father and sister have anemia. Physical examination is unremarkable. Her laboratory studies are listed below.
MCV: 72 fL (80-100 fL)
Red blood cell count: 6.0 million cells/µL (4.2-5.4 million cells/µL)
Red cell distribution width (RDW): 13% (11.5-14.5%)
Her iron test results are within normal range. Hemoglobin electrophoresis reveals 91% HbA (95-98%), 6% HbA2 (2.5-3.5%), and 3% HbF (0-2%). Genetic test reveals normal number of alpha globin genes. What is most likely the diagnosis?
B. A thalassemia trait
C. B thalassemia minor
D. B thalassemia intermediate
E. B thalassemia major
20. Use this case for the next four questions. A 4-year-old boy presents to the clinic with poor growth, fatigue, and recurrent infection. He is about 5th percentile on heights and weight. He has a few family members in paternal side with anemia, some are transfusion dependent. Physical examination reveals pale skin and mucosa, bulging cheekbones, wide and short nose, as well as small lower jaw. His liver is approximately 4 cm below the right costal margin, and spleen 5 cm below left costal margin. Laboratory studies are listed below.
MCV: 60 fL (70-86 fL)
Reticulocyte count: 12% (0.5-2.5%)
Serum ferritin: 700 ng/mL (12-300 ng/mL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
An image of his peripheral blood smear is shown. What test should be performed next?
(Image credit: Guy Waterval, Apache License 2.0 <http://www.apache.org/licenses/LICENSE-2.0>, via Wikimedia Commons)
B. Enzymatic activity of G6PD
C. Hemoglobin electrophoresis
D. Hepatitis panels
E. Renal function tests
21. A 4-year-old boy presents to the clinic with poor growth, fatigue, and recurrent infection. He is about 5th percentile on heights and weight. He has a few family members in paternal side with anemia, some are transfusion dependent. Physical examination reveals pale skin and mucosa, bulging cheekbones, wide and short nose, as well as small lower jaw. His liver is approximately 4 cm below the right costal margin, and spleen 5 cm below left costal margin. Laboratory studies are listed below.
MCV: 60 fL (70-86 fL)
Reticulocyte count: 12% (0.5-2.5%)
Serum ferritin: 700 ng/mL (12-300 ng/mL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
An image of his peripheral blood smear is shown. What is the cause of his facial appearance?
(Image credit: Guy Waterval, Apache License 2.0 <http://www.apache.org/licenses/LICENSE-2.0>, via Wikimedia Commons)
B. Chronic inflammation
C. Hematopoietic hyperplasia
D. Imbalance of osteoblasts and osteoclasts
E. Parasitic infection
22. A 4-year-old boy presents to the clinic with poor growth, fatigue, and recurrent infection. He is about 5th percentile on heights and weight. He has a few family members in paternal side with anemia, some are transfusion dependent. Physical examination reveals pale skin and mucosa, bulging cheekbones, wide and short nose, as well as small lower jaw. His liver is approximately 4 cm below the right costal margin, and spleen 5 cm below left costal margin. Laboratory studies are listed below.
Hemoglobin: 6.0 g/dL (11-14 g/dL)
MCV: 60 fL (70-86 fL)
Reticulocyte count: 12% (0.5-2.5%)
Serum ferritin: 700 ng/mL (12-300 ng/mL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
An image of his peripheral blood smear is shown. What is the most likely Hb electrophoresis results?
(Image credit: Guy Waterval, Apache License 2.0 <http://www.apache.org/licenses/LICENSE-2.0>, via Wikimedia Commons)
|
Hb (%) |
HbA |
HbA2 |
HbF |
HbS |
HbC |
|
A. |
0 |
2 |
4 |
96 |
0 |
|
B. |
0 |
2 |
4 |
45 |
49 |
|
C. |
0 |
4 |
96 |
0 |
10 |
|
D. |
54 |
4 |
2 |
0 |
40 |
|
E. |
90 |
0 |
10 |
0 |
0 |
|
F. |
96 |
2 |
2 |
0 |
0 |
23. A 4-year-old boy presents to the clinic with poor growth, fatigue, and recurrent infection. He is about 5th percentile on heights and weight. He has a few family members in paternal side with anemia, some are transfusion dependent. Physical examination reveals pale skin and mucosa, bulging cheekbones, wide and short nose, as well as small lower jaw. His liver is approximately 4 cm below the right costal margin, and spleen 5 cm below left costal margin. Laboratory studies are listed below.
MCV: 60 fL (70-86 fL)
Reticulocyte count: 12% (0.5-2.5%)
Serum ferritin: 700 ng/mL (12-300 ng/mL)
Indirect bilirubin: 1.2 mg/dL (0.2-0.8 mg/dL)
An image of his peripheral blood smear is shown. What is the diagnosis?
(Image credit: Guy Waterval, Apache License 2.0
<http://www.apache.org/licenses/LICENSE-2.0>, via Wikimedia Commons)
B. A thalassemia trait
C. B thalassemia minor
D. B thalassemia intermediate
E. B thalassemia major
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