Tests for the diagnosis of anemia - Case Studies ANSWERS
History
The patient was a 30 year old male who stated that he had always been in good health.
Several years ago at a routine check-up, he was told that he had a mild form of "anemia." He
was recently denied insurance coverage after indicating this condition on an application
form. The patient is now seeking clarification of his anemia and its impact on his insurability.
Physical Exam
Within normal limits: no significant findings.
CBC & Differential
RBC
HGB
HCT
MCV
MCH
MCHC
RDW
6.22 x 1012/L
121 g/L
0.38 L/L
62 fL
19 pg
316 g/L
15.4 g/L
WBC
N
L
M
E
B
7.1 x109/L
.55
.33
.10
.01
.01
PLT
204 x 109//L
Questions:
1.
What further laboratory studies, if any, are indicated?
 Manual Blood Smear
 Hemoglobin electrophoresis
2.
What are the expected results?
 Manual Blood Smear:
Microcytic, normochromic
Some targets (1+)
Basophilic stippling present
WBC morphology normal
Platelet morphology normal
 Hemoglobin electrophoresis
3.
Hemoglobin A
92.7%
Hemoglobin A2
6.6%
Hemoglobin F
0.7%
What is the most likely diagnosis?
Beta Thalassemia trait
4.
What are the expected results?
Tests for the diagnosis of anemia - Case Studies
History
A 23 year old male presented at the Emergency Room. Blood samples were drawn and
transported to the acute care laboratory for stat analysis. No information on the patient’s
condition or the reason for the ER admission was provided.
CBC & Differential
RBC
HGB
HCT
MCV
MCH
MCHC
5.69 x 1012/L
155 g/L
0.45 L/L
80 fL
27 pg
344 g/L
WBC
N
L
M
E
B
12.4 x 109/L
.70
.23
.07
.00
.00
PLT
184 x 109/L
Questions:
1. What morphologic alterations are seen in this blood smear field?
Normocytic, normochromic
Many microspherocytes (3+)
Many fragments (3+)
Some targets (1+)
WBC Morphology: reactive neutrophils with Dohle bodies present
Platelet morphology normal
2. What is the most likely diagnosis?
Acute hemolysis due to severe burns
3. What further laboratory studies, if any, are indicated?
4. What are the expected results?
Sodium
decreased
Potassium
normal
Chloride
normal
Bicarbonate
normal
BUN normal
Creatinine
increased
Serum was grossly hemolyzed.
Urinalysis:
Blood 3+
Protein 3+
The patient had been severely burned in a fire at his residence. He suffered 50% total
burns with 35% third degree burns. He was immediately transferred to a specialized burn
unit, but did not survive.
Tests for the diagnosis of anemia - Case Studies
History
A 70 year old female patient visited her doctor complaining of shortness of breath on
exertion, easy fatigability, and lassitude for past 2 to 3 months. The patient denied having
bloody urine, gastrointestinal or vaginal bleeding. She claimed that her diet was good, but her
appetite varied.
Physical Exam:
Other than pallor, no significant physical findings were noted. Occult blood was negative.
CBC & Differential
RBC
HGB
HCT
MCV
MCH
MCHC
RDW
3.71 x 1012/L
59 g/L
0.21 L/L
56 fL
16 pg
283 g/L
20.2 g/L
WBC
N
L
M
E
B
5.9 x 109/L
.82
.13
.01
.04
.00
PLT
383 x 109/L
Questions:
1.
What morphologic alterations are seen in this blood smear field?
Results of the blood smear exam were:
Microcytic (marked – 3+), hypochromic (moderate – 2+)
Moderate anisocytosis – 2+
Some pencil cells and targets – 2+
Occasional tear drops and fragments
2.
What is the most likely diagnosis?
Iron deficiency Anemia
3.
4.
What further laboratory studies, if any, are indicated?
What are the expected results?
Serum ferritin
decreased
Serum iron
decreased
TIBC
increased
%Saturation (transferrin)
decreased
Tests for the diagnosis of anemia - Case Studies
History
The patient is a 34 year old male seen in the emergency room for treatment of superficial
skin wounds resulting from a shotgun accident. He claimed that this happened while goose
hunting. The patient had had his gall bladder removed five years prior to admission. At that
time, he was told that he had Gilbert’s syndrome. He stated that he had always had “low
blood”, and that his father and parental grandfather both had “liver ailments”.
Physical Exam:
He was somewhat pale with yellowish skin (slight pallor and jaundice). He also had
scattered small surface wounds – mostly over his face, scalp and upper extremities. His
spleen was palpable 3 cm below the left costal margin.
CBC & Differential
RBC
HGB
HCT
MCV
MCH
MCHC
RDW
3.93 x 1012/L
113 g/L
0.33 L/L
84 fL
29 pg
344 g/L
18.7 g/L
WBC
5.0 x 109/L
N
L
M
E
B
PLT
.53
.31
.08
.06
.02
362 x 109/L
Questions:
1. What morphologic alterations are seen in this blood smear field?
Normocytic, normochromic
Moderate anisocytosis - 2+
Increased polychromasia – 2+
Some spherocytes – 2+
Occasional burr cells – 1+
WBC morphology normal
Platelet morphology normal
2. What is the most likely diagnosis?
Hereditary Spherocytosis
3. What further laboratory studies, if any, are indicated?
4. What are the expected results?
Reticulocyte count
14.3%
Absolute reticulocyte count
562 X 109/L
Osmotic Fragility :
Initial hemolysis
0.65% NaCL
Complete hemolyis
0.40% NaCL
Control:
Initial hemolysis
0.45% NaCL
Complete hemolysis 0.30% NaCL
Bilirubin:
Direct bilirubin
slightly increased
Total bilirubin
increased
The patient was referred to a hematologist to evaluate the possibility of a splenectomy
Tests for the diagnosis of anemia - Case Studies
History
A 33 year old female immigrated to the United States from Laos four years prior to
admission. Her history was obtained through an interpreter. She’s had multiple transfusions
and splenectomy two years prior to admission. She doesn’t understand why she had this
surgery. She is complaining of flu-like symptoms and general malaise. She has a fever,
heartburn and a nonproductive cough.
CBC & Differential
RBC
HGB
HCT
MCV
MCH
MCHC
RDW
4.15 x 1012/L
81 g/L
0.29 L/L
69 fL
20 pg
282 g/L
22.3 g/L
PLT
540 x 109/L
WBC (corrected) 8.0 x 109/L
N
.51
L
.36
M
.07
E
.04
B
.02
83 NRBC/100 WBC
Questions:
1. What morphologic alterations are seen in this blood smear field?
Results of the blood smear exam were:
Microcytic (moderate), hypochromic (marked – 3+)
Moderate anisocytosis – 2+
Increased polychromasia – 1+
Marked target cells – 3+
Occassional sphereocytes, fragments and Howell-Jolly bodies
2. What is the most likely diagnosis?
Hemoglobinopathy or Thalassemia
3. What further laboratory studies, if any, are indicated?
4. What are the expected results?
Hemoglobin electrophoresis
Hemoglobin E
80%
Hemoglobin F
5%
Other hemoglobins*
15%
*Identified as hemoglobin A2, hemoglobin Bart’s and a hemoglobin H
mutant
Serum ferritin
markedly increased
Serum iron
normal
TIBC
decreased
%Saturation
Increased
Confirmed diagnosis – Homozygous hemoglobin E disease and alpha thalassemia. The patient’s flulike symptoms subsided; they were presumed to be viral in origin. She was referred to the
Hematology Clinic and placed on iron chelation therapy. After 18 months, her serum ferritin had
fallen to just slightly above normal. Her hemoglobin remained in the 70-90 g/L range. Chelation was
discontinued, with plans to monitor the ferritin level every six months and resume treatment when
needed.
Tests for the diagnosis of anemia - Case Studies
History
This patient has a lifelong history of a seizure disorder, and has been receiving treatment
since the age of two. At a routine check up with his neurologist, he complained of fatigue and
lightheadedness upon exertion over the past 2-3 months. He appeared pale, but otherwise his
physical exam was within normal limits. A CBC was ordered and he was found to have
decreased hemoglobin. He was referred to the Hematology Clinic for a consultation.
CBC & Differential
Peripheral Blood
RBC
HGB
HCT
MCV
MCH
MCHC
RDW
1.26 x 1012/L
57 g/L
0.16 L/L
130 fL
45 pg
349 g/L
18.1 g/L
WBC
N
L
M
E
B
3.2 x 109/L
.73
.21
.01
.04
.01
PLT
219 x 109/L
Bone Marrow
History:
37 year old male.
Lifelong history of a seizure disorder, treated since age two.
At a routine check with his neurologist, he complained of fatigue, exertional dyspnea, and
lightheadedness over the past 2-3 months.
He appeared pale, but otherwise his physical exam was within normal limits. He was found
to have a decreased hemoglobin, and was referred to Hematology Clinic.
Questions:
1. What morphologic alterations are seen in this blood smear field?
Results of the blood smear exam were:
Marked oval macrocytes – 3+, normochromic
Marked anisocytosis – 3+
Occasional tear drop cells and fragments
Many neutrophils show nuclear hypersegmentation
Platelet morphology normal
2. What is the most likely diagnosis?
Megaloblastic anemia due to folate deficiency
3. What further laboratory studies, if any, are indicated?
4. What are the expected results?
Serum folate
decreased
RBC folate
decreased
Bone Marrow Biopsy:
Aspirate: Erythroid hyperplasia with megaloblastic maturation. Large polychromatic and
orthochromatic megaloblasts show nuclear karyorrhexis and other dyserythropoietic changes.
Multiple Howell Jolly bodies are seen in both megaloblasts and oval macrocytes.
Neutrophils show premature nuclear segmentation, with metamyelocytes and band forms.
Biopsy: Appears hypercellular
The patient was given large doses of folic acid, and within 6 days his reticulocyte count was
15.2%. One month later, his hemoglobin was 127 g/L, MCV was 92 fL, and his blood smear
morphology was normal.
The anticonvulsant drug he had been taking is known to interfere with folate metabolism. In
addition, the patient had been trying to lose weight, and over the past few months his diet had
consisted mainly of TV dinners, with little or no fresh vegetables or fruits. A nutritional
consult was arranged, and he was instructed to add folic acid to his daily medications.
Note: Patients with folic acid deficiency occasionally show decreased levels of vitamin B12.
Because of the patient’s history and lack of typical neurologic symptoms, concurrent
pernicious anemia was considered very unlikely.
Tests for the diagnosis of anemia - Case Studies
History
A 8 month old baby boy was brought to emergency room by his mother. The baby was in
good health until 24 hours prior to admission, when his parents noted fever, progressive
lethargy, and dark red urine. His mother had experienced a normal pregnancy and an
uncomplicated delivery. His diet had consisted mainly of breast milk and formula, with
some fruits and vegetables added recently. His parents are both Egyptian, and there is no
family history of anemia, jaundice, gallstones, or splenectomy.
Physical Exam:
The baby appeared pale, lethargic, and had jaundiced skin. He had moderate splenomegaly
and hepatomegaly. His temperature was 102 F.
CBC & Differential
RBC
HGB
HCT
MCV
MCH
MCHC
1.28 x10 12/L
45 g/L
0.11 L/L
89 fL
35 pg
394 g/L
PLT
425 x 109/L
WBC
N seg
N myelo
L
M
E
B
27.8 x 109/L
.65
.01
.31
.03
.00
.00
2 NRBC/100 WBC
Questions:
1. What morphologic alterations are seen in this blood smear field?
Results of the blood smear exam were:
Normocytic, normochromic
Increased polychromasia – 2+
Marked irregulary shaped spherocytes – 3+
Some fragments – 2+
Few burr cells – 1+
Many of the spherocytes have a clear “veil” or “blister” of membrane on the edge of
the cell. RBC fragments include helmet and “bite” cell forms.
Relative neutrophils with toxic granulation
Platelet morphology is normal
2. What is the most likely diagnosis?
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
3. What further laboratory studies, if any, are indicated?
4. What are the expected results?
Serum was grossly hemolyzed.
Bilirubin:
Direct
increased
Total
increased
Haptoglobin
decreased
Urinalysis: Urine was grossly red.
Blood 3+
Protein 3+
Biochemical Genetics: RBC enzymes
G6PD levels
Pyruvate kinase levels
decreased
normal
The patient was admitted and transfused with packed RBC’s. On the following day, his
hemoglobin was 107 g/L. His condition stabilized and his hematuria cleared. He recovered
rapidly. Other laboratory parameters returned to normal levels and there was no further
evidence of hemolysis.
Note: G6PD is an enzyme that protects erythrocyte hemoglobin from oxidation and
subsequent denaturation. Individuals with a deficiency of this enzyme are susceptible to
hemolytic episodes following oxidant stress to their red cells. In the Mediterranean type of
G6PD deficiency, acute hemolysis can be initiated by the ingestion of fava beans.
Questioning of the parents disclosed that one of the vegetables that had been added to the
infant’s diet on the day before admission – was fava beans.
The patient was discharged, and the parents were provided with a list of foods, medications,
and other substances that should be avoided by persons with G6PD deficiency.