Presented by:

Shahad Alquraini Case Study

Mashael Almutairi For CLAB - 418
 Clinical History

Clinical Investigations

Outline Discussion

Summary

References
• Patient
• Chief complaint
• Other complaint
• History of Clinical History
present illness
• Medical history
 Patient
37-year-old man of half African and
Italian ethnicity.

https://europepmc.org/abstract/med/26404776
 Chief Complaint
Pain in lower back that radiated to both
thighs. He told the physician that he
fell while hiking a mountain in Italy a
week ago.

https://europepmc.org/abstract/med/26404776
 Other Compliant
• Fatigue
• Headache
• Dizziness
• Medical records reported several
infections in the past year.

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History of present Illness
• Unremarkable

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 Medical History
• Former smoker
• Denied alcohol consumption and
drug abuse

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• X-Ray
• ECG
• Laboratory
Clinical
investigations Investigations
 Physical Investigation
Physician requested X-Ray for his
lower back and thighs

Normal Normal
https://www.medicalnewstoday.com/articles/219970.php
 Discharged
• Physician prescribed Oxycodone for the
pain

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 One Month Later
• Patient came back with more
complications:
o Fever
o Bone pain
o Sever fatigue with dizziness
o Headache
o Jaundice
o Weigh loss
o Palpation

https://europepmc.org/abstract/med/26404776
 Electrocardiogram
• Physician requested ECG
• Heart murmurs

Abnormal
https://www.acc.org/education-and-meetings/patient-case-quizzes/a-changing-heart-murmur
 Laboratory Investigations:
Hematology complete blood count

Cell Type Cell Count Reference

Range
WBC 9.4 x 103/ul 4.0-10.5 x 103/ul
RBC 2.9 x 106/ul 4.7-6.0 x 103/ul
WBC White blood
cells Hg 5.7 g/dl 13.5-18.0 g/dl
RBC Red blood
cells Hematocrit 17.6 % 42-52 %
Hg Hemoglobin PLT 519 x 103/ul 150-450 103/ul
PLT Platelets
MCV Mean cell
MCV 60.7 fl 78-100 fl
volume
MCHC Mean
MCH 19.7 pg 27-31 pg
MCHC Mean cell MCHC 32.4 g/dl 32-36 g/dl
hemoglobin
concentratio
n
nRBC 319 0-1
nRBC Nucleated
RBC

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Laboratory Investigations:
Differential blood smear
Condition/Cell type Degree of Present
Anisocytosis Marked
Poikilocytosis Moderate
Microcytes Marked
Macrocytes Moderate
Polychromia Slight
Hypochromia Moderate
Target cells Moderate
Howell-Jolly bodies Present
Sickle cells Moderate

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Peripheral Blood Smear

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Discussion
Q1: What is the initial
diagnosis?

Anemia of Microcytic, hypochromic

Q2: What is the most
striking about these
results?

Nucleated red blood cells (nRBC)

Q3: What is the clinical
significance of high
nRBC?

Bone marrow hyperactivity, due to

RBC compensation.
Q4: Based on previous
results, what is the
diagnosis?

• Sickle cell Anemia

• Beta Thalassemia
 Beta Thalassemia
• MVC: 60.7 fl
• nRBC: 319
• Hg: 5.7
• The diagnosis of β-thalassemia relies on
measuring red blood cell indices that
reveal microcytic hypochromic anemia,
nucleated red blood cells on peripheral
blood smear.

R, O. (2019). Beta-Thalassemia - PubMed - NCBI. [online] Ncbi.nlm.nih.gov. Available at:

https://www.ncbi.nlm.nih.gov/pubmed/20301599 [Accessed 4 Feb. 2019].
 Sickle Cell Anemia
• RBC: 2.9 x 106/ul

Target cell

Sickle cell

https://ghr.nlm.nih.gov/condition/beta-thalassemia#genes
Q5: What is the test used
to differentiate between
sickle cell anemia and
thalassemia?
Electrophoresis
 Electrophoresis
for sickle cell, beta thalassemia and our
patient.
Hemoglobin Sickle cell Our Beta Sickle
% Anemia Patient Thalasse Beta Zero
mia Thalasse
mia
A2 2%-4.5% 6.80% 3.5%-7% 4-6%

F 1%-20% 1.90% 10%-89% 5-20%

A 0% 0% 0% 0%

S 80% 91.3% 0% 75-90%

https://europepmc.org/abstract/med/26404776
 Diagnosis

The most likely diagnosis for our patient is

sickle beta zero thalassemia. Genetics
consulting is suggested to confirm the
diagnosis.

https://europepmc.org/abstract/med/26404776
• Mechanism
• Symptoms
• Transmission
• Laboratory
tests
• Epidemiology
Summary
• Treatment
S/ß0 Thalassemia: mechanism
S/ß0Thalassemia

Sickle cell Anemia Beta Thalassemia

Glutamic acid
converted to Valine in Defective B globin
6th position of beta synthesis
chain on the RBC

https://ghr.nlm.nih.gov/condition/beta-thalassemia#genes & https://europepmc.org/abstract/med/26404776

 S/ß0 Thalassemia:
Symptoms:
• Episodes of pain
• Heart murmurs
• Jaundice
• Repeated infections
• Erythrocytopenia
• Pulmonary hypertension
•

https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia
 S/ß0 Thalassemia:
Transmission

• Genetic mutation on Chromosome 11

• Autosomal recessive disorder

https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia
 S/ß0 Thalassemia:
inheritance patterns
SC B Thal

Unaffected

Affected
Carrier

Unaffected B Thal SC S/B0 Thal

25% 25% 25% 25%

https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia
 Supporting laboratory
tests
• Chromosome 16 has sickle cell and beta
thalassemia mutations
• Hemoglobin: low
• MCV: low
• RBCs count: low
• Sickle cells
• Hematocrit: low
 Epidemiology
• Both parent were carrier of sickle cell anemia and beta
thalassemia = patient inherited both genes = microcytic
hypochromic RBCs with sickle cells

Silmi et al. Available :https://slideplayer.com/slide/7011676/

 S/ß0 Thalassemia :
treatment
• Bone marrow transplantation
• Gene therapy
• Supportive care:
o Blood transfusion

https://europepmc.org/abstract/med/26404776
References
 References
1. Fanestil V, Van CS. Differentiation Between Sickle Cell Anemia and S/β⁰
Thalassemia. Laboratory medicine. 2015;46(3):e79-81.
2. Tim Newman. Medical News Today. Available:
https://www.medicalnewstoday.com/articles/219970.php
3. American college of Cardiology. Feb 02, 2016. Available: https
://www.acc.org/education-and-meetings/patient-case-quizzes/a-changing-heart-
murmur
4. R, O. (2019). Beta-Thalassemia - PubMed - NCBI. [online] Ncbi.nlm.nih.gov. Available
at: https://www.ncbi.nlm.nih.gov/pubmed/20301599 [Accessed 4 Feb. 2019].
5. Genetics Home Reference. Available:
https://ghr.nlm.nih.gov/condition/beta-thalassemia#genes
6. National Center for Biotechnology Information (US). Genes and Disease. Available:
https://www.ncbi.nlm.nih.gov/books/NBK22200/
7. National center for Advancing Translational Sciences. Available:
https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia
8. Silmi et al. https://slideplayer.com/slide/7011676/