1. Dr. Shaikh Mujeeb Ahmed Assistant Professor AlMaarefa College
CASE STUDIES
IMS 423 BLOCK
Dr. Shaikh Mujeeb Ahmed
Assistant Professor
AlMaarefa College

2. CASE -1
An 18 –year- old female reported to the physician for consultation. She complained of generalized weakness, lethargy and inability to do the routine work from the previous few months.

3. On further questioning she revealed that she was having excessive bleeding during menstruation from the previous six months. She complained of breathlessness and palpitations while climbing stairs for her house. She also had experienced periods of light-headedness, though not to the point of fainting.

4. Other changes she had noticed were cramping in her legs, a desire to crunch on ice, There was no history of any fever, drug intake or abdominal discomfort. Her appetite had also decreased and she was taking meals only once a day.

5. Upon examining, her physician found that she had tachycardia, pale gums and nail beds, and her tongue was swollen. Given her history and the findings on her physical examination, the physician suspected that the patient was anemic and ordered a sample of her blood for examination

6. Red Blood Cell Count -3.5 million/mm3
Hemoglobin (Hb) -7 g/dl
Haemtocrit (Hct)- 30%
Serum Iron – low
Mean Corpuscular Volume (MCV) – low
Mean Corpuscular Hb Concentration (MCHC)- low
Total Iron Binding Capacity in the Blood (TIBC)- high

7. What is the cause of anemia in this patient?

8. Case -2
Adriana is a 7-year-old who lives with her parents in a suburban community. Her parents brought Adriana to the United States from their homeland in Greece when she was 1 year old. At the age of 3, Adriana was in the 10th percentile for height and weight, pale, and her hemoglobin was 5.8 g/dL. Following further diagnostic studies, she was diagnosed with beta-thalassemia major. Over the course of the next 4 years, Adriana was hospitalized every 1–2 months so she could be transfused with packed red blood cells.

9. During a routine follow-up visit at the hematology clinic, Adriana’s laboratory results were as follows:
Hemoglobin: 10 mg/dL
Total serum iron: 150 g/L
The hematologist discusses the planned treatment with Adriana and her parents.

10. Questions
Discuss the significance of Adriana’s family’s geographical background to her diagnosis.
What is beta-thalassemia, its etiology?
Discuss the clinical manifestations of beta-thalassemia.
Discuss the significance of Adriana’s laboratory values.
Discuss the complications associated with the chronic blood transfusions associated with Adriana’s condition.

11. CASE - 3
a 12-year-old boy from Guyana who is referred by his family physician for jaundice, normocytic anemia, and recurrent acute bone pains. 

12. Investigation
Complete blood count (CBC) reveals a hemoglobin of 6.5 g/dL,
MCV 82.3 fL,
platelet count 465,000 /µL,
white blood cell count 9,800 /µL,
reticulocyte count 7 percent, and
bilirubin 84 mg/dL.
Blood film revealed numerous sickle cells. 

13. Sickle solubility test is positive. 
What is the patient’s hemoglobinopathy genotype based on these results? 

14. Two years later, at age 14, the patient presented to the emergency department with acute onset (3 hours) of left hemiparesis. Non-contrast computed tomography of the brain demonstrated an acute right MCA infarct. The patient has no history of thromboembolic disease, no family history of venous or arterial thrombosis, and no artherosclerotic risk factors for stroke. His CBC at the time demonstrated a hemoglobin of 8.7 g/dL, hematocrit 0.240, MCV 89.0 fL,
platelet count 650,000 /µL,
white blood cell count 11,200 /µL,
You are consulted as the hematologist on call along with stroke team.

15. What would be the best treatment option for this patient?