Case Study

1. BETA- THALASSEMIA
ABIGAIL A. BOATENG

2. CASE STUDY
• A 23 year old Filipino woman presents at the nearby walk-in clinic . She
complains of major fatigue, lack of appetite, tiredness, dark urine, pale/
yellowish skin and abdominal swelling.

3. CASE STUDY
• WHAT DIAGNOSIS WOULD YOUR INITIAL DIAGNOSIS BE?
• WHAT TESTS WOULD YOU PERFORM?

4. CASE STUDY
• Beta thalassemia is a blood disorder
that reduces the production of
hemoglobin.
• Results in abnormal peripheral blood
smear, microcytic hypochromic
anemia and etc.
• Hemoglobin- iron containing protein
in red blood cells which carriers
oxygen to cells within the body.

5. DIAGNOSIS/TESTING
Red blood cell count- microcytic hypochromic anemia
Nucleated blood cells
Hemoglobin analysis- shows decreased amounts of HbA and hemoglobin

6. STRUCTURE OF HEMOGLOBIN

7. Conformation changes on oxygen binding to
deoxy-hemoglobin

8. • Beta globin is made on chromosome #11 and if one or both
genes that alerts chromosome 11 to produce beta globin is
altered, production of beta globin decreases which affects
hemoglobin level and cause lack of transportation of oxygen

9. REFERENCES
• 1. Beta Thalassemia. (n.d.). Retrieved December 16, 2016, from
http://kidshealth.org/en/parents/beta-thalassemia.html
• 2. Origa R. Beta-Thalassemia. 2000 Sep 28 [Updated 2015 May 14]. In:
Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®
[Internet]. Seattle (WA): University of Washington, Seattle; 1993-
2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1426/