Question

Case Study: Sickle Cell Anemia
You need to prepare a case study of a patient with all the necessary information (chief complaint, current medical history, symptoms, signs, past medical history, family history, or physical and laboratory diagnostic findings)
a) Possible diagnoses (differential diagnosis). After analyzing the patient’s case, you need to make 3 (minimum) to 4 (maximum) possible diagnoses (rank by the most possible to the least possible). You need to be specific: e.g. a diagnosis of anemia is not specific enough, you need to elaborate: which type of anemia. If you make less than 3 differential diagnoses, your points will be deducted.
b) Explanation of Pathophysiology of each of differential diagnoses. You need to write all of the pathophysiologies thoroughly of each of your differential diagnoses you write in the first part. This has to be detailed enough so that you can explain all the signs, symptoms, patient’s history, and all diagnostic test results. There are no minimum or a maximum number of pages you need to write, but comprehensive pathophysiology should suffice.
c) Your suggestions of what extra work-up/laboratory/diagnostic tests/information needed to come to a more definite diagnosis for the patient.
d) In the last part, you need to give suggestions, as to what is (are) to be done to come to a more specific diagnosis for your patient case.
e) Treatment  

Answer 1

a) *CHRONIC HAEMOLYTIC ANEMIA * BETA THALASSEMIA * ELECTROPHORESIS * HAEMOGLOBIN SC DISEASE b) CHRONIC HAEMOLYTIC ANEMIA- * PATHOPHYSIOLOGY- IMMATURE DISTRUCTION OF RBC LEADS TO LACK OF OXYGEN SUPPLY TO THE TISSUES. * SIGNS AND SYMPTOMS- JAUNDICE, ABNORMAL COLOUR OF SKIN, DARK COLOURED URINE, TIREDNESS, FEVER AND CONFUSION. PATIENT HAVE THE HISTORY OF AUTOIMMUNE DISORDER. _ ELECTROPHORESIS- THIS SHOW ONLY HBS WITH AN HBF CONCENTRATION LESS THAN 30% IS SICKLE CELL ANEMIA. _ BETA THALASSEMIA- CAUSED BY DEFECTS IN THE BETA GLOBIN GENE, BUT SICKLE CELL ANEMIA CAUSED BY DEFECTS IN HAEMOGLOBIN WITH PRESENCE OF ABNORMAL HAEMOGLOBIN S. * SIGNS AND SYMPTOMS- ANEMIA, FREQUENT INFECTION, PAIN, PULMONARY HTN, ENLARGED SPLEEN. _ HAEMOGLOBIN S DISEASE- IT OCCURS BY INHERITANCE. * SIGNS AND SYMPTOMS- FATIGUE, ANEMIA IS LESS SEVERE THAN SICKLE CELL ANEMIA, AND EXTREME PAIN. c) SICKLE CELL GENETIC TEST, SODIUM METABISULFITE TEST, HEMOGLOBIN S SOLUBILITY TEST. d) *SICKLE CELL GENETIC TEST IS USED TO DETERMINE PRESENCE OF HAEMOGLOBIN S OR MUTATIONS IN THE GENE THAT PRODUCE SICKLE CELL ANEMIA. * HEMOGLOBIN S SOLUBILITY TEST- EVALUATED ABNORMAL HAEMOGLOBIN S. * SODIUM METABISULFITE TEST- USED TO IDENTIFY SICKLE SHAPED RBC.