Why do you think his mother has been on regular transfusion?

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Mrs. Kathy Jones comes in for regular transfusion and informs the doctor that she is pregnant. Doctor sends her to prenatal clinic with some notes. The prenatal clinic asks her and father of the baby (Mr. Mitchell Jones) to undergo genetic testing followed by counseling. The couple returns for blood test and is tested for FBE, Haemoglobin Electrophoresis and High Performance Liquid Chromatography (HPLC).

After birth, child (baby Andrew Jones) is not feeding or thriving very well and an Hb electrophoresis, HPLC is also performed on the child.

Tasks:

• You will have to review the following blood film images and interpret the results of Hb electrophoresis and HPLC demonstrated on mother Kathy, father Mitchell and baby Andrew.
• Interpret & report on your results. What is your diagnosis for Andrew based on the family’s medical history and test reports? Why do you think his mother has been on regular transfusion?
• In your report include the pathophysiology and possible treatment for all family members. Are there any risks to any more children this couple may want to have together in future?

For the purpose of writing this report (manuscript in form of a publishable paper) please include a background (about the conditions family members may have), aim of this experimentation, material and method, results (tabulate all family results in simple easy to understand manner with table and/or figure numbers with captions) and, discussion (including interpretation of results, pathophysiology of all the conditions the family members have, possible treatment and risk to future family members) and conclusion. Please use Harvard referencing system and submit the report to Turnitin.

Please include the FBE reports of the family with your comments on the morphology as appendix in your case study report. Please feel free to also use the Hb electrophoresis images and the HPLC charts to indicate any abnormality. Unfortunately the differential white cell counts are not available and hence you need not comment on the WBC or platelet morphology in your report.

A detailed guide to writing the report and a template is provided to you, to aid in writing the report.

 
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