Antenatal screening

Case A Joy and Aiden have met with their GP as part of routine antenatal screening. Initial tests returned the results below. Please comment on their significance. Test Joy Aiden Patient history 23 y.o. female pregnant (6 WG) Caribbean ethnic group 25 y.o. male West African ethnic group RBC 4 x 10^12/L 5.7×10^12/L Hb 112 g/L 170 g/L MCV 93 fL 88 fL MCH 28 pg 30 pg MCHC 302 g/L 340 g/L HbS Solubility Negative Positive The family is referred to a genetic consultant.

Upon meeting with the consultant, Aiden is asked about any genetic diseases running on his side of the family. Aiden shares he does not have genetic conditions but both his parents are carriers for Sickle Cell anemia and have one sister who has the condition. The consultant also is interested in Joy’s family history. She shares that her parent is deceased and did not suffer from any apparent condition. Her brother and sister are healthy. However, her brother is the carrier of sickle cell anemia, and has a daughter suffering from the condition. • What are common signs and symptoms of Sickle Cell Anaemia?