Ema, aged one year, and her mother Ogwa recently moved to Canterbury from Nigeria. On 2 January, Ogwa brought Ema to A&E, concerned about Ema’s severely swollen hands and feet and persistent extreme irritability. Ogwa is generally fit and well. Until now, Ema has had no medical issues. Ema’s father is also well and healthy with no known medical issues. (He remains in Nigeria temporarily due to the nature of his work and plans to join his wife and daughter in Canterbury soon.) No one in the family has participated in any disease screening programmes. Your lab is to undertake a full blood count, blood films and Hb electrophoresis for both the mother and daughter. Unfortunately, the sample of blood to be used to make Ema’s blood films was lost when it was accidentally dropped by the courier upon delivery to your lab. As blood samples were also sent for further tests to a hospital in London, the lab there has kindly agreed to use an aliquot of the blood sample to make and analyse the blood films. The London lab will share images of the blood films with your team later via digital pathology using the Aiforia virtual microscope platform. Explain ONE suitable additional test the lab in London might use to determine the haemoglobin proteins present in Ema’s cell lysate. Explain the result that would support your most likely diagnosis.
Ema, aged one year, and her mother Ogwa recently moved to Canterbury from Nigeria. On 2 January, Ogwa brought Ema to A&E, concerned about Ema’s severely swollen hands and feet and persistent extreme irritability. Ogwa is generally fit and well. Until now, Ema has had no medical issues. Ema’s father is also well and healthy with no known medical issues. (He remains in Nigeria temporarily due to the nature of his work and plans to join his wife and daughter in Canterbury soon.) No one in the family has participated in any disease screening programmes. Your lab is to undertake a full blood count, blood films and Hb electrophoresis for both the mother and daughter. Unfortunately, the sample of blood to be used to make Ema’s blood films was lost when it was accidentally dropped by the courier upon delivery to your lab. As blood samples were also sent for further tests to a hospital in London, the lab there has kindly agreed to use an aliquot of the blood sample to make and analyse the blood films. The London lab will share images of the blood films with your team later via digital pathology using the Aiforia virtual microscope platform.
Explain ONE suitable additional test the lab in London might use to determine the haemoglobin proteins present in Ema’s cell lysate. Explain the result that would support your most likely diagnosis.
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