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. (Normal reference ranges appropriate for each patient are shown in brackets.) Ema’s Results Ogwa’s Results Haemoglobin 7.2 g/dL (10.5–13.5 g/dL) 13.9 g/dL (12 - 16 g/dL) Reticulocytes 53/1000 RBC (8 – 20/1000 RBC) 5/1000 RBC (2 - 20/1000 RBC) Leukocytes 13.9 × 109/L (5 – 15 × 109/L) 7.2 x 109/L (4 - 11 x 109/L) Thrombocytes 452 × 109/L (228 – 433 × 109/L) 298 × 109/L (140 - 400 × 109/L) Give the most likely diagnosis for each family member and briefly explain how data from each of the following contributed to the diagnosis: background/clinical history, FBC, blood films (Aiforia), Hb electrophoresis result.
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.
(Normal reference ranges appropriate for each patient are shown in brackets.)
|
|
Ema’s Results
|
Ogwa’s Results |
|
Haemoglobin |
7.2 g/dL (10.5–13.5 g/dL) |
13.9 g/dL (12 - 16 g/dL) |
|
Reticulocytes |
53/1000 RBC (8 – 20/1000 RBC)
|
5/1000 RBC (2 - 20/1000 RBC) |
|
Leukocytes |
13.9 × 109/L (5 – 15 × 109/L)
|
7.2 x 109/L (4 - 11 x 109/L) |
|
Thrombocytes |
452 × 109/L (228 – 433 × 109/L)
|
298 × 109/L (140 - 400 × 109/L) |
Give the most likely diagnosis for each family member and briefly explain how data from each of the following contributed to the diagnosis: background/clinical history, FBC, blood films (Aiforia), Hb electrophoresis result.
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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.
by Bartleby ExpertBased on your diagnosis for Ema, name and briefly summarise the rationale for 10 different medical treatments that may be required in the future for Ema. Structure this in list form.
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