Discuss a patient's case with me (Problem Based Learning)

[blackjackCamy]

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We were given this case for our PBL (Problem Based Learning), and I would like to start a discussion here to know what you guys think.

Julia, a 29-year old healthy woman, presented to her obstetrician at 12-week gestation for her first prenatal visit. This is her first pregnancy and she is concerned about her baby and the risk of inheriting a 'blood disorder' like few others in her family. Julia reported a personal history of mild anemia but nothing as severe as her brother who required frequent transfusions and died at the age of 11.

Results of her complete blood test revealed small sized red cell anemia with hemoglobin level of 9g/dL (ref:12.0 - 16.0 g'dL) Hemoglobin electrophoresis demonstrated a pattern consistent with β-thalassemia. Further molecular analysis detected a nonsense mutation of one β-globin polypeptide allele and no α-globin deletions.

Julia is married to her first cousin and upon testing, her husband also revealed a nonsense mutation of one β-globin allele and no α-globin deletions. Julia and her husband were referred to the genetic clinics for further investigations.

 

[DermViser]

So what's the question?

 

[xffan624]

So what's the question?

I think OP wants us to do his homework.

 

[Goro]

And why should we do your homework for you?

We were given this case for our PBL (Problem Based Learning), and I would like to start a discussion here to know what you guys think.

Julia, a 29-year old healthy woman, presented to her obstetrician at 12-week gestation for her first prenatal visit. This is her first pregnancy and she is concerned about her baby and the risk of inheriting a 'blood disorder' like few others in her family. Julia reported a personal history of mild anemia but nothing as severe as her brother who required frequent transfusions and died at the age of 11.

Results of her complete blood test revealed small sized red cell anemia with hemoglobin level of 9g/dL (ref:12.0 - 16.0 g'dL) Hemoglobin electrophoresis demonstrated a pattern consistent with β-thalassemia. Further molecular analysis detected a nonsense mutation of one β-globin polypeptide allele and no α-globin deletions.

Julia is married to her first cousin and upon testing, her husband also revealed a nonsense mutation of one β-globin allele and no α-globin deletions. Julia and her husband were referred to the genetic clinics for further investigations.

 

[DermViser]

I think OP wants us to do his homework.

Yeah, I know. Hence my response to his wanting to know what "we think" and "start a discussion".

 

[Spinach Dip]

And SDN is a better resource than Google because.....?

 

[DermViser]

I think OP wants us to do his homework.

Well he wants premed input on a PBL case from medical school. Should end up being hilarious.

 

[Holmwood]

We were given this case for our PBL (Problem Based Learning), and I would like to start a discussion here to know what you guys think.

Julia, a 29-year old healthy woman, presented to her obstetrician at 12-week gestation for her first prenatal visit. This is her first pregnancy and she is concerned about her baby and the risk of inheriting a 'blood disorder' like few others in her family. Julia reported a personal history of mild anemia but nothing as severe as her brother who required frequent transfusions and died at the age of 11.

Results of her complete blood test revealed small sized red cell anemia with hemoglobin level of 9g/dL (ref:12.0 - 16.0 g'dL) Hemoglobin electrophoresis demonstrated a pattern consistent with β-thalassemia. Further molecular analysis detected a nonsense mutation of one β-globin polypeptide allele and no α-globin deletions.

Julia is married to her first cousin and upon testing, her husband also revealed a nonsense mutation of one β-globin allele and no α-globin deletions. Julia and her husband were referred to the genetic clinics for further investigations.

Prepare to laugh at my premed-ness. : D

B-thalassemia is non-lethal for heterozygotes. They're probably worried that their baby has both copies of the B-thalassemia mutation (of which the outcome is poor).

This will probably lead to a discussion of whether you should abort the fetus since it is 12 weeks in. Based on the couple's ... engagement as cousins, they might be from a rural area with religious beliefs that conflict against the idea of abortion.

Whatever the result of the testing shows, you have to respect patient autonomy. If they want to go forward with conception anyways, then provide them with the most information you can about the disease, how it is managed, etc.

 

[DermViser]

Prepare to laugh at my premed-ness. : D

B-thalassemia is non-lethal for heterozygotes. They're probably worried that their baby has both copies of the B-thalassemia mutation (of which the outcome is poor).

This will probably lead to a discussion of whether you should abort the fetus since it is 12 weeks in. Based on the couple's ... engagement as cousins, they might be from a rural area with religious beliefs that conflict against the idea of abortion.

Whatever the result of the testing shows, you have to respect patient autonomy.

I love how you combined anemia, abortion, consanguinity, genetic testing, and religious belief in this. I will add to it: One of them is a Jehovah's witness who doesn't want transfusions and the other is an Ashkenazi Jew who has the trait for Tay Sachs disease.

 

[Ismet]

SDN is not for homework help. Closing thread.