Sickle Cell Trait

I have sickle trait. I seem to have a crisis once or twice a year. Last time was when I flew back from Cape Town to London. They eventually put me on oxygen but took a while to settle. Are there any clinics in the UK?

 

There are sickle cell clinics in the UK.  Some of the best research and clinical studies about sickle cell disease comes from the UK.

 

I would recommend to make sure you have sickle cell trait and not sickle beta plus thalassemia. It is unusual for a person with sickle cell trait to have “crisis” at all.  Having the right diagnosis is really important. People with S beta plus thalassemia can have levels of normal hemoglobin from 30% to as low as 5%.

 

You should have pulmonary function testing to make sure you don’t have a pulmonary problem. There is a way to simulate flight or high altitude and you can see whether or not your oxygen level goes down during this test.  You might also consider a sleep study to be sure you do not have low oxygen levels during sleep.

 

 

I'm 24 years old and I have sickle cell trait. Where I live in Puerto Rico, nobody know how to help me how to deal with this. I am one of the unlucky ones who is having problems with my organs and my healthcare plan does not cover anything regarding sickle cell trait. Can you send me some info about what I should do?

 

Are you sure you have sickle cell trait?  I have had other people ask the same question: “I have sickle cell trait and have symptoms similar to sickle cell disease.”  Many of these people have the wrong diagnosis, they have a form of sickle cell disease that is called sickle beta thalassemia or occasionally some other rare form of sickle cell disease.  You need to go to a doctor who knows what tests to do to make sure you have sickle cell trait and not sickle cell disease.  There are hematology-oncology medical groups in Puerto Rico.  People with sickle cell trait can have some problems, especially if they exercise and do not drink enough water.  Generally they do not have other problems.

 

 

My wife has chronic pain, swelling in joints, and fatigue. She also has sickle cell trait and thalassemia trait, could this be the cause of her suffering? She had an appointment with an oncologist, who is also supposed to be a hematologist but admits that he didn't know much about sickle and specializes in cancer. He prescribed her a folic acid and said that it wasn't much more he could do.

 

Your wife could have S beta zero thalassemia (which is the same as having hemoglobin SS) or she chould have S beta + thalassemia (which is not as "bad" as SS, but can be pretty bad).  So you need to have hemoglobin testing by to see what the real diagnosis is.

 

Genetics:  You have two copies of the beta globin gene (the one that carries the sickle cell and thalassemia mutations), one from each parent.

 

Parents: If you have beta zero thalassemia trait that means that you inherited one normal gene and one gene that does not make any hemoglobin (a lot of reasons for this) this would be one of your parents.  This parent might have "anemia" with small red cells but the diagnosis could not be made without hemoglobin electrophoresis or DNA testing.  The other parent would have one normal gene and one gene with the mutation for hemoglobin S, sickle cell trait.  This would be picked up with hemoglobin electrophoresis.

 

So if you inherit the gene that does not make hemoglobin (the Beta Zero gene) and the gene that only makes hemoglobin S, you only make hemoglobin S: you have the equivalent of sickle cell anemia.

 

Some thalassemia mutations are not "complete" and there is some normal hemoglobin (hemoglobin A) made.  This is called Beta Plus Thalassemia because unlike the "zero" gene this gene does make some normal hemoglobin (again, a lot of reasons for this as well).

 

In this second case you would make S and some A.  You would not have sickle cell trait (AS: 60% A and 40% S), you would have sickle beta plus thalassemia (SA: 70%S and 30% A).  The percentages given for SA are what is usually seen for the beta plus gene, some thalassemia genes are closer to beta zero and make less than 10% A.  This could make the S beta plus thalassemia a little worse clinically.

 

Complicated, but I hope this helps.

 

Someone who knows more about sickle cell disease than I do is in your state.  I would encourage you to see if you could see Dr. James Eckman at Emory or someone he recommends.  He is a leader in sickle cell disease, particularly adults.  Besides that he is a wonderful person.

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