My adult daughter was recently diagnosed with sickle cell trait. ?

Question

Blood test shown that my daughter was diagnosed with sickle cell trait. I do not have the trait (at least I am not aware of, however I will be getting a test conducted soon) nor do her father and most importantly at Birth - blood was drawn from my daughter for the purpose of routine tests which I though sickle cell was part of. All test were fine (negative) for any disorder. My question is can and how is this be possible that she now have a trait of sickle cell?

Answer 1

Blood tests done at birth do not necessarily test for sickle cell trait. It is a specialised test which needs to be done separately. Anyone with the trait will not show any symptoms under normal conditions in routine tests. What your daughter probably had was the routine tests for blood grouping, haematology and biochemistry profiles, which would all not normally be affected by Sickle cell trait.

As others have noted, you cannot acquire the trait, it is inherited as a recessive disorder. Your daughter has inherited a sickle cell gene from either you or her father. There is no other way to get it. On the up side, it should not affect her health, but if she decides to have children, then her partner should obviously be tested.

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Answer 2

Sickle cell anemia is a regressive genetic condition.  It's evolutionary roots are that a person with one copy of the gene has a higher Resistance to malaria.  The problem is that when a child inherits two copies of the gene, the blood platelets are deformed.  Based on this, both you and the father carry the sickle cell gene, but you are not symptomatic, because you each have a good copy of the gene.  A DNA test will probably confirm this.  Your daughter, unfortunately, got both the bad copies.

The earlier blood test may have been in error.  I'm not expert on sickle cell anemia, so I don't know if the condition manifests itself from birth or not.

Answer 3

You don't "acquire" a sickle-cell trait through the environment. If tests were done at birth that showed a negative test result (meaning no evidence of a sickle-cell trait was found), then obviously the test was a "false-negative".

"False-negatives" are the result when you get a negative test result for a trait, when it fact the patient has the trait. This must be the case for your daughter.

The reason for such a "false-negative" result is because being the carrier of a sickle-cell trait means that only half of your daughter's blood cell are sickle shaped, the other half are normal.

When the tests of you and the dad are completed, it SHOULD show that one of you is a carrier of the sickle-cell trait, of which was passed along to your daughter.

It's not a grave diagnosis. In fact, your daughter is now resistant to malaria because of being a carrier for the sickle-cell trait.