I am a 26 week pregnant female, and I just recently found out that I have G6PD Deficiency and the sickle cell trait. I am worried that my child may develop something fatal as a result. So can you please let me know what can become of this combination.
The combination, in itself, of G6PD deficiency and sickle cell trait does not pose any particular problem. There is little or no interaction between G6PD deficiency and sickle cell trait. Because both traits are so frequent in some populations (peoples whose ancestors came from Sicily, Sardinia, West Africa, etc), the combination is well known and so is the fact that it poses no special problems for you or your baby.
As to the G6PD deficiency, you (being a woman) have two X chromosomes. The gene for G6PD deficiency is on only one of your two X chromosomes so you should experience no serious consequences from being a G6PD-deficiency carrier. The same applies to your baby if it is a girl. She should experience no serious consequences from being a G6PD-deficiency carrier.
However, if your baby is a boy, he has a 50% chance of inheriting your X chromosome that bears the G6PD gene (that being his only X) so he will be G6PD deficient. Under certain circumstances, this can cause problems (mainly jaundice in the newborn period and anemia). These can be dealt with effectively as long as both your obstetrician and the pediatrician who will care for your child know in advance about your being a G6PD carrier. You should discuss this matter pronto with your ob and then with your pediatrician. (If you don't have a pediatrician, maybe your ob can recommend one).
As regards the sickle trait, it is most important that your mate (the father of the baby) be tested as soon as possible to see whether he carries the sickle trait, too. If he doesn't, there will no health problems for the baby.
If the father of your baby also has the sickle cell gene, there is a significant chance (25%) for your baby to have sickle cell disease which can be quite a serious illness. This can be gone into in detail once it is known that the father of your baby is a sickle carrier. That is why there is some urgency about his being tested for sickle.
We would strongly recommend that you discuss all these matters (and any others on your mind) with your ob and, if the ob agrees, with a genetic counselor since it is somewhat complicated.
Last Editorial Review: 4/30/2002
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