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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Sickle cell anemia


Other Names for this Disease
  • HbS disease
  • Hemoglobin S Disease
  • Sickle cell disease
  • Sickling disorder due to hemoglobin S
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Your Question

I heard it is possible to diagnose sickle cell disease during pregnancy. If true how soon in the pregnancy can this diagnosis be made?  More importantly is there a way to treat the disease should it be diagnosed during pregnancy?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is it possible to find out during pregnancy if the fetus will have sickle cell anemia?

Yes, prenatal testing can be performed to determine if a fetus will have sickle cell anemia. Genetic counseling is recommended for people who are interested in this type of testing.

Before prenatal testing for sickle cell anemia can be done, each parent needs to have a genetic test to look for a mutation in the HBB gene.   Once both parents' mutations are known, DNA from the fetus can be tested to determine if the fetus has inherited the mutations. There are two common procedures for getting a sample of fetal DNA for testing.  One of the procedures is called chorionic villus sampling (CVS), and it is typically done in the first trimester (between weeks 11 and 13). The other procedure is called amniocentesis, and it is typically done in the second trimester or later (from about week 16 onward). DNA samples collected from either of these procedures may be sent to a laboratory for sickle cell anemia mutation testing.[1]
Last updated: 12/20/2012

Is there a way to treat a fetus affected with sickle cell anemia during the pregnancy?

There is currently no treatment or cure available for fetuses diagnosed with sickle cell anemia during pregnancy. Individuals born with sickle cell anemia have available to them treatments that can help relieve symptoms and treat complications.  The National Hearth Lung and Blood Institute provides additional information on treatment of sickle cell anemia. 
Last updated: 11/3/2011

Is there a way to prevent having a child with sickle cell anemia?

Preimplantation testing, also called preimplantation genetic diagnosis (PGD), is a specialized technique that can reduce the risk of having a child with a particular genetic or chromosomal disorder. It is used to detect genetic changes (mutations) in embryos that were created using in-vitro fertilization (IVF). IVF involves removing egg cells from a woman’s ovaries and fertilizing them with sperm cells outside the body. To perform preimplantation testing, a small number of cells are taken from these embryos and tested for the genetic changes in question. Only embryos without these changes may then be implanted in the uterus to initiate a pregnancy.[2]
Last updated: 12/7/2010

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013

References