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Diseases

Genetic and Rare Diseases Information Center (GARD)

Sickle cell anemia


Other Names for this Disease
  • HbS disease
  • Hemoglobin S Disease
  • Sickling disorder due to hemoglobin S
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My partner and I both have sickle cell trait and are planning to have a baby. During the pregnancy, are there any tests that could tell us whether the baby will have sickle cell anemia?  Is there a way to make sure that we do not have a child with the condition?

Our Answer

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

How is sickle cell anemia inherited?

Sickle cell anemia is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[1] In regards to sickle cell anemia, a person who carries one copy of the mutated gene is said to be a carrier for the condition, or to have sickle cell trait. When two people who are carriers of an autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% (1 in 4) chance that the child will not have the condition and not be a carrier.
Last updated: 12/14/2015

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.[2]
Last updated: 12/20/2012

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.[3]
Last updated: 12/14/2015

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

References
Other Names for this Disease
  • HbS disease
  • Hemoglobin S Disease
  • Sickling disorder due to hemoglobin S
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.