Posts Tagged ‘heredity’

What is sickle cell disease?

Tuesday, June 26th, 2018

Sickle cell disease (also called SCD) is an inherited condition that affects a person’s red blood cells. Inherited means it’s passed from parent to child through genes. A person with SCD has red blood cells shaped like a sickle. A sickle is a farm tool shaped like the letter C.

Healthy red blood cells are round and flexible. They can move easily through the body’s blood vessels. When a person has SCD, the red blood cells get stuck and clog the blood flow. These blockages cause pain, infections and sometimes organ damage and strokes. SCD also may cause anemia. Anemia is when you don’t have enough healthy red blood cells to carry oxygen from your lungs to the rest of your body.

SCD or sickle cell trait

SCD happens when a person inherits a gene change for sickle cell from both parents. If you inherit the gene change from just one parent, you have sickle cell trait. Even though this means you don’t have SCD, you can still pass the sickle cell trait to your children.

If you and your partner both have sickle cell trait, there’s a:

  • 3-in-4 chance (75 percent) that your baby won’t have SCD
  • 1-in-2 chance (50 percent) that your baby will have sickle cell trait
  • 1-in-4 chance (25 percent) that your baby will have SCD
  • 1-in-4 chance (25 percent) that your baby won’t have SCD or sickle cell trait

Find out if you have SCD or sickle cell trait

You can find out if you have SCD or sickle cell trait. You are more likely to have them if:

  • You’re black or Hispanic or if your family’s ancestors are from Africa, the Caribbean, Greece, India, Italy, Malta, Sardinia, Saudi Arabia, Turkey or South or Central America.
  • Members of your family have SCD or sickle cell trait. To help you find out, take your family health history. This is a record of any health conditions that run in your or your partner’s family.

You and your partner can get tested to find out if you have SCD or sickle cell trait. There are two tests, and both are safe during pregnancy. One is a blood test, and the other is a swab inside your mouth. This means your health care provider rubs a cotton swab against the inside of your cheek to get some cells.

How can you find out if your baby has SCD or sickle cell trait?

If you or your partner has SCD or sickle cell trait, ask your provider about having a prenatal test, like amniocentesis or chorionic villus sampling (also called CVS) to find out if your baby has either condition.

All babies are tested for SCD after birth as part of the newborn screening tests. This allows babies who have SCD to be identified quickly and treated early. Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are important.

More information

Family history awareness

Monday, December 6th, 2010

generations-at-the-tableOver the holidays, most of us try to get together with family members for fun and feasting. While you’re gathered to share a meal, you’ll be in a perfect situation to share your family health history, too. For those of us who are young and hoping to start a family some day, it’s important to know if anyone has had heart disease or diabetes, hearing loss or a serious vision problem, a child with a birth defect or genetic disorder.  Find out what’s “all in the family.”   I was surprised to learn that my grandmother had two brothers who died young from the same heart condition. Nobody ever mentioned it before.  Family health history information can help health care providers determine which tests and screenings are recommended to help family members know their health risks for certain conditions.

Here is a link to more information on the importance of keeping a family health history.   We have created some tools to make it easier for you to collect information.  Here is a questionnaire for adolescent and adult family history collection.  If you would like a handy form to help you collect your family’s health history for preconception/prenatal purposes, click here.   Take advantage of this time to have your past shed light on the future.