Posts Tagged ‘inherit’

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

Is genetic counseling for you?

Tuesday, January 26th, 2010

genetic-counselorAnyone who has unanswered questions about diseases or traits that run in the family should consider genetic counseling. People who may find it valuable include:
• Those who have, or are concerned that they might have, an inherited disorder or birth defect.

• Women who are pregnant or planning to be after age 35.

• Couples who already have a child with mental retardation, an inherited disorder or a birth defect.

• Couples whose infant has a genetic disease diagnosed by routine newborn screening.

• Women who have had babies who died in infancy or three or more miscarriages.

• People concerned that their jobs, lifestyles or medical history may pose a risk to outcome of pregnancy. Common causes of concern include exposure to radiation, medications, illegal drugschemicals  or infections.

• Couples who would like testing or more information about genetic conditions that occur frequently in their ethnic group.

• Couples who are first cousins or other close blood relatives.

• Pregnant women whose ultrasound examinations or blood testing indicate that their pregnancy may be at increased risk for certain complications or birth defects.

If you think you could benefit from genetic counseling, call your local chapter of the March of Dimes, or send an email to Askus@marchofdimes.org, for information on services in your area.

Carrier screening for cystic fibrosis

Tuesday, September 15th, 2009

blood-samplesCystic fibrosis (CF)  is a serious inherited disease that affects the lungs and makes it hard to digest food.

In the United States, about 1 out of every 3,500 babies is born with CF. It is most common among people who are white.

CF carrier screening tests identify men and women who carry an abnormal gene for CF. This means that their babies might inherit the disease.

To inherit cystic fibrosis, a child must receive two abnormal CF genes, one from each parent. A CF carrier is a healthy person who has one normal CF gene and one abnormal CF gene.

Health care providers routinely offer a carrier screening test to men and women who have a family history of CF. Many providers also offer the test to all couples who are planning pregnancy or are pregnant. Couples must decide for themselves if testing is right for them.

To take the test, men and women provide a blood or saliva sample.

An improved carrier screening test was recently announced. It can detect 39 genetic mutations that can lead to CF.

For more info about CF and carrier screening, talk to your health care provider.