Newborn Screening Conditions

Sickle cell anemia (HbSS) is a type of sickle cell disease and an inherited condition of the blood. People who have this form of sickle cell disease inherit two sickle cell genes (“S”), one from each parent. This is usually the most severe form of the disease. In a healthy person, red blood cells are round, donut shape. In a person affected by HbSS some of the red blood cells are a crescent or sickle shape. These abnormally shaped cells do not live if normal red blood cells and tend to get stuck in blood vessels where they can block the flow of blood to certain parts of the body. If the condition is left untreated, it can cause a shortage of red blood cells (anemia), organ damage, or even death. However, if HbSS is identified and treated early in life, individuals often can lead healthier lives.

Sickle cell trait (SCT) is not a mild form of sickle cell disease. Having SCT means that a person carries a single gene for sickle cell disease (SCD) and can pass this gene along to their children. People with SCT usually do not have any of the symptoms of SCD and live a normal life.

The sickle cell gene causes production of sickle hemoglobin. Hemoglobin is a liquid inside our red blood cells that carries oxygen. People living with SCT have both normal (round) and sickle (C-shaped) hemoglobin in their red blood cells.

Knowing your sickle cell status helps you make informed health behavior and reproductive decisions.

How Sickle Cell Trait is Inherited

People who inherit one sickle cell gene and one normal gene have SCT, and can pass the trait on to their children.

If both parents have SCT, there is a:

• 50% chance that their child will also have SCT.
• 25% chance that their child will have Sickle Cell Disease (SCD).
• 25% chance that their child will not have SCT or SCD.

Populations at Risk

Anyone can have SCT, but it is more common among people whose ancestors come from Africa, the Mediterranean region, Middle East  and South Asia.

1 in 12 blacks or African Americans in the United States has SCT.

Testing for Sickle Cell

All infants born in U.S. are screened shortly after birth as part of newborn screening. The physician receives these results and informs the parents. Newborn screening for sickle cell began in Indiana in 1985.

If you do not know your status, it is recommended to talk to your physician about being tested or ask them to obtain newborn screening results for you.

Get Tested

To find out if you have SCT, your healthcare provider can order a simple blood test.

Most insurances cover the cost of the blood test.

Hemoglobin SC Disease is a type of sickle cell disease, which is an inherited blood disorder that affects more than 70,000 Americans, mostly of African descent. It causes severe pain, organ damage, and sometimes early death. The condition arises from a genetic defect that alters the structure of hemoglobin, the oxygen-carrying protein found in red blood cells. The long-term outlook for people affected by hemoglobin SC disease can vary depending on the severity of symptoms. Some patients are minimally affected by the condition while others have more serious complications and require blood transfusions. HbSC disease increases the risk of developing proliferative sickle cell retinopathy. Without close monitoring by an ophthalmologist, this condition can lead to vision loss.

CH is an inherited condition that affects the thyroid gland. The thyroid gland is an organ that is located in the lower region of the neck. It produces thyroid hormone which plays an important role in brain development and metabolism. Babies with CH are born without the thyroid gland, or have the gland, but it is not functioning properly. CH can cause fatigue and developmental delays. About 1 in 4,000 babies are born with this condition each year in the US. Treatment usually involves thyroid hormone replacement medication and dietary adjustments.

• Argininosuccinic Aciduria
• Biopterin Cofactor Defects
• Citrullinemia, type I
• Citrullienemia, type II (Citron Deficiency)
• Hypermethioninenemia
• Hyperphenylalaninemia (H-Phe)
• Maple syrup urine disease (MSUD)
• Phenylketonuria (PKU)
• Tyrosinemia, type I
• Tyrosinemia, type II
• Tyrosinemia, type III

• 2,4-Dienoyl-CoA Reductase Deficiency
• Carnitine-acylcarnitine translocase deficiency (CACT)
• Carnitine palmitoyltransferase deficiency I (CPT IA)
• Carnitine palmitoyltransferase deficiency II (CPT II)
• Carnitine uptake defect (CUD)
• Glutaric acidemia type II (GA type II)
• *Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
• Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
• Medium/short chain L-3- hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)
• Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
• Trifunctional Protein Deficiency
• Very long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
• Medium-chain ketoacyl-CoA thiolase deficiency (MCAT)

• Krabbe
• Pompe
• MPS-I (Hurler Syndrome)

• Galactosemia: Classic Galactosemia (G/G)
• Galactosemia D/G variant
• Other galactosemia variants

The CCHD screening through pulse oximetry is one part of newborn screening. CCHD screening is a quick, noninvasive, gentle way to measure how much oxygen a baby has in his or her blood.  CCHD is used as part of newborn screening to determine the health of your baby’s heart and lungs. Babies who have low oxygen levels, less than 95%, may need to be evaluated for CCHD, sepsis, respiratory problems, or other conditions. It is important for parents to know that pulse oximetry cannot identify every child with CCHD; however, (7) different CCHDs can be detected by pulse oximetry screening. Most babies who pass the pulse oximetry screen will not have CCHD.