Hemoglobinopathies are a group of inherited conditions that affect hemoglobin, the protein in red blood cells that carries oxygen. They are among the most common genetic conditions found through newborn screening, and every U.S. state screens for them.
What causes hemoglobinopathies
Hemoglobinopathies are caused by variants in the genes that build hemoglobin, mainly the HBB gene (beta-globin) and the HBA1 and HBA2 genes (alpha-globin). Some changes alter the structure of hemoglobin, as in sickle cell disease, while others reduce how much is made, as in the thalassemias. Most are inherited in an autosomal recessive pattern, so a child usually inherits a variant from each parent.
How newborn screening detects it
Using a few drops of blood from the heel prick, the newborn screen separates and measures the different types of hemoglobin, with laboratory methods such as HPLC, isoelectric focusing, or electrophoresis. This identifies babies with sickle cell disease and other significant hemoglobin disorders, and it also flags carriers, such as sickle cell trait. Abnormal results are confirmed with follow-up testing.
What the results mean and how they are managed
Management depends on the specific condition. Sickle cell disease benefits from early care including penicillin to prevent infection, vaccinations, and specialist follow-up, which is why early detection is so valuable. The thalassemias range from mild to serious and are managed by a hematologist. A carrier or trait result usually does not affect a child's health but is useful information for the family. For a closer look at one specific condition, see our sickle cell newborn screening guide.
How genetic screening fits in
State newborn screening does an excellent job of catching hemoglobinopathies. Genetic screening looks at the same picture from the DNA level and, in a single test, can also assess the genes tied to more than 1,000 other clinically actionable childhood conditions, many of which are not on any state panel. Fore Genomics offers an at-home cheek-swab screen, sequenced in CLIA-certified and CAP-accredited labs, with results supported by board-certified genetic counselors. See what we screen for or start screening.
Frequently asked questions
Are hemoglobinopathies on every state's panel?
Yes. Hemoglobin disorders, including sickle cell disease, are core conditions on the federal Recommended Uniform Screening Panel and are screened for in all U.S. states.
What does it mean if my baby is a carrier or has trait?
A carrier or trait result means the child inherited one hemoglobin variant. This usually does not cause health problems, but it can be important for future family planning. A genetic counselor can explain what it means for your family.
Are hemoglobinopathies inherited?
Yes. They are typically autosomal recessive, so a child inherits a variant from each parent. Parents are often unaffected carriers.
Related guides
Medically reviewed by Fore's Clinical Team. This article is for general educational purposes and is not medical advice. Sources: HRSA Newborn Screening; National Organization for Rare Disorders (NORD).