Is thalassemia tested on the newborn screening?

Newborn screening for alpha thalassemia is done in all states. A blood spot from a prick on a baby’s heel is used to screen for a number of different genetic conditions. Babies with any type of alpha thalassemia can be detected on the newborn screen.

Can you refuse newborn screening in California?

To ensure the health of all newborns, it’s California state law that all babies born in the state have the Newborn Screening Test completed. The test can only be refused if it conflicts with your religious beliefs.

Does beta thalassemia show up on newborn screen?

Most cases of hemoglobin variants and alpha thalassemia are detected on the newborn screen, whereas beta thalassemia is not clinically apparent until about 4-6 months of life.

How is thalassemia detected in newborns?

There are several recommended testing methods for diagnosis of hemoglobinopathies and thalassemias: Hemoglobin electrophoresis including both cellulose acetate and citrate agars (one is not sufficient), isoelectric focusing and high performance liquid chromatography are considered proven, reliable and accurate methods …

How do you know if a baby is a Sickler?

If your baby has Hb SS, they will have a large number of red blood cells that are sickle or crescent shaped rather than donut-shaped. Clinical genetic testing for Hb SS is available and may be necessary to confirm the diagnosis.

How do I get my California newborn screening results?

How Can I Get The Results? You can get your baby’s test results from your doctor or clinic. If your doctor does not have the results, he/she can contact the Newborn Screening Program to request a copy. When your baby has the test done, the hospital staff will give you the pink and blue copies of the test request form.

Why is newborn screening mandatory?

If left untreated, the baby may develop serious problems. This is why newborn screening is essential as it helps with the early diagnosis of these conditions so babies can begin treatment as soon as possible—before the disease even turns serious or so early interventions can be made.

What happens if a newborn screening test comes back positive?

A “positive” or “out-of-range” result means that the baby’s screening exam did show signs that the baby may be at higher risk of having one or more of the conditions included on the newborn screening panel. This does not mean that the baby definitely has a medical condition.

Can you have a baby with thalassemia?

Can You Get Pregnant With Beta Thalassemia? Yes, but you may need help getting pregnant. Often, women with beta thalassemia will need to use medications to help them ovulate in order to become pregnant. Many health problems caused by beta thalassemia have to do with too much iron in your body.

Can thalassemia major Be Cured?

Bone marrow and stem cell transplant from a compatible related donor is the only treatment that can cure thalassemia. It is the most effective treatment.

What is the treatment for beta thalassemia?

Treatment for beta thalassemia may include: Regular blood transfusions. Medications (to decrease amount of iron in the body, called chelation therapy) Surgical removal of the spleen (if necessary)