S, βeta-Thalassemia, Hemoglobin Disorder Screening -Infant

Summary of Recommendation and Evidence

Population	Recommendation	Grade (What's This?)
Screening of both Genders	The genetic screening for S, βeta-Thalassemia is recommended.	B

Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.

OVERVIEW

Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major (also known as Cooley's anemia) and thalassemia intermedia. Of the two types, thalassemia major is more severe.

PREVALENCE

Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia.

INHERITANCE

Beta thalassemia is inherited in an autosomal recessive manner. It affects both boys and girls equally.

CLINICAL CHARACTERISTICS

The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop yellowing of the skin and whites of the eyes (jaundice). Affected individuals may have an enlarged spleen, liver, and heart, and their bones may be misshapen. Some adolescents with thalassemia major experience delayed puberty. Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. Over time, an influx of iron-containing hemoglobin from chronic blood transfusions can lead to a buildup of iron in the body, resulting in liver, heart, and hormone problems.

EARLY SIGNS

Signs of s, beta-thalassemia (Hb S/ßTh) usually begin a couple of months after birth. In some cases, signs may not appear until childhood.

Depending on the severity of the condition, early signs of Hb S/ßTh can include:

Sleeping longer or more often
Tiredness
Difficulty breathing
Swelling in the hands or feet
Cold hands or feet
Pale skin

These signs can occur if your baby has a low number of red blood cells or if the crescent (sickle) shaped red blood cells stick together and block a blood vessel.

If your baby shows any of these signs, be sure to contact your baby’s doctor immediately.

The severity of Hb S/ßTh varies from person to person. In the most severe cases, you may see signs similar to sickle cell anemia. However, some children have a mild form of the condition with very few signs.

CAUSES

Every cell of the human body needs oxygen. One responsibility of our blood is to bring the oxygen we breathe from our lungs to the different parts of our body. Round or donut-shaped red blood cells carry the oxygen in the blood and can move easily through our blood vessels.

Babies with s, beta-thalassemia (Hb S/ßTh) do not make enough healthy red blood cells. If you baby has Hb S/ßTh, his or her body makes some red blood cells that are a crescent or sickle shape rather than a round or donut shape. These unusually shaped cells do not live as long as normal red blood cells. This can lead to anemia, a low number of red blood cells.

The sickle or crescent shaped cells also tend to get stuck in blood vessels. When this happens, some parts of the body may not get enough blood. If red blood cells are not able move through the blood vessels, the body cannot get enough oxygen. This can cause many of the signs mentioned in Early Signs.

Hb S/ßTh is an autosomal recessive genetic condition. Hb S/ßTh occurs when a child inherits two non-working genes, one from each parent: one gene with the S trait (sickle cell anemia trait) and one gene with the Beta-thalassemia trait. Both sickle cell anemia and Beta-thalassemia are genetic conditions that affect the quality of the red blood cells.

The parents of a child with Hb S/ßTh each carry a single copy of one of these non-working genes, but they typically do not show signs and symptoms of the condition. While having a child with Hb S/ßTh is rare, when both parents are carriers, they can have more than one child with the condition.

TREATMENT

Fluids

Dehydration occurs when an individual does not have enough fluid in his or her body. Babies with s, beta-thalassemia (Hb S/ßTh) need to get plenty of fluids because dehydration can increase the pain associated with Hb S/ßTh.

Medications

Children with Hb S/ßTh may need pain medication. Pain associated with Hb S/ßTh can usually be managed through over-the-counter painkillers like Tylenol. If it continues or becomes severe, your baby’s doctor may prescribe stronger medicines.

If your baby has Hb S/ßTh, he or she may develop repeated infections, especially during childhood. Your baby’s doctor may prescribe a daily dose of antibiotics to help prevent these infections.

Your baby’s doctor may also prescribe Hydroxyurea if your baby’s Hb S/ßTh is severe. This medication prevents anemia (low levels of red blood cells) by keeping the red blood cells from becoming sickle or crescent-shaped.

Blood Transfusions

Some children with Hb S/ßTh may need a blood transfusion because they do not have enough healthy red blood cells. In this procedure, blood from a healthy individual is given to someone with s, beta-thalassemia.

EXPECTED OUTCOMES

Treatments can help relieve some of the signs, symptoms, and complications of beta-thalassemia (Hb S/ßTh). Children who receive early and on-going treatment can live healthy lives. With treatment, Hb S/ßTh usually does not shorten life expectancy.

Even with proper treatment, your child may still experience some signs and symptoms such as pain, anemia, and yellowish skin (jaundice). The more carefully you follow your child’s treatment plan, the healthier he or she can be.

It is important to screen for and treat s, beta-thalassemia because, if untreated, babies with a severe form of the condition can die within their first year of life.