State-Based Monitoring for Selected Hemoglobinopathies

Many people in the United States who have a hemoglobinopathy (HEE-muh-glow-bin-OP-ath-ee) are aware that they have the condition. This is because routine testing of all newborns for some of the hemoglobinopathies is performed by the state-based newborn screening (NBS) programs. Although screening for sickle cell disease (SCD), one of the hemoglobinopathies, has been included as part of NBS in all 50 states since 2006, screening for other hemoglobinopathies, such as alpha- and beta-thalassemia (thal-uh-SEE-mee-uh), is currently performed in only a few states. In addition, many people at risk for a hemoglobinopathy who live in the United States were born either before NBS began in their state, or in a country without NBS. For these reasons, the actual number of people in the United States with hemoglobinopathies, and the associated public health impact, are unknown.

There is no ongoing monitoring system for hemoglobinopathies in the United States. This lack of a monitoring system makes it difficult for researchers to:

Identify people with these conditions,
Monitor use of healthcare services and any resulting changes in health or quality of life, and
Understand the impact of these conditions on the healthcare system.

About this Study

The National Heart, Lung, and Blood Institute (NHLBI)/NIH and the Division of Blood Disorders (DBD) at the Centers for Disease Control and Prevention (CDC) joined forces to develop a state-based monitoring system for SCD and thalassemia. The system, named the Registry and Surveillance System for Hemoglobinopathies or RuSH, was designed to identify and gather information on all people living with a hemoglobinopathy diagnosis of sickle cell diseases or thalassemia in one of the participating states (California, Florida, Georgia, Michigan, North Carolina, Pennsylvania, and New York) during 2004-2008.

This article, published in the journal, Genetics in Medicine, describes the efforts of the participating states and Federal Agencies to design the project and the methods used to collect data for the system. We invite you to read the abstract here.

Main Findings from this Study

This study identified 31,144 people who were living in California between 2004-2008 with a hemoglobinopathy diagnosis; 39,633 in Florida; 20,815 in Georgia; 12,680 in Michigan; 34,853 in New York; and 8,696 in North Carolina.
State health department employees, healthcare providers, academic institutions, community organizations, patients, and families were all important contributors to the program, and they worked closely with each other throughout the entire process.
The knowledge gained from this project could serve as the basis for the development of a patient registry that could be used to collect information about people with a hemoglobinopathy over a period of years, which would increase understanding of the characteristics of the patient population, along with their use of healthcare services and their health outcomes.

Do You Know?

Sickle cell disease (SCD) causes problems with a person’s red blood cells. Red blood cells contain a protein called hemoglobin (HEE-muh-glow-bin), which carries oxygen from the lungs to the rest of the body. Red blood cells are usually shaped like a donut with the hole filled in. For people with SCD, their red blood cells contain only abnormal hemoglobin called sickle hemoglobin. Sickle hemoglobin can cause the red blood cells to change shape from a donut to a C-shape. A sickle is a farm tool that is shaped like a “C” so the disease is named for that C-shape.

When the red blood cells are shaped like a donut, they can bounce off the walls of blood vessels like bumper cars, and they can squeeze through tiny blood vessels. However, when red blood cells are C-shaped, they get caught on the walls of tiny blood vessels, stick to one another, and can’t squeeze through.

People are born with SCD. It is an inherited life-long disease that can run in families. People with SCD inherited the gene (the instructions in the cell for making sickle hemoglobin) from both of their parents; their red blood cells can make only sickle hemoglobin so they have SCD.

Because the C-shaped red blood cells stick to each other, they don’t work as well as they should and they can form clumps inside the blood vessels. These clumps can cause severe pain and other serious problems, such as infections, organ damage, and blood vessels clogged with sickle cells in the lungs, called “acute chest syndrome.”

Thalassemia (thal-uh-SEE-mee-uh) is an inherited life-long disease that can run in families. Thalassemia occurs when the red blood cells don’t make enough of a protein called hemoglobin which carries oxygen to all of the other cells of the body. When there isn’t enough hemoglobin, the body’s red blood cells don’t function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling in the bloodstream.

When there are not enough healthy red blood cells, there is also not enough oxygen delivered to all the other cells of the body, which may cause a person to feel tired, weak or short of breath. This condition is called anemia (uh-NEE-mee-uh). People with thalassemia may have mild or severe anemia. Severe anemia can damage organs and lead to death.

When we talk about different “types” of thalassemia, we might be talking about one of two things: the specific part of hemoglobin that is affected (usually either “alpha” or “beta”), or the severity of thalassemia, which is noted by words like trait, carrier, intermedia, or major.

Hemoglobin, which carries oxygen to all cells in the body, is made of two different parts, called alpha and beta. When thalassemia is called “alpha” or “beta,” this refers to the part of hemoglobin that isn’t being made. If either the alpha or beta part is not made, there aren’t enough building blocks to make normal amounts of hemoglobin. Low alpha is called alpha-thalassemia. Low beta is called beta-thalassemia. When the words “trait,” “minor,” “intermedia,” or “major” are used, these words describe how severe the thalassemia is. A person who has thalassemia trait may not have any symptoms at all or may have only mild anemia, while a person with thalassemia major may have severe symptoms and may need regular blood transfusions.

More Information

To learn more about sickle cell disease, please visit our sickle cell disease homepage.

To obtain free resources on sickle cell disease, please visit the free materials section of our website.

To learn more about thalassemia, please visit our thalassemia homepage.