By: James Harper, MD, FAAP
Alpha and Beta thalassemias are common inherited forms of anemia that affect millions of people around the world. Most people have a mild form of thalassemia without any problems, while others have more severe but rare forms that need medical help.
Your baby's newborn screening, a simple blood test taken from pricking the baby's heel within 2 days of age, is able to detect some forms of thalassemia.
Read on to learn more about thalassemia and how to work with your baby's doctor to provide the best care for your child.
What are alpha thalassemia and beta thalassemia?
Thalassemias are a group of health conditions that cause anemia or lower than normal red blood cells in the body. The anemia results from your body making less hemoglobin, the protein in the red blood cell that carries oxygen to the body.
Normal hemoglobin is made up of two different proteins chains called alpha globin and beta globin. In people with thalassemia, either the alpha globin chains are decreased, resulting in alpha thalassemia—or the beta globin chains are decreased, resulting in beta thalassemia.
What are the different forms of alpha thalassemia?
Alpha thalassemia comes in four forms with different degrees of health problems depending on how many of the four alpha globin genes are missing. The forms and severity of health issues do not change during a person's lifetime.
Alpha thalassemia silent carrier
Babies who are born with one missing alpha globin gene have a very mild form of alpha thalassemia called "silent carrier." Babies with this form do NOT have health problems.
Alpha thalassemia trait (or alpha thalassemia minor)
Babies who are born with two missing alpha globin genes have a mild form called "alpha thalassemia trait or alpha thalassemia minor." Babies with this condition do NOT have health problems. They will have small red blood cells with or without mild anemia.
Since the red blood cells in babies with this condition look similar to red blood cells found in babies with iron deficiency, it is important for your child's doctor to know when to test for and treat iron deficiency.
Hemoglobin H disease
Babies who are born with three missing alpha globin genes have a rare, moderate to severe condition called "hemoglobin H disease." Babies with this condition have moderate to severe anemia and may need blood transfusions at different times throughout their lives. Contact your doctor if your child is experiencing any of or worsening of the signs or symptoms of moderate to severe anemia listed below.
Alpha thalassemia major
Babies who are born with all four missing alpha globin genes have "alpha thalassemia major" or hydrops fetalis. This very rare, life-threatening condition results in fetuses or babies who often die due to very severe anemia despite intensive medical care.
What are the different forms of beta thalassemia?
Beta thalassemia comes in three forms with different degrees of health problems depending on one or two beta globin genes mutations. The forms do not change during a person's lifetime.
Beta thalassemia trait (or beta thalassemia minor)
Babies with this condition will have small red blood cells with mild anemia. Since the red blood cells in babies with beta thalassemia trait look similar to red blood cells found in babies with iron deficiency, it is important for your child's doctor to know when to test for and treat iron deficiency.
Beta thalassemia intermedia
This is a moderate form called "beta thalassemia intermedia" or "non-transfusion dependent beta thalassemia. Babies with this condition have small red blood cells with mild to moderate anemia rarely needing blood transfusions. Contact your doctor if your child is experiencing any of the signs and symptoms of moderate to severe anemia listed below.
Beta thalassemia major (or transfusion-dependent beta thalassemia)
Babies born with both beta globin genes altered may have a severe form called "beta thalassemia major" or "transfusion-dependent beta thalassemia." Babies with this serious condition will require blood transfusions every 2-6 weeks beginning within weeks after birth to maintain life.
Mutations that result in the body making NO beta globin chains result in the most severe form often labeled as "Beta -zero (β0) thalassemia" or "Cooley's anemia". Mutations that allow a small amount of beta globin chains to be made are labelled "Beta-plus (β+) thalassemia" and tend to need less frequent blood transfusions.
It is important to know that beta thalassemia can be inherited along with other mutations in the beta globin genes that affect the body in more severe ways such as sickle cell disease.
What are the signs and symptoms of moderate and severe anemia?
Signs and symptoms of moderate and severe anemia may include:
- Pale or yellow skin and eyes
- Orange or darker urine (from red blood cell break down)
- A large spleen, liver or heart (organs inside the body that keep the body healthy)
- Poor appetite and feeling tired
- Slow growth and delayed puberty
- Excess growth and thinning of bones
What are the treatments for moderate and severe thalassemia?
Treatments for moderate and severe thalassemias are constantly improving and are best managed by pediatric hematologists. In addition to life-saving blood transfusions, iron needs to be removed from the body with medications called iron chelators, and vitamins such as folic acid are given help improve health.
New advances in stem cell transplantation and gene therapies are yielding promising results as potential cures.
Remember
Alpha and beta thalassemia detected on a newborn screen can vary in severity and in form. Your doctor can arrange for the appropriate referrals to a pediatric hematologist and genetic counsellor.
More information
About Dr. Harper
James Harper, MD, FAAP is a board-certified pediatric hematologist who is a member of the Section Of Hematology Oncology (SOHO) and is a member of the Executive and Communications Committees of SOHO. He is an associate professor at the University of Nebraska Medical Center in Omaha, Nebraska.
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