Learning About Beta Thalassemia

Hemoglobin is an iron-rich protein found in red blood cells which has the very important job of transporting oxygen to cells throughout the body.  When there is not enough hemoglobin present — as is the base with thalassemia — this can cause an array of problems. This article takes a closer look at the most common disorder in this group, beta thalassemia.

Beta Thalassemia Defined

Thalassemia is a term which refers to a group of blood disorders which all involve the body’s production of defective hemoglobin.  The condition is inherited and it causes the body to have less hemoglobin than it needs, which in turn can lead to anemia (fewer red blood cells than normal) and reduced oxygen levels throughout the body. Thousands of babies in the United States are born with this condition every year and it is considered, worldwide, to be a fairly common blood disorder.

Signs and Symptoms of this Condition

Signs and symptoms of this condition will depend on its severity, but common problems for children with this disorder include:

• Tiredness and fatigue, even with adequate sleep
• Pale skin (in people with dark skin tones, this can register as paler lips, insides of the cheeks and nail beds)
• Weakness
• Jaundice (yellowed skin) due to liver dysfunction
• Bone deformities, especially those of the skull and face
• Infant failure to thrive (poor rate of growth and development)
• Swelling in the abdomen
• Delayed puberty in teens
• Dark urine

Causes of Beta Thalassemia

Beta thalassemia is caused by mutations of the HBB gene, which gives instructions to the body to produce beta-globin, an important component of hemoglobin.  This is what leads to having less hemoglobin than is normal.  This condition is inherited, which means that it is passed down from one or both parents to their child, who is born with the mutation.

Types of Beta Thalassemia

There are two different types of beta thalassemia:

• Beta thalassemia minor (also called beta thalassemia trait) means that the child has one mutated gene. A child with this condition will have mild signs and symptoms such as minor anemia but is generally considered to otherwise be happy.
• Beta thalassemia major (also called Cooley’s anemia) means that a child has two defective HBB genes and although children with this condition are born healthy, they develop signs and symptoms by age 2. These symptoms are much more severe than those in beta thalassemia minor and it is considered to be a significant illness.

Risk Factors for This Disorder

Children are at greater risk for being born with disorder if they:

• Have one or both parents who are carriers for this disease
• Are of Mediterranean, Middle Eastern, African or Asian heritage

Complications

One of the most difficult aspects of beta thalassemia is its potential for serious complications, including any of the following:

• Liver damage, due to too much iron in the system
• Spleen enlargement, due to too much pressure on the spleen to function with too few red blood cells; if this happens, it will sometimes have to be removed
• Increased risk for infections if spleen has been removed; the spleen is an important part of the immune system
• Damage to the heart due to too much iron; this damage can lead to heart failure or irregular heartbeat (arrhythmias).
• Bone deformities due to bones the widen as the bone marrow expands

How Beta Thalassemia is Diagnosed

Diagnosis of this disorder will be based on:

• Patient signs and symptoms
• A physical exam
• A study of a person’s red blood cells; in someone with this condition, they will appear to be pale, small, fewer in number than normal and some will have abnormal shapes.
• Other blood work to look at the child’s levels of iron and hemoglobin
• A DNA analysis to look for gene mutations

Treatment for Beta Thalassemia

For beta thalassemia minor, not treatment other than observation is generally required and iron supplements are not recommended due to the danger of iron overload.

For beta-thalassemia major, treatment can involve any of the following:

• Exhale, an oral medication to help remove excess iron from the system and prevent damage to the heart, liver and spleen
• Blood transfusions, which can be frequent if the condition is severe
• Bone marrow transplant; because of the long-term problems associated with this procedure, it is only used as a last resort and only if there is a matched donor such as a sibling

At-Home Support

There are some things which parents can do at home to help support their child if they have this condition. This includes:

• Eat a healthy, balanced diet
• Be sure you have an adequate intake of folic acid, calcium and Vitamin D, all of which support good bone health
• Avoid any supplements with iron (again, this will help reduce the chances of iron overload)
• Teach your child ways to avoid getting infections, such as good hand washing and not sharing items like cups or spoons with friends at school.

In brief, this condition can be mild or serious depending on the number of mutated genes that a child is born with.  However, even for children will the more severe form of this blood condition, there are treatment options available to help prevent complications and to allow the child to live a healthy, normal life.