Beta thalassemia is an inherited blood
disorder in which the body doesn't make hemoglobin normally. Hemoglobin is the part
of red blood cells (RBCs) that carries oxygen throughout the body. The abnormal hemoglobin
can lead to anemia (not enough
RBCs in the body) and other medical problems.
Depending on the type of beta thalassemia, symptoms can be mild or very severe.
There are treatments that can help with symptoms.
What Are the Different Types of Beta Thalassemia?
The three types of beta thalassemia (BAY-tuh thahl-uh-SEE-mee-uh) are:
Beta thalassemia minor (also called beta thalassemia
trait). People with beta thalassemia minor may have mild anemia, but usually
don't need any medical treatment.
Beta thalassemia intermedia. People with beta thalassemia intermedia
have moderately severe anemia and some will need regular blood
transfusions and other medical treatment. The blood transfusions deliver healthy
hemoglobin and RBCs to the body.
Beta thalassemia major (also called Cooley's anemia).
People with beta thalassemia major have severe symptoms and life-threatening anemia.
They need regular blood transfusions and other medical treatment.
What Are the Signs & Symptoms of Beta Thalassemia?
People with beta thalassemia trait usually do not have any symptoms.
Children with beta thalassemia intermedia or major may not show any symptoms at
birth, but usually develop them in the first 2 years of life. They may have symptoms
of anemia, such as:
tiredness
shortness of breath
a fast heartbeat
pale skin
yellow skin and eyes (jaundice)
moodiness
slow growth
People with beta thalassemia major or intermedia usually have a buildup of iron
in the body, either from the disease itself or from the repeated blood transfusions.
Excess iron can damage the heart,
liver, and endocrine system.
People with beta thalassemia major may have other serious health problems, including:
bone deformities and broken bones from changes in the bone marrow (where RBCs
are made)
an enlarged spleen
because the organ works harder than normal. Doctors might need to remove the spleen
if it gets too big.
infections, especially if doctors removed the spleen (the spleen helps fight some
infections)
What Causes Beta Thalassemia?
Hemoglobin is made of two alpha proteins and two beta proteins. A gene change (mutation)
in the alpha proteins causes alpha
thalassemia. A gene change in the beta proteins causes beta thalassemia.
In beta thalassemia, the gene change causes an imbalance of hemoglobin proteins.
The imbalance causes anemia because:
Red blood cells break down faster than normal.
Fewer RBCs are made.
Less hemoglobin is made.
The imbalance also leads to medical problems in the bones, bone marrow, and other
organs.
Who Gets Beta Thalassemia?
People inherit the genes
for beta thalassemia from their parents. A child gets one beta protein gene from the
mother and one from the father:
Someone who inherits the gene change in the beta protein from one parent has beta
thalassemia minor (beta thalassemia trait).
Someone who inherits a gene change in both beta proteins (one from each parent)
has beta thalassemia intermedia or beta thalassemia major (Cooley's anemia).
Sometimes a beta thalassemia gene change can be inherited with a sickle cell gene
change. This results in sickle beta thalassemia, a type of sickle
cell disease. A genetic
counselor can help families understand the different ways beta thalassemia runs
in families.
How Is Beta Thalassemia Diagnosed?
If a woman is pregnant and both parents have beta thalassemia trait, doctors can
check the fetus by:
Amniocentesis:
Usually done about 16 weeks into the pregnancy, this involves removing a sample of
the fluid that surrounds the fetus to check for signs of problems.
Young children may be diagnosed with a blood test if they develop anemia, have
a swollen belly (from an enlarged spleen), or have poor growth. The blood tests include
one or both of these:
Treatment depends on what kind of beta thalassemia someone has.
Kids with beta thalassemia trait usually don't need treatment.
Children and adults with beta thalassemia major need lifelong medical care that
includes:
regular blood transfusions about every 2-4 weeks
medicines to remove extra iron from their bodies (called chelation)
People with beta thalassemia intermedia may need blood transfusions and chelation
(key-LAY-shun) but not as often as people with beta thalassemia major.
Blood transfusions and chelation do not cure beta thalassemia. A stem
cell transplant can cure it, but it is a serious procedure with many risks and
won't benefit everyone with the condition. Doctors and scientist are working on developing
gene therapies and other
treatments to help people with beta thalassemia.
How Can Parents Help Kids With Beta Thalassemia Trait?
A child who has beta thalassemia trait doesn't need any special care. Your child
may want to talk to a genetic counselor someday to understand how beta thalassemia
runs in families.
Be sure to tell all health care providers that your child has beta thalassemia
trait. This way, when the mild anemia shows up on blood tests, the providers will
know the cause.
How Can Parents Help Kids With Beta Thalassemia Intermedia or Major?
Children with beta thalassemia intermedia or major need lifelong medical care.
With regular health care, kids with beta thalassemia intermedia and major can live
well into their 50s. The best way for your child to live his or her healthiest life
is to get regular medical care, which includes transfusions and chelation.
It is important to establish a health care team for your child. If you live near
a Thalassemia Treatment Center, the center will help you put the
team together. The team should include:
a hematologist (a doctor who specializes in blood disorders)
doctors to treat problems from iron overload, including:
an
(a doctor who specializes in organs that make hormones)
a
(heart doctor)
a gastrointestinal doctor (a doctor who specializes in the digestive tract)
an infectious disease doctor to help treat any infections
a dietitian to help with meal planning and any vitamin supplements that are needed
a primary care doctor to help with routine care
a case manager (a nurse or other provider who coordinates your child's medical
care)
a social worker to help with insurance information and your child's schooling,
and to support you, your child, and your family
a psychologist to help caregivers and your child cope with thalassemia
What Else Should I Know?
If your child has beta thalassemia intermedia or beta thalassemia major, it can
be a challenge for your family to manage the medical care and the thoughts and feelings
that come with the illness. It can help to:
Find support through:
your child's care team, especially the social worker or psychologist
other families who have a child with beta thalassemia
friends and family
Help your child see the opportunities he or she has, not the limitations.
Manage your own stress level by taking care of yourself and doing things that
you enjoy.
Include siblings of the child with thalassemia. Show them that they can have a
role, such as keeping their sibling company during transfusions or just being there
to listen.
You also can learn more about beta thalassemia online at:
