Alpha Thalassemia (cont.)
Complications of Thalassemias
Better treatments now allow people who have moderate and severe thalassemias
to live much longer. As a result, these people must cope with complications of
the disorder that occur over time.
Heart and Liver Disease
Regular blood transfusions are a standard treatment for
thalassemias. As a result, iron can build up in the blood.
This can damage organs and tissues, especially the heart and liver.
Heart disease caused by iron overload is the main cause
of death in people who have thalassemias. Heart disease includes
heart failure,
arrhythmias (irregular heartbeats), and heart attack.
Infection
Among people who have thalassemias, infections are a key cause of illness and
the second most common cause of death. People who have had their spleens removed
are at even higher risk, because they no longer have this infection-fighting
organ.
Osteoporosis
Many people who have thalassemias have bone problems, including
osteoporosis
(OS-te-o-po-RO-sis). This is a condition in which bones are weak and brittle and
break easily.
How Are Thalassemias Diagnosed?
Doctors diagnose thalassemias using blood tests,
including a complete blood count (CBC) and special hemoglobin tests.
- A CBC provides information about the amount of hemoglobin and the different
kinds of blood cells, such as red blood cells, in a sample of blood. People who
have thalassemias have fewer healthy red blood cells and less hemoglobin in
their blood than normal. People who have alpha or beta thalassemia trait may
have smaller than normal red blood cells.
- Hemoglobin tests measure the types of hemoglobin in a blood sample. People
who have thalassemias have problems with the alpha or beta globin protein chains
of hemoglobin.
Moderate and severe thalassemias usually are diagnosed in early
childhood. This is because signs and symptoms, including severe anemia, appear
within the first 2 years of life.
People who have milder forms of thalassemia may be diagnosed after a routine
blood test shows they have anemia. Doctors suspect thalassemia if a child has
anemia and is a member of an ethnic group that's at increased risk for
thalassemia.
Doctors also do tests on the amount of iron in the blood to find out whether
the anemia is due to iron deficiency or thalassemia. Iron-deficiency anemia
occurs when the body doesn't have enough iron to make hemoglobin. The anemia in
thalassemia occurs because of a problem with either the alpha globin chain or
the beta globin chain of hemoglobin, not because of a lack of iron.
Because thalassemias are passed on from parents to
children, family genetic
studies also can help diagnose the disorder. This involves taking a family
medical history and doing blood tests on family members to show whether any have
missing or altered hemoglobin genes.
If you know of family members who have thalassemias and you're thinking of
having children, consider talking with your doctor and/or a genetic counselor.
They can help determine your risk for passing on the disorder to a child.
If you're expecting a baby and you and your partner are thalassemia carriers,
you may want to consider prenatal testing.
Prenatal testing involves taking a
sample of amniotic fluid or tissue from
the placenta. (Amniotic fluid is the fluid in the sac surrounding a growing
embryo. The placenta is the organ that attaches the umbilical cord to the
mother's womb.) Tests done on the fluid or tissue can show whether your baby has
thalassemia and how severe it's likely to be.
Next: What are the treatments for thalassemias? »
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