Thalassemia

by
DR. Mubashir Rashid
Introduction
 Thalassemia is an inherited blood disorder characterized by abnormal hemoglobin
production.
 It is characterized by a decreased synthesis of globin chain.
 Normal person hemoglobin is hemoglobin A which represent aprox 98% of
circulating hemoglobin.
 Hemoglobin A is formed by 2 alpha and 2 beta chains.
Types of Thalassemia

Alpha Thalassemia
 It occurs due to reduction or absence of alpha chain synthesis.
 There are four alpha genes:
 If one gene is deleted there is no clinical effect.
 If two genes are deleted (alpha thalassemia minor or trait) there id microcytosis
with or without mild anemia.
 If three genes are deleted paitent has hemoglobin H disease (HbH is functionally
useless). There is moderate anemia and splenomegaly.
 If All four genes are deleted there is no Alpha chain synthesis only Hb Barts is
present which can not carry oxygen.
 Beta Thalassemia
 Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-
containing protein in red blood cells that carries oxygen to cells throughout the body.

 In people with beta thalassemia, low levels of hemoglobin reduce oxygen levels in the body. Affected individuals
also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious
complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots.

 Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major (also
known as transfusion-dependent thalassemia or Cooley's anemia) and thalassemia intermedia (which is a non-
transfusion-dependent thalassemia). Of the two types, thalassemia major is more severe.
 Beta Thalassemia
 The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-
threatening anemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop
yellowing of the skin and whites of the eyes (jaundice). Affected individuals may have an enlarged spleen, liver,
and heart, and their bones may be misshapen. Puberty is delayed in some adolescents with thalassemia major.

 Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to
replenish their red blood cell supply. Over time, an influx of iron-containing hemoglobin from chronic blood
transfusions can lead to a buildup of iron in the body, resulting in liver, heart, and hormone problems.

 Thalassemia intermedia is milder than thalassemia major. The signs and symptoms of thalassemia intermedia
appear in early childhood or later in life. Affected individuals have mild to moderate anemia and may also have
slow growth, bone abnormalities, and an increased risk of developing abnormal blood clots.
Thalassemia Causes and Risk Factors

 Thalassemia is genetic. It happens when you inherit mutated genes from your
parents that change your hemoglobin. You have it from birth. You can’t catch
thalassemia the way you catch a cold or the flu.

 If both of your parents carry thalassemia, you might get it. If you inherit two or
more copies of abnormal genes from your parents, you may get mild to severe
thalassemia, depending on what type of protein is affected. It’s more common in
people from Asia, Africa, the Middle East, and Mediterranean countries like
Greece or Turkey.
Thalassemia Symptoms

 Slow growth in children

 Wide or brittle bones
 Enlarged spleen (an organ in your abdomen that filters blood and fights
disease)
 Fatigue
 Weakness
 Pale or yellow skin
 Dark urine
 Poor appetite
 Heart problems
Thalassemia Diagnosis

you’ll take blood tests. One is a CBC (complete blood count) test. The other is a hemoglobin
electrophoresis test.
If you are pregnant or trying to have a baby, you can have tests to learn if your baby will have the
condition.

Genetic testing can show if you or your partner carries any of the genes that cause thalassemia.
Chorionic villus sampling tests a tiny piece of the placenta to see if a baby has the genes that cause
thalassemia. Doctors usually do this test around the 11th week of pregnancy.
Amniocentesis tests the fluid around an unborn baby. Doctors usually do this test around the 16th
week of pregnancy.

If you do have thalassemia, you should see a blood expert known as a hematologist. You may also
need other special doctors on your team, like those who treat the heart or liver.
Thalassemia Treatment and Home Care

 If you have thalassemia, follow these habits to stay well:

 Eat a healthy diet to keep your bones strong and give you energy.
 If you get a fever or feel ill, see your doctor.
 Stay away from sick people and wash your hands often.
 Stay up to date with vaccines.
 Ask your doctor about supplements like calcium and vitamin D.
 Don’t take iron pills.
Treatment

 Treatment might include:

 Blood transfusions. A transfusion is a way to get donated blood or parts of blood

that your body needs, like hemoglobin. How often you need transfusions can vary.
Some people have one every few weeks. Your transfusion schedule may change as
you get older.
 Chelation therapy. Blood transfusions are important for people with thalassemia.
But they can cause too much iron in the blood. That can lead to problems with the
heart, liver, and blood sugar. If you get transfusions, you and your doctor will talk
about whether you need medicine that can help remove extra iron from your body.
 Stem cell or bone marrow transplant. An infusion of stem cells from a matched
donor can sometimes cure thalassemia.
 Supplements. In some cases, your doctor might recommend that you take extra
folic acid or other supplements.
 Surgery. Some people with thalassemia may need their spleen removed.

 Sometimes, blood transfusions cause reactions like a high fever, nausea, diarrhea,
chills, and low blood pressure. If you have any of these, see your doctor. Donated
blood in the U.S. is very safe. But there’s a remote chance that you could get an
infection from a blood transfusion.

 Work closely with your doctor, and keep up with your treatments.
Thalassemia Complications

 Iron overload. Too much iron can damage your heart, liver, and endocrine system.
 Bone changes. Your bones may become thin and brittle. And the bones in your face can
look out of shape or distorted.
 Slowed growth. You may be shorter than others because your bones don’t grow
normally. Puberty may be delayed.
 Enlarged spleen. Your spleen filters old or damaged blood cells. If you have thalassemia,
your spleen might have to work too hard. Sometimes a doctor may need to remove it. If a
doctor has to remove your spleen, you will be at higher risk for infection.
 Heart problems. Thalassemia increases your risk for congestive heart failure and
abnormal heart rhythms.

 These problems don’t happen to everyone who has thalassemia.

Thalassemia Prevention

 You can’t prevent thalassemia, since it’s in your genes.

 If you have it and you want to have children, you might want to talk with a
genetics counselor. This is an expert in health issues that are passed down through
families. The counselor will explain your chance of having a child with
thalassemia.

 If you and/or your partner carry thalassemia and your future children will be at
risk, it’s possible to make sure they won’t have it with in vitro fertilization (IVF).
A doctor will test the embryos before choosing which to implant.