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What is thalassemia trait ?

If you have been diagnosed with the thalassemia trait, this is simply another way of saying that you carry the genetic trait of thalassemia

A genetic trait is a kind of message or code contained in your DNA.You may pass this code on to your children, and they may pass it on to their children.

You may, for instance, carry the genetic trait for blue eyes, even if you yourself have brown eyes.

Thalassemia trait is not a disease or condition but a kind of genetic possibility that you pass on to your descendants.

The thalassemia trait is not a disease.

Medical personnel often tell people who carry the thalassemia trait that they “thalassemia” which can lead trait carriers to believe that they have some kind of helath-treatening medical condition. This is not true.

Medical terminology  refer to the thalassemia trait as “thalassemia minor”. So while it maybe technically correct to say that trait carriers “have thalassemia”(or more properly. “Thalassemia minor”) trait carriers should be aware that carrying the genetic trait for thalassemia is not the same thing as having a disease.

What is thalessemia?

Thalassemia is name of group of genetic blood disorders.

To understand how thalassemia affects human body, you must understand a little about how blood is made.

Blood carries oxygen from your lungs to other parts of your body. Oxygen is carried inside the red blood cells by a substance called hemoglobin.

Hemoglobin is made up of 2 different kinds of proteins called alpha and beta globins. These proteins are made by gene located on pair of chromosomes. If one ore more of these globin-producing genes is abnormal or missing, there is drop in globing production.

There are 2 beta globin genes and 4 alpha globin genes.When only one beta globin gene or one or two alpha globin genes are missing the drop in globin production is so small it rarely affects the person’s health.

But when two beta or three alpha genes are missing, the drops in globin production is so severe that red blood cells do not form properly and the blood cannot carry enough oxygen. The result is anemia that begins in early childhood and lasts throughout life. When all four alpha genes are missing, result is usually death in womb.

Type of Thalassemia  :2 types  alpha and beta.

Alpha thalassemia

 

Silent carrier state:   one globin gene is missing or abnormal causing no health problem.

Alpha thalassemia minor:  2 apha globin gene are absent or abnormal it causes mild drop in hemoglobin . Also called alpha thalssemia trait.

Alpha thalssemia Major : When 3  or 4 alpha globin genes are absent there is a 25% chance with each pregnancy that their child will be born with hemoglobin H disease in which three of the four alpha globin genes are abnormal. In this condition, the lack of alpha protein is great enough to cause moderate to severe anemia and may cause serious health problems such as an enlarged spleen, bone deformities and fatigue.

Beta Thalassemia:

 

Beta Thalessemia trait/minor

In beta thalassemia trait, one of the two beta globin genes is abnormal but the lack of beta globin is not great enough to cause problems in the normal functioning of the hemoglobin. A person with this condition simply carries the genetic trait for beta thalassemia and will usually experience no health problems other than a mild anemia. Physicians often mistake the small red blood cells of the person with beta thalassemia minor as a sign of iron-deficiency anemia and incorrectly prescribe iron supplements that have no affect on the anemia.

Beta thalaseemia major :

 If both beta genes are absent then there is a 25% chance with each pregnancy that their child will inherit two abnormal beta globin genes. In its most severe form, this may cause beta thalassemia major or Cooley’s anemia, a blood disorder in which the lack of beta globin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care. Lifelong transfusions lead to iron overload which must be treated with chelation therapy to prevent early death from organ failure. In a somewhat milder form, the inheritance of two abnormal beta globin genes may cause beta thalassemia intermedia, in which the lack of beta globin in the hemoglobin causes a moderately severe anemia and significant health problems including bone deformities and enlargement of the spleen. Due to the wide range in severity of this condition, the borderline between thalassemia intermedia and thalassemia major can be confusing. When a patient is dependent on blood transfusions, he is likely to be classified as thalassemia major.

Thalassemia have trait testing

Finding out if you have genetic trait for thalassemia begins by determining the size of your red blood cells

  1. Complete Blood Count (CBC)

           Look at Mean corpuscular Volume (MCV)  is below 80 and your Hb is slightly lower than Normal , You may have thalassemia trait.

If your MCV reading indicate that you may have the thalassemia trait , your doctor should then perform additional test to confirm trait.

2.Hemoglobin A2  (HBA2)

             Value higher than normal confirms that you have thalasemia trait. If you have any doubt consults your doctor.

All member of our community should be investigated before marriage. If they found to be having trait then their future partner should also investigate for trait. There are 25% chances that their child will be born with thalassemia major.

Prenatal Testing for thalassemia

       If you have thalassemia,   your partner  should be tested to see if he or she has the thalassemia trait. If you both have thalassemia trait, then there are 25% chances that you child will have thalassemia major so there are several things you can do…

Inform your gynecologist about your thalassemia. There are two kinds of tests you can request…a) Amniocentesis                    b) Chorionic villi sampling (CVS)

a)      AMNIOCENTESIS:

Amniocentesis is done in the 2nd trimester of pregnancy, after 15 weeks of gestation. Using ultrasound as a guide, the doctor draws small amount of amniotic fluid from mother’s womb through a very thin needle inserted in the mother’s abdomen. Fetal cells in the flid are then analysed for the thalassamia.

b)      CHORIONIC VILLI SAMPLING (CVS)

CVS can be performed earlier in 10-11 weeks of pregnancy. The doctor removes small sample of chorionic villi or the cells that form placenta. These cells are then analysed for thalassemia.

For these tests, ask your gynecologist to refer you to prenatal testing center.

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