WHAT IS THALASSAEMIA?

Thalasseemia is genetically inherited blood disorder charactenzed hy abnormal production of haemoglobin (lib) (eithr alpha or beta goblin hms) They result in low haemoglobin and excessive destruction of red blood cells So, Thalasseenna is not a chseese h. a disorder of en Individual.

underslantl how Thalassaemia affects the human body, you must first understand a Mlle abo. how blood is made Blood carnesoxygen from your lungs to other parts of your hotly Oxygen is comedmmtle the blood cells by a substance called haemoglobin HAEMOGLOBIN (1113) HAEMOGLOBIN Oh) is the oxygen carrying iron component of the red blood cells It consists & two different proteins, an Alpha and Pets It the hotly dosnt produce enough of either Nilese-Iwo proteins, an,. red blood cells do not form properly by hone marrow (Asthima,a) and NININ IIIyNDffcient oxygen

THALASSAEMIA MAJOR

Thalassaemia Major is a genetic, blood disorder which affects more than 1 lakh children in the country. Children suffering from this disorder cannot produce haemoglobin, which carries the oxygen that we breathe in, to the various parts of the body. These children are born with the disorder, and will survive only if given regular blood transfusions. And, the transfusions need to be given every 15 days on an average, throughout their lives.

WHAT IS THALASSAEMIA?

Thalasseemia is genetically inherited blood disorder charactenzed hy abnormal production of haemoglobin (lib) (eithr alpha or beta goblin hms) They result in low haemoglobin and excessive destruction of red blood cells So, Thalasseenna is not a chseese h. a disorder of en Individual.

underslantl how Thalassaemia affects the human body, you must first understand a Mlle abo. how blood is made Blood carnesoxygen from your lungs to other parts of your hotly Oxygen is comedmmtle the blood cells by a substance called haemoglobin HAEMOGLOBIN (1113) HAEMOGLOBIN Oh) is the oxygen carrying iron component of the red blood cells It consists & two different proteins, an Alpha and Pets It the hotly dosnt produce enough of either Nilese-Iwo proteins, an,. red blood cells do not form properly by hone marrow (Asthima,a) and NININ IIIyNDffcient oxygen

THALASSAEMIA MINOR OR TRAIT

If you have been diagnosed with the Thalassaema trait, Ns is simply another way of saying that you carry the genetictrait for Thalassaerma A genetic trart is a kind of message or code contained in your body You may pa. this code onto your children, and they may pass it on to their children You may, for instance, carry the genetic trait for blue eyes, even ilyou yourself have brown eyes Thalassaerma trait is not a disease or condition hut a kind of genetic possibility that you pass on to your descendants

The Thalassaemia trait isnot a disease.

Medical personnel often tell people who carrythe Thalassaemia trait that they 'have Thalassaema. which can lead tralt camers to believe that they have some kind of health — threatening medical ca Is not true Aledical terminology refers to the,alassaernia whlle it may be technically eared to say that trait carriers 'have lfialassaerma.(or,ore properly,"Thalassaemo mmor.),trait camers should be aware that carrying the genetictrad for Thalassaerma is not the same thing as hanng a disease.

The Thalassaemia trait requires no medical treatment .

Physicians sometimes mistakenly pres amts came, usually because., mistake the small size of the trait camels red blood cells witnron- deficiency anemia The only way to properly determine the need for iron supplements is to have a physielan test Iron levels in the patients blood. Without a test of blood iron levels, von supplements should not he prescribed for Thalassaema trait carriers.

The Thalassaemia trait cannot become worse a tun into sedous disease.

Because the Thalassaema tans a genetic trait and not a health conditionrit cannorbecome worse' or change into one of the more serious fowls of Thalassaernia that may require medical treatment.

Why should I he concemetl about the Thalassaemia trait?

Even though the Thalassaema trait has no symptoms and cannot directly affect your health, it can indirectly affect your heahh and directly affect the heahh of your children 0.1015 may mistake your Thalassaernia trait for a different condition and preserlhe unnecessary and potentially haimf ul tests or treatments.

Caste wise percentage of Thalassaemia Muter

Cast	Total Number	Beta Thalassaemia Trait	Percentage %
KACHHI BHANUSHALI	3032	452	14.90%
LOHANA	4705	809	17.20%
PATEL KANABHI	5321	639	12.00%
SHINDHI	1335	116	8.70%
KUMBHAR/SUTHAR	1287	39	3.00%
Total	15,680	2,055	13.11%

ALFA THALASSAEMIA

People who do not produce enough alpha globin protein have alpha Thalassaemia. It is commonly found in Africa, the Middle East India, Southeast Asia, Southern china, and occasionally the Mediterranean region.

Alpha globin is made by four genes, two on each strand of the chromosome 16. Individuals who have one or two abnormal alpha globin genes have alpha Thalassaemia trait.

An individual with alpha Thalassaemia trait defined by the presence of one abnormal alpha globin gene is said to have the silent carrier state. This condition, in which one of the four alpha globin genes is missing or detective, generally causes no health problems because the lack of alpha globin protein is so small that there is no anemia.

It is called “silent carrier” because of how difficult it is to detect. Silent carrier state is “ diagnosed” by deduction when an apparently normal individual has a child with hemoglobin H disease or alpha Thalassaemia minor. It can also be diagnosed by special DNA testing.

An Individual with alpha Thalassaemia trait defined by the presence of two abnormal alpha globin genes is said to have Alpha Thalassaemia Minor.

Alpha Thalassaemia Minor

n this condition, in which two of the four alpha globin genes are missing or defective, the lack of alpha globin protein is somewhat greater. Patients with this condition have smaller red blood cells and a mild anemia, although they do not experience symptoms. Physicians often mistake alpha Thalassaemia minor for iron deficiency anemia and prescribe iron supplements that have no effect on the anemia. Both abnormal alpha globin genes may be on the same chromosome (cis position) and one may be on each chromosome in the pair (transposition)

BETA THALASSAEMIA

People do not produce enough beta protein have beta Thalassaemia. It is found in people of Mediterranean descent such as Italians and Greeks, and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia and Southern china. Beta globin is made by two genes, one on each chromosome 11. Individuals who have one abnormal beta globin gene have beta Thalassaemia trait.

BETA THALASSAEMIA MINOR or BETA THALASSAEMIA TRAIT

In beta Thalassaemia trait, one of the two genes is abnormal but the lack of beta protein 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.

As in alpha thalassemia minor, 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.

WHO CARRIES THE THALASSAEMIA TRAIT?

Thalassaemia was originally believed to be common only to people of the Mediterranean region, such as Italians, Greeks and Turks. (An early name for Thalassaemia major or Cooley's anemia was Mediterranean anemia).

Since then, scientists have discovered that the Thalassaemia trait is found in people of many other regions, including the Arabian Peninsuia, Africa, the Indian subcontinent. China, Southeast Asia, and the Caribbean.

Today, due to the migration and intermarriage of different ethnic populations, the trait for Thalassaemia is found in people with no obvious ethnic connection to the disorder

THALASSAEMIA TRAIT TESTING

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

If you have a routine blood test known as a complete blood count, or CBC, already on file at your doctor’s office, ask your doctor to look at the Mean Corpuscular Volume, or MCV. The MCV reading determines the size of your red blood cells. For adults, if the MCV reading is less than 75 and you are not iron deficient, you may be a trait carrier. For children, the MCV reading may be lower and varies according to their age.

If your MCV reading indicates that you may have the Thalassaemia trait, your doctor should then perform additional tests to confirm that you have the Thalassaemia trait and to determine what kind.

Although the MCV reading is a good indicator of whether a person may have either the alpha or the beta Thalassaemia trait. Finding out or certain if you have either trait involves additional tests.

Special tests called haemoglobin electrophoresis and quantitation of haemoglobin A2 and haemoglobin F are a reliable way of determining whether or not a person has a trait for beta Thalassaemia (beta Thalassaemia minor). These tests are available at most large hospitals and clinics.

Testing for alpha Thalassaemia trait (alpha Thalassaemia minor) is usually done by a process of exclusion; people who have low MCV (not due to iron deficiency), a normal haemoglobin electrophoresis, quantitative haemoglobin A2 and quantitative haemoglobin F, and are of the appropriate ethnic origin are presumed to have alpha Thalassaemia minor.

In some circumstances, more definitive “molecular” testing is performed to determine the presence or absence of Thalassaemia trait. As these genetic tests

Remember that the first step to finding out if you have the Thalassaemia trait is easy. Just call your doctor and ask him or her to check your MCV reading. Testing for Thalassaemia can be done at most hospitals. When you go in for your test bring this book with you to share with your doctor.

PRENATAL TESTING FOR THALASSAEMIA

If you have alpha or beta Thalassaemia trait and are considering having a child or are already pregnant, your partner should be tested to see if he or she has the Thalassaemia trait. If you both have Thalassaemia trait, there are several things you can do.

Inform your obstetrician about your Thalassaemia trait. Discuss what it might mean for your unborn child. If necessary, share this book with your doctor.

If you want to determine whether your unborn child has any form of Thalassaemia, there are two kinds of tests you can request.

AMNIOCENTESIS

Amniocentesis is performed in the second trimester of pregnancy, after about 15 weeks of gestation. Using ultrasound as a guide, the doctor with draws 2-3 tablespoons of amniotic fluid from the mother’s womb through a very thin needle inserted in the mother’s abdomen. Fetal cells that are floating free in the amniotic fluid are then analyzed for the Thalassaemia mutations.

CHORIONIC VILLUS SAMPLING (CVS)

CVS can be performed somewhat earlier than amniocentesis, at about 10-11 weeks of pregnancy. In this test, the doctor removes a small sample of the chorionic villi, or the cells that will form the placenta. The cells are removed either with a thin needle inserted in the mother’s abdomen or with a thin catheter inserted in the vagina. These cells, which contain the same genetic information as the fetus, are analyzed for the Thalassaemia mutations.

If you are interested in either of these tests, ask your obstetrician to refer you to a prenatal testing cancer.