Thalassaemia forms part of the haemoglobinopathies, a group of genetic blooddisorders affecting the production of haemoglobin, when the body makes lesshaemoglobin than normal.

Blood is a red fluid freely flowing in the body, it is essential for maintaining thehealth and life of the human body. Blood is a mixture of a liquid called plasmaabout 55% and solids 45% blood cells (red blood cells, white blood cells andplatelets). Blood has various important functions such as, supplying oxygen to cellsand tissues, providing essential nutrients to cells, such as glucose, removing wastematerials, such as carbon dioxide, protecting the body from diseases and infectionsregulating body temperature. Any abnormalities, disorders and diseases of theblood can damage the many functions that the blood performs. There are variousblood disorders, such as blood clotting, blood cancers, sickle cell anaemia andthalassaemia.

People with thalassaemia produce either no or too little haemoglobin. Haemoglobiris an iron-rich protein in red blood cells. It carries oxygen to all parts of the bodyHaemoglobin is made up of four subunits: two subunits of alpha-globin and twcsubunits of beta-globin. Alpha-globin is a component of both fetal haemoglobinwhich is active only before birth and in the new-born period, and adulthaemoglobin, which is active throughout the rest of life.

Thalassaemia is inherited from parents; it is not contagious, or a virus acquirecfrom blood transfusions. It is passed on equally by men and women.

How is thalassaemia inherited?

Thalassaemia is passed from parents to children throughlaracteristic in your body, by making veryspecialised protein molecules.

It is a section of DNA, the unique molecule that makes up ylaracteristics, for example, the colour of ourur chromosomes. Genes make us who we are; they determine our chair, our height and so on.

There are two copies of a gene in each cell. Each copy is calld an allele: for everything we inherit, we get one allele from our mother and one allele from our father. In somecases, a gene can be missing, defective or altered from the uual form.This can cause disease.

In the case of a person with beta thalassaemia major, they have inherited two altered B-globin genes from their parents (one frorn the mother and one from the father).

As a result of the altered - sometimes termed mutated' geles, the person cannot produce enough B-globin, which forms partf haemoglobin. This is the substance in thered blood cell that carries oxygen.

Illustrated example:

Aisha and Hassan are thalassaemia carriers. Being a carrieris sometimes also referred to as having thalassaemia trait or thalassaemia minor.
People who are carriers are well in themselves. They areealthy and in fact they may not even know they are carriers. Butthey can pass on the altered gene to theirchildren.
A child can only get beta thalassaemia major if they get TWaltered genes - one from their father and one from their mother.Each time Aisha and Hassan have a baby, there is
     A: - 1 in 4 (25%) chance that their baby will inherit beta thalassaemia major.
     B:1 in 2 (50%) chance that their baby will be a thalassaemia carrier.
     C:1 in 4 (25%) chance that their baby will be conpletely free from thalassaemia.
have a baby. Their next child could have beta thalassaemia majolike their child Imran, be a carrier or beThese chances are the same each time Aisha and Hassancompletely free from thalassaemia.

Due to the autosomal recessive pattern of imhertance. a person lvng wit thalassaemia trait may pass the condition on to ther chidren. If both parents are living with alassaemia trait, there is a risk that their children will be carriers for thalassaemia or have thalassaemia major.

How prevalent is thalassaemia?

It used to be the case that thalasaeia was onfined to certain gegraphic regions. This is because it initaly developed as an eroltonary response to malarta; thus, itmanly atected people from malara rezions such as Asa ad Soudh East Ai. the Meditemanean. Soud ameria. the Caribbean. Northem and Centa and the MriddleEast.

If a person was a thalassaemia carrier, it appeared to give them some protection against malara. The human body had developed an efective evolutionary detence but hadnot anticipated what might happen if two carriers had children. This is where the issue arose. in the form of beta thalassaemia maior.

In fact, it is estimated that 700.00o babies. severely affected by thalassaemia, are born globally each vear.

Sadly, this underestimates the el mumber because im many poorer coutres, cases are not alwars reported. According to a publicaton written by the koyal Colege 0iObstetrics and Gymnaecologists on the management of beta thalassaemia in pregnancy,(2014) it is estimated that there are 100 million people worldwide living witthalassaemia trait (asymptomatic carriers).

Whilstit yas iitaly reraent in the reons mentioned. this is no nger the case. and anvone can be at risk Due to several soci-economic and cemographic cnangesor eamne the migaton ot mmuntes uer the entures ad the ie fnte-a fami es -thaasemia s n ongr nfn to nene fom ertam etantes.

"his is why evervone should get tested. As aid earier because ariers are generaly healthy, vou may not know if vou are a carrier unless you have the test.

The preralence of thalassaemia vares aross diferent regions in the UK Data from the review published the review published in May 201 by National theHaemoglobinoathy egistry NHR, indicates that there were 10 peode livng wth beta thaassaemia maor in the uK 250 peode living wih beta thalassaemyntermeda, 123 people ing wih eta taassaemia Hb E dsease, an 266 peole vng wt Hemogm H disease, Bac vear around 2 - 0 ou es are ident'fed sbeing at high risk for having a bay with alha thalassaemia major in the Uk. In the UK, 60% of the 1100 patients iving with beta thalassaemia major come from a SouAsian background.