If you are wondering what is Thalassemia, well, Thalassemia is an inherited autosomal recessive blood disorder due to the absence or reduced synthesis of globin chain in the hemoglobin, aka, Hemoglobinopathies. This would result in formation of abnormal haemoglobin molecules and causes anemia.
Allow me to explain in more simple terms. There are 3 types of Thalasemia: Thalasemia Major, Thalasemia Intermedia and Thalasemia Minor. People who are Thalasemia Major will have symptoms of severe anemia within their first year of life will suffer from failure to thrive and do not growth normally. In fact, if untreated, it can cause born deformities, osteoporosis, enlargement of liver and spleen, repeated infection and eventually lead to death within the first 10 years of life.
Therefore, these children require life long blood transfusion. However, blood transfusion alone is inadequate, as their body would suffer from iron overload, and they suffer complications from the treatment itself. Cardiac complications were reported to cause 71% of deaths in patients with thalassemia major. (Dudley J. Pennell, American Society of Hematology, 2004) Therefore, iron chelation therapy, or desferrioxamine is needed to reduce the iron overload. Desferrioxamine given via subcutaneous route at a dose of 35-40gm/kg costing RM12- RM17 a vial of 500mg. It is estimated that a patient would pay about RM700 per month for the iron-chelation therapy.
In more simple terms, if you have Thalassemia Major, you have life long complications, with life long blood transfusion and desferrioxamine therapy, and more importantly, all this comes with a very expensive price.
Thalasemia babies can be screened via antenatal screening, to identify these babies. However, abortion is illegal in our country, and I have seen couples who had one Thalassemic child after another.
And the sad story is…
- In Malaysia, less than 20% of patients receive adequate iron chelation therapy. (because of the financial burden, logistic problems, etc)
- The majority are ‘destined’ to die in the second or third decade of life from complications of multiple organ failure secondary to iron overload. In other words, even if they were treated, and even if they were compliance to medication, they would die anyway, somewhere in their thirties, from complications of the treatment. sad, isn't it?
Kudos to our government who had allocated RM49.4 million for a 4-point, comprehensive program that covers:
- The provision of free iron chelation for all children with thalassaemia
- A population-screening programme to detect and counsel thalassaemia carriers
- A public education programme to increase awareness of thalassaemia through campaigns, the mass media, school programs and others; and
- A National Thalassaemia Registry.
Now you would ask : Is Thalassemia common?
- According to Datuk Liao Tiong Lai on May 29, ‘Currently, there are 3591 registered Thalassemia patients, and it is estimated that one in 20 Malaysians is a carrier.’
- About 4.5% of the people in Malaysia are heterozygous carriers for beta-thalassemia and the couples are at risk of producing a child with beta-thalassemia major where affected births annually would be 2.1/1000. (Beta-Thalassemia Major in Malaysia, an on-going Public Health Problem E George, FRCPE, Medical Faculty, Universiti Putra Malaysia)
So, you can deny everything, but you cannot run from epidemiology. (YES, it is common!)
Selected high schools and collages have been educated about Thalassemia and relevant public health issues and how to prevent it. The simple diagram below shows how Thalassemia is genetically transmitted.
According to this diagram, if both parents are Thalassemia carriers, they have 25% probability to have offsprings who are Thalassemia Major, 50% Thalassemia carriers and 25% normal.
According to this diagram, if both parents are Thalassemia carriers, they have 50% probability to have offsprings who are Thalassemia carriers and 50% normal, thus NO risk of Thalasemia Major offsprings.
Thalassemia carriers can present asymptomatic, without any health problems, therefore, many carriers are not identified and undetected.
So logically, if you have family members who are known Thalasemia, you should be screened for Thalassemia, as well. And if you happened to be a Thalassemia carrier, you should screen you potential partner or boyfriend before you fall madly in love and into the i-can’t-live-without-you state..
So if you can prevent Thalassemia from happening altogether, you can prevent you child from having the illness, save the whole lot of money, and relief the country from the financial burden.
Take home message :
Match your blood before you match your horoscope for marriage