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Thalassamia – A Blood Disorder September 12, 2006

Posted by Gaurav Dhiman in About Thalassamia.
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As I talked about Thalassamia, a blood disorder, in my second blog, I am going to elaborate on the same in this blog entry. Mentioned in my second blog that my brother suffers from Thalassamia, a blood disorder, hence I have a very strong reason to make people aware of it. It is not a desease, which can be cured, rather I would say this is not at all a desease. It’s a blood disorder, the cause of which is a genetic reason. Definitely thalassemia can be prevented and for that parents should be educated about this. This article might help in education some people about thalassamia, to the extent I know about it.

Thalassaemia which is a blood disorder by birth and every responsible parent should be aware of it in advance before planning a family. I am aware of thalassaemia as my brother is thalassaemia major patient. I think I should share my knowledge about this so that more people become aware of it and its cause, which might in some manner result in decrease in thalassaemia major cases in future. After reading this blog, please forward the link to it to all your known ones, so that maximum number of people can be aware of this blood disorder and can prevent it from happening.

Thalassaemia (a blood disorder by birth) is highly previlent in south-eastern countries like India, Pakistan, Sri Lanka etc. This blood disorder can be prevented but can not be cured, so prevention is the only thing that we can do about it. Thalassaemia can be broadly divided in two catagories, one as thalassaemia major and another as thalassaemia minor.

Thalassaemia major is a condition in which person have to go for regular blood tranfusions once every month though out his/her life. This regular tranfusion of blood leads to other complications like deposition of iron on other internal organs of the body, like kidney, heart etc, resulting in their damage with time. To avoid this deposition of blood on internal organs thalassaemia major person have to take some other medicines for whole of their life.

Thalassaemia minor on other hand is a condition in which person leads a normal life (without any blood transfusions), but do carry the thalassaemmia traits in their genes, which might result that their children are also thalassaemmia minor or major as explained in detail below.

As most of us are not aware of thalassaemmia, so we do not take this that seriously. I think we all should be aware of it to prevent it in our children. Majority of us are thalassaemmia minor carriers, whithout we even being aware of it. We only come to know about it if we deliberately go for thalassaemmia blood screening or if we give birth to thalassaemmia major child (which is too late, we could have prevented it).

Before getting married, do go for proper blood screening for thalassamia traits in both the partners. Here is the brief about these traits, for more in detail you can read at the links given at the end of this blog entry or this PDF file.

Here is the genetic cause of thalassaemmia, read about it, we all need to be aware of it, atleast all responsible parents should be aware of it.

In our DNA, we have haemoglobin chain genes. Faulty haemoglobin chain genes are represented by ‘r’ and correct haemoglobin chain genes are represented by ‘R’. A parent can have any combination of this, I mean ‘rr’, ‘rR’, ‘Rr’ and ‘RR’. Thalassaemia major is the case of ‘rr’, when both chains are faulty, in this case the person need to go through regular blood tranfusions through out his/her life as the red blood cells generated in body are week (basically saying then they are improper in shape) and do not have longer life, resulting in decrease in Haemoglobin, this is known as Thalassaemia major blood disorder and it happens from birth. To avoid this situation both parents should screen their blood before marriage. Both ‘rR’ and ‘Rr’ are known as minor Thalassaemia carriers, these people lead their life normally, but do carry the thalassaemmia traits, so their children will also carry this trait. Its normal to have thalassaemia minor. Most of us might be thalassaemia minors, but might not be aware of it. We come to know about it only when we screen test our blood for thalassaemia traits or give birth to thalassaemia major child. Giving birth to thalassaemia major child can only happen if both parents are thalassaemia minor of same type (alpha or beta) or if one of the parent is thalassaemia major and another is thalassaemia minor.

Following are the possible gene combination for a child:

– If parents are RR (both parents do not carry thalassaemia traits) – child can have only rr (without thalassaemia traits, perfectly ok)

– If both parents are rR or Rr (anyway) – child can be either rr, rR, Rr or RR. This means 25% chances are that child will be without thalassaemia traits (perfectly ok), 50% chances are there that child will be thalassaemia minor and 25% chances are that child will be thalassaemia major (this happens only if both parents are carrier of same thalassaemia type, either alpha or beta. If both are of different type child will never be thalassaemia major).

– If both parents are rr – child will always be thalassaemia major, because child will always have rr combination of genes, which is a thalassaemia major, means both genes chains are faulty.

– if one parent is rr and another is rR or Rr (this means one parent is major and another is minor) – child can be either rr, rR or Rr. This means, there is 50% chances that child can be thalassaemia major and 50% chances that child can be thalassaemia minor. It not possible in this case that child is without thalassaemia traits.

– if one parent is RR and another is rR or Rr (this means one parent is without any thalassaemia trait and another is with minor thalassaemia trait) – child can be either RR, Rr or rR. This means, there is 50% chances that child is perfectly ok (without thalassaemia traits) and 50% chances that child can be thalassaemia minor. It not possible in this case that child can be thalassaemia major.

– if one parent is rr and another is RR (one parent is without thalassaemia traits and another is thalassaemia major) – child can be either rR or Rr, means always be thalassaemia minor.

After explaining all genetic these details, let me tell you that the point of concern is thalassaemia major as in that case child have to go through regular blood tranfusions through out the life and its a major pain for them to have it for whole life and its just because parents were unaware of this blood disorder or the cause of it. Moreover thalassaemia major people face other medical problems also because of their regular blood transfusions, problems like spleen enlargement, with time problems in heart or kidney because of deposition of iron on them.

Only prevention is the solution to this blood disorder, you can prevent it by getting your and your partner’s blood screened before you get married. As explained above different possible gene combinations are possible, so just an advice, get your blood screened for thalassaemia before you get married or plan your family.

For more detials on thalassaemia and in-depth knowledge of it, please refer to following links or search for it on google. I am also attaching on pdf file with this mail, might be of your interest. I think those people should atleast read more about thalassaemia who are soon going to be parents.

Links:

http://www.geocities.com/HotSprings/5917/thal3.htm http://en.wikipedia.org/wiki/Thalassemia http://www.bloodgivers.com/thalassaemia.asp

PLEASE FORWARD THE LINK TO THIS ARTICLE TO ALL YOUR KNOWN ONES

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Comments»

1. Bernard Supi - December 19, 2008

I had been tested as normal without any thalassaemia trait, while my wife is a thalassaemia minor, but our child is confirmed as thalassaemia major, Hb 6.6%, HbA2 2%, HBf 98%. How can this happen?

Thanks


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