Wednesday, April 27, 2011

Genetical Disorders-Thalassemia

One important thing that couples should be aware before planning the kids is to go for Genetics counselling.

At the far glance, it looks not necessary and the numbers look really less, so we imagine we would never be trapped in those numbes. but, what if??? We cannot rule out the possiblity though it is less likely to happen. That is why, it is always recommended that we are aware of all the things to be better prepared to handle things.

Genetics couselling does help the couple to understand what to expect & what not in addition to the solutions offerable in any unlikely possible event.

May be i should put it in my own experience, so the parents out there can better relate it to themselves.

I happenned to take my elder daughter to her pediatrician for the MMR vaccination and upon general examination she asked me get HPLC & Iron serum binding tests done as her HB levels seems to be low. This test is not needed for every one with low Hb levels, but she suggested it because the kid was found to be on low levels in the previous examination aswell. She suggested that we get this test done to rule out any other reasons that are influencing hb levels.

So we got the test done & showed the reports to her only to hear that the kid is having the possiblity of Thalassemia intermediate and hell broke lose for us. The word seems to be too big and we never heard of it before. She tried her best to enlighten us on the issue and here are the details

Thalassemia beta is a genetic disorder that gets passed on to the generations only through genes & effects the formation of red blood cells. As the kid carries two sets of genes each from the parent, the severity of Thalassemia can vary based on the no. of genes mutated i.e Thalassemia Minor/Trait where one gene is mutated or Thalassemia Major if two genes are mutated.

Thalassemia minor is not so severe as healthy gene dominates the mutated gene and people effected with minor can lead absolutely normal life except that they need to get their blood levels checked from time to time & need special medical support during pregnancy & delivery. These cases normally go undiagnosied becaused of no visible symptoms and be mistaken as iron deficiency cases. One more important thing though to remember is to get married to a person who is NOT a carrier, to ensure that the next generations are not effected with serious form of Thalassemia i.e Major.
Thalassemia Major is a severe form of disease and is passed on to the kids if both parents happenned to be carriers. To break it down by logic, if both parents are carriers, they both carry one mutated gene and one healthy gene. Which means, there is 25% chance of being normal (Taking the healthy gene from each parent leaving aside the mutated), 50% chance of Minor (Taking healthy gene from one parent and the mutated gene from other) and 25% chance of Major (Taking mutated genes from both parents) which means 1 out of 4 can become Thal major effected.

There comes the importance of awareness. In our society, marraiges do happen by matching the social status, financial status & more over driven by physical appearance but no one really bothers about these things. So far, never seen an occassion where either side of parents are interested to get bride/groom's basic healthchecks done. The moment you ask for the healthcheck to be done, you can forget the proceedings on the alliance. In case of Thal, its really really important that two carriers are not getting married and thats the only way to curb it in the generations to come.

After explaining this, she asked us to get our tests done to see if either of us are carriers or both. If we both happens to be carriers, further prescribed to go for DNA analysis. This DNA analysis is done only out of genetics institutes one such is in Ameerpet, Hyd. So as a first thing to do, we both gave our samples and were asked to wait for 3 days for the results. I agree, i'm an educated person, but i'm a mother. I lost all my senses and just couldn't get myself alright for those three full days only to see that we both are carriers. What the hell??? If we both are carriers, its very well possible that Sanju can become intermediate/major and to even think about it is sending shivers down the spine. I searched for it over the net, and the health issues associated with Thal major seemed to be even more scaring. Enlargement of Organs, Regular blood transfusions, bone enlargements, chelations to extract iron deposits..what not??? And all these issues are we as parents passing on to the kid due to the lack of awareness? What about the younger one then? When its such serious, why i was not tested during pregnancy??? Why the society is unaware of this? Why we were not paying attention towards getting basic health checks done before finalizing on a match? I was extremely negative and started to blame every one & every thing in the reach within myself. But going by the same internet study, intermediate/major effected people do show up some signs but we dont see them in Sanju. So in one corner some thing was telling me that everything is fine, but reports have something else to say. how is it possible?

These reports have come while i was in office and as i heard the results through my husband, i couldn't hold myself. And, i didn't want to make it a big scene and draw sympathy (Ugh...hate it) or whatever, so i instantly sent an email to my director saying that i'm leaving due to ill health. As i was crossing the exit door, my boss was walking in and asked me if i can spare some time for a quick meeting. With a lot of difficulty, i gathered my words and told him that i was leaving for the day. He is smart. He quickly got hold of my mental status and insisted that we talk. We got into the conference room and i had to vent out whatever i had within. The instant advice from him is to go for second opinion. He knows a director from someother lab and spoke to him to arrange a personal counseling by the supervisor doctor. He assured me that everything will go fine after speaking her.

Next day, myself and my husband both went and met the doctor. She looked at the reports and told us that going by numbers Sanju is only a carrier but not an intermediate/major. Myself is a sure carrier, but my husband's readings are showing border-like numbers which in reality they consider as normal. She told us that we are very lucky to have a minor effected child despite me being carrier & the husband being in border line. However, she expressed a concern about the younger one and suggested that we get this test done to her immediately. She did explain the reports and completly ruled out the very thought of Sanju being intermediate/major. She said its ruthless to be written like this by lab people without proper knowledge and told us that report interpretation is more critical than the examination itself. So for now, we are at peace, We just have to see that Sanju is on good diet, get her tests done from time to time & get her married to a person who is not a thal minor which is after 20yrs. But the concerns about the younger one started mounting up and we thought we will get the test done as soon as possible.

As we were returning, my husband expressed that we better go to Institute of Genetics aswell for the reports interpretation just to be double confident. I agreed with him and we went there. The first doctor who saw the reports went by lab comments and said that Sanju could be an intermediate and we better get the DNA analysis be done to understand the status. Our spirits were down again. Only some time back the other doctor assured us that nothing to worry and now this??? We were referred to a scientist there. She saw the reports and the immediate reply from her is - "These reports are dirty, I dont see a relation in numbers". She then explained us that Hba2 numbers are critical to identify Thal conditions, but we must also see other proportions like fetal hb. Hba2 for all of us is more than 3.5 which is an indication for Thal possiblity, but fetal hb is absent for all of us which is in her terms "Stupid". Fetal gb should contribute for more than 9% while hb fragmant should be less than 85% which is not true in our reports. She told us that we should repeat these tests to clearly understand the situation. We have Sanju's exams going on during that time, so we thought we better get these tests done after the exams and got them done for all 4 of us during last week. And can you guess what reports have to say....All of us are completely normal, not even minors. Our HBa2 is less than 3, which means there is not even a remote possiblity of Thal be it Minor or Major. And the Hb fragmant contributions are all normal.  First is Sigh...what a relief. Next is Grr...We must sue that lab for this mental torture that we faced for last 4 weeks. Whatever, we got the results from an authenticated institute and we must agree that they are right. And the lesson learnt-  "Always go for Second opinion".

Having said this, don't you people think that genetics counselling is important before marraige, or if that seems to be next to impossible atleast before planning for kids? Yes, it is important. During our visits to Genetics institute, we were surprised to hear that all disorders that we see in kids are majorly passed on from parents with the combination of minor defects in one or both parents. And all this is due to inadequate awareness among the society. Thats a suprise. When a bundle of joy lays next to us in complete healthy state, we can't realize the pain that parents experience when the same bundle of joy is effected with birth disorders. And many of them need lifetime assistance or medical support and they can't enjoy the normal life. Doctors were clearly stating that they still see a lot of cases coming to their screening could have been dealt better if the parents approached them before planning kids. There are many techniques available for them to do prenatal screening & ensure that the fetus is normal and incase of any abnormalities, they explain the options to both parents and leave the decission to them to take & accept the risk. So its important that we make it a practice to get the basic health checks done (not just for mother) for both the parents, and approach the genetic couselling specialists as necessary.


  1. phew, that was an ordeal Renu.. i understand the stress.. take care..

  2. I kind of have the same problem. Me and my husband are border line of being carriers of Beta Thalassemia.. and we are very nervious, because we want to have a baby. we have an appointment with a hematologyst and see want he can suggest us...

  3. Please do not worry.. let us just hope all goes well.. take care..