Thalassemia Patients and Friends
Discussion Forums => Thalassemia Minor => Topic started by: DadThal on June 24, 2008, 09:08:28 AM
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Hi Everybody,
I just came to know about this site. Actually just last night I came to know I'm Thalassemia minor.
Please let me tell you my situation so that you can help me.
My wife is pregnant and was found Thalassemia minor. Then I tested myself and was found Thals minor too. My wife is in 5 months of pregnancy (22 week). We went to a Haematology consultant who is suggesting to check the baby for thalassemia major.
We live in Bangladesh. As per the consultant, there is no lab here in Bangladesh where we can test this. So he is advicing to go India as India is our neighbouring country.
From today morning, I'm taking the perparation to get visas and all the formalities. I've many questions in my mind right now. I'm trying to get the answers from Internet but seems like this is a very good site and hopefully I'll get all my answers from this single source. Please dont mind if I'm asking basic questions. Hopefully you'll understand I'm bit frustated with the situation as I thought I've ROYAL blood (?). Also because of my ignorance, our child is in danger.
Qs:
1. What type of test will be done to check whether the baby is major? Can anybody tell me or give me some link where details can be found like how the samples are collected, how painful is that, name of the test etc etc
2. As we'll go to Calcutta (a city of India), whether they are good for this type of testing or I should go to any other city like Chennai. Can anybody suggest any good testing center? Our consultant could only provide one name "RANBAXY" till now. He is trying to get more info. Can anybody tell me how is this center and whether they've any branch in Calcutta. Also can they
collect the samples by their own or we've to go some medical center to give the samples.
3. How long does it take to get the result of this test? If it takes much time like 2 weeks then is it possible that we give the samples and then come back to our country. Then the center will send the report through email/courier if I pay the money.
4. The most important question, do we still have time to do abortion as its already too late and by the time we'll get the result, it'll be more advance stage. Can anybody give some honest suggestion?
These are the questions I could not recall right now. I'll ask more questions if I missed something important. Thanks in advance for the answers.
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Hi,
The test is called prenatal diagnosis and more specifically C.V.S (Chorionic Villus Sampling). It is a small procedure involving collection of cells surrounding the baby.
I hope your child comes out normal.
Normally abortion is not advised at 5 month.
Wishing you all the luck.
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Hello,
I am surprised there is no center in Bangladesh that does the prenatal testing for thalassemia. Did you get in touch with Bangladesh Thalassemia Foundation?
We have a link at:- http://www.thalassemiapatientsandfriends.com/index.php?topic=112.0 which had information on bangladesh thal foundation and I see different contact numbers on the bangladesh thal foundation website :- http://www.thals.org/en/contact-us/view.html
Bangladesh Thalassemia Foundation
44/2, Chamelibagh, Shantinagar
Dhaka – 1217, Bangladesh
Bangladesh
info@thals.org
88 02 8332481,01190840191
88 02 8931139
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Information on Prenatal testing
From:- http://www.thalassaemia.org.cy/pdf/What%20is%20Thalassaemia.pdf
Testing a foetus for thalassaemia
There are three types of tests that can determine whether an unborn child has thalassaemia:
(i) Amniocentesis: Amniocentesis is performed in the second trimester of pregnancy, after about 15( 18-22) weeks' gestation. Using ultrasound as a guide, a trained obstetrician insertsa very thin needle through the mother's abdomen to withdraw 2-3 tablespoons of amniotic fluid. The foetal cells (cells from the unborn child) present in the fluid arethen analysed in the laboratory to determine whether the foetus has thalassaemia.This test is used when the pregnancy is far advanced. It poses no significant risk to the mother. However, the test may cause a miscarriage -- from a few days to a fewweeks after the test.
(ii) Cordocentesis (sampling of fetal blood)Under ultrasound guidance, a fine needle is inserted through the abdomen into thefoetal unbilical cord. About 2-3 ml of blood is aspirated and foetal blood isseparated out in the laboratory. In skilled hands 100% pure foetal cells are obtainedfrom the first attempt in the majority of cases. Causes of failure in obtaining purefoetal blood include early gestational age, less than 18 weeks, maternal obesity andposterior placenta. Early gestational age is also the most important cause ofoccurance of serious complications in cordocentesis. (top fig p.127)Globin chain separation with gel electrophoresis is the usual laboratory method ofdetection. Early and specific diagnosis by molecular methods has almostcompletely replaced cordocentesis which is now mainly indicated only in pregnant patients who report late, in those in whom CVS is inconclusive and when previousstudies of at risk couples are not available.
(iii) Chorionic Villus Sampling (CVS)CVS can be performed somewhat earlier than amniocentesis, at about 10-11weeks' gestation. Using ultrasound as a guide, the specialist obstetrician removesa small sample of the chorionic villi -- cells that contain the same genetic information as the foetus and which will eventually form the placenta. The cells are removed either by a thin needle inserted through the mother's abdomen(transabdominal) or a thin catheter inserted through the vagina (transcervical). The cells are then analysed and a diagnosis made. (fig p128)As with amniocentesis CVS poses no significant risk to the mother. However, there is again a small risk of a miscarriage. If a miscarriage does occur, it can be difficultto know whether it was due to CVS, because many miscarriages happen naturallyat around 12 weeks of pregnancy.There may be an increased risk of the baby's limbs being malformed if CVS isdone very early in pregnancy - i.e. before the 8th week after the last menstrualperiod. However, there is no evidence of an increased risk of any malformation when CVS is carried out after the beginning of the 9th week after the lastmenstrual period. This is why the procedure is generally carried out after the beginning of the 10th week after the last period
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I found some information on the net for doctor's in Calcutta who might be able to help with Genetic Testing
From:- http://www.indiaspace.com/pages/genetics.htm
Dr. Amit Chakravarty
M.Sc., Ph.D., M.S.C.G.(U.S.A.)
Director, Med-Gen Diagnostic & Research Centre Pvt. Ltd.
Visiting Consultant & Incharge of Genetic Centre : Peerless Hospital & B.K. Roy Research Centre, Calcutta
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Hi Sajid,
Really thanks for the wish. We really need prayer from everybody.
Hi Narendra,
Really thanks for the important information and all the efforts. Suddenly I became excited on the idea that probably we dont have to go to India.
I called the person at the cell number provided by you. After some conversation we came to know he is the same person our Consultant has contacted also. He told me we've to go to India. He is trying to get replies from his contact in India whether this prenatal test can be done in this stage. He'll let me know as soon as he get any information from India.
The person told me its no use now to test as we cannot do anything after getting the result. But I'm determined to know. I cannot wait for another 4 months with this uncertainty. From yesterday, I belive my age increased 10 yrs. I am wondering how come I didn't do these blood test earlier. Infact how come I was completely unaware of such desease.
Thanks again.
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Hi DadThal,
Welcome on the forum,i am really sorry to hear about your situation,i wish and pray that your baby will be healthy.
I went through this test myself before my second baby was born,it's done here in karachi in couple of hospitals,one is AGA KHAN HOSPITAL,and other is PNS Shifa,a navy controlled hospital,as Narendra gave you the information,a needle is inserted in mother's abdomen to take out the sample,it's not VERY painful,and patient won't feel a thing if given local anesthesia,after the test patient is advised to be on bed rest atleast for three days to avoid misscarriage,and given painkillers for any kind of pain.
The test was done when i was about 11-12 weeks pragnant.
Hope this helps,feel free to ask any questions.
ZAINI.
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Hi Zaini,
Really thanks for the important information. You've given some required info. Till now I was thinking to go there, stay in a hotel, provide the samples and come back with/without the result. But as you're telling 3 days bed rest is required, so I believe we've to admit in the Medical center. Can you please tell me how much time is required to get the result? Also will it be harmful for the baby/mother to fly after the test while coming back to our country (ofcourse after the 3 days rest).
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To update you all, I called the lab named "SRL RANBAXY" in India to know whether they do this test or not. The customer represetitive told me they dont take the samples, they can only test it. The procedure is
1. First we've to go to the lab.
2. They'll give us instructions what to do.
3. We'll find a doctor who will take the samples and will fill up a form provided by the lab.
4. The lab will test the samples.
The representitve told me they dont recommend/refer any doctor. We've to find one by our own. I dont know how I can do that from here. If anybody can help with a doctor's name who is in Calcutta and also dependable, please let me know. Thanks.
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Hi dadthal :
welcome to Thalassemia patient and friends .. :welcome
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Sometimes I feel I've already made two instances of me.. ???
One is insisting to go India as soon as possible and take the necessary actions if required (you know what I mean).
Another one is telling why going through all these hassle and pain. Lets leave the whole thing in the hand of Allah. 75% chances are the baby will be OK. but the problem is me and my wife is very unlucky in lottery. We always get the worst prize in any lottery. but whatever, if we get a thals major baby, we'll take care of him/her till we die. Science is progressing and who knows there will be a cure very soon. But again thinking how much pain s/he has to go through..I know this is not the right place to ask this question but can anybody tell me how tought is the life for thals major?
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Hi Dadthal
Welcome to the forum. You will get so much information from the members here.
Quote:'Also because of my ignorance, our child is in danger."
You should stop feeling guilty. You are not at fault. We carry so many things in our genes, still it is not our fault. it is our destiny. When we know we deal with it, this is what you are doing. You are courageous. You should keep yourself fit for your child and for your wife. She will need your support and love.
May Allah give you a healthy child.
Take care and good luck.
Jade
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Hello,
I completely understand your frustration at this time. However, please consider following facts:
-Pregnancy at 5 months is safe and an abortion at this time is not safe for your wife.
-You and your wife are both thalassemia minor and have a 25% chance of thalassemia major child.
-Thalassemia is a manageable condition and with proper care the patients live normally.
Don't react as a knee jerk reaction right now, take your time to find the right doctor and test center before you go for any test. There is a good chance of 25% your baby will be completely health and 50% chance the baby will be thal minor just like you and your wife.
Think carefully and act rationally.
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Hi DadThal,
As muslim you must believe that prayers can change everything,my doctor told me that there is a 2% chance of mistake in this test,internationally accepted,and in your case you have crossed the time limitation,but still if you wanna do the test, why don't you come to Pakistan? meet dr rahat qureshi in AGA KHAN hospital,she'll inform you of the procedure,i can even book you an appointment with her if you want to,and i'd love to help you and go with you to the hospital even,but it depends on when are you coming, coz i am leaving the country on friday and i'll be back till 9th july.
About the results,i think it comes with in a month.
Plz feel free to contact me in PM if you want to.
ZAINI.
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Hi Everybody,
Thanks for all the support you've given to us. Today after getting back to home, I sat with my wife and discussed what should be done. We agreed we should continue unless somebody tell us it'll be a measurable life for the baby. We also agreed we'll not go for the prenatal test as it has some risk of miscarriage. We'll assume and hope that we're having a normal baby.
Just after we take the decision, I got Online to see whether anybody provided any important information or not. I got 2 valuable replies which clear our mind.
Hi Canadian Family,
Thanks for your valuable information. Infact your 1st point is enough to take the correct decision. I'll never do anything that can do any harm to my wife. Point 3 is also very important as now we know the patients will have a near normal life. You can be sure we'll act rationally.
Hi Zaini,
Thanks for mentioning the 2% chance. We'll not take that chance but once we go through this situation, hopefully we'll come to meet you at Pakistan. We're really touched by your mail.
Now I've one question to everybody. Actually I've read too much stuff in one day regarding thalassemia. So cannot remember properly but I can recall one article where it was mentioned that its not very easy to check the new born baby has thalassemia major or not. Can anybody give some light on this? I mean, now as we're not going for prenatal testing, our first chance to know whether our baby is thalassemia major or not will be after delivery. So can we check the baby right after the delivery or we've to wait for some time. Please let me know if you know the answer.
Thanks again to everybody.
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Hi DadThal,
We were also informed of the same test about two years back. Testing the samples of liquid around the baby in the womb.( Amniotic Fluid test... as far as I remember).
It was 8th month of pregnancy and me and my wife were totally unaware of Thal till then.
In case you wish you can come over to Delhi and get the tests done. The doctor's name is Dr. I.C.Verma (Senior Consultant, Department of Genetics) and he is with Sir Ganga Ram Hospital.
http://www.sgrh.com/search/details.asp?id=37
His details are also available on the website of World Health Organisation.
http://www.who.int/genomics/professionals/clinicalgeniticists/en/index1.html
When I tried to contact him, he was on vacations to USA for 3 weeks but was very kind enough to reply back on mails and also referred me to one of his best juniors. You can try and contact him over e mail.
dr_icverma@yahoo.com
All the best and as Zaini said " Prayers can change everyting"... so we shall all pray for your child.
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Newborns can easily be checked for all hemoglobin disorders and this is routinely done in many places. For example, in the US, 42 of 50 states require testing of all babies at birth for all hemoglobin disorders. This will also determine if your child is a carrier (minor) which will be important information for your child to know later on in life.
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Hi Andy,
Here in Delhi at the birth of my child, we were told by the doctors to wait for atleast a year and then get the Electrophoresis test done for my child to get to know of any blood disorders.
I dont know if DNA testing could be done immediately on new borns and if it can detect any disorders soon after birth but in my case we were asked to wait for a year.
Do you think there could be any place in Bangladesh or nearby where DadThal could get his child diagnosed immediatey after birth.
Thanks,
Ginni
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Hello,
Here is what one of my contact who works in the field of Fetal Medicine for the past 15+ years says in regards with your case
Prenatal Diagnosis (PND) is possible though it is a little late. Results can take a little while to get. The first and foremost requirement is to confirm that both the husband and wife are just beta thal carriers and not HbE, as HbE is common in Bangladesh, or other haemoglobinopathy carriers. As written in the earlier email, some preliminary studies are required for quick PND results.
So, I am not sure what it means by having HbE thal versus Beta Thal Carrier. I think the mutation might act differently. Andy might be able to shed light on it.
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I don't know why doctors would say wait a year, as this can only lead to treatment starting at a later date than what is known to be best for the child. As we have seen within this group, transfusion now starts before the hemoglobin level drops low enough to interfere with proper growth and development. Also, both Christine and Hopefulmommy had their babies diagnosed very early and in my opinion, incredibly accurately. Both babies have progressed pretty much as expected in terms of hemoglobin levels. I have been somewhat amazed at how accurately doctors can now forecast what to expect as the baby grows.
Narendra has brought up a very important point about HbE. While HbE is a benign by itself or even as double HbE, when HbE and Beta thalassemia trait are found together, it can lead to a condition ranging from non-transfusing intermedia to transfusing major, depending on how severe the beta gene mutation is. HbE is very common in Eastern India and Bangladesh so it is important to find if either patient is a carrier.
I met a family from Bangladesh at the Dubai conference and I occasionally see one of them on MSN. As soon as I see either of my contacts I will ask them about finding a doctor there.
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Hi DadThal,
As far as i remember,although we went through prenatal testing in our second baby,still we wanted to do the electrophoresis test to confirm it,and to know if our son was minor or not,our hemo told us to wait untill our son was 6 months old as she said before that you won't find clear results as mother's blood will be in the baby's body.So we had to wait for six more months,but i don't know if DNA testing could be done on such a lil baby,if yes then i think you won't have to wait for six months,i am not sure about it but i am sure Andy will help you out about this.
If a child is thal major,in most cases he or she is diagnosed with in first six months of his/her life,coz parents can see the difference,child will become pale after 2 or three months and won't be much active.
Canadian Family said it right,Thalassemia is a manageable disorder,it needs patience,strength and compliance with the chelation.Still i'll pray that your baby would be normal.
ZAINI.
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Dear DadThal,
The information you have received so far is mixed, some is good whereas some is incomplete and confusing as far as Prenatal Diagnosis (PND) for Thalassaemia is concerned.
To start with, let me introduce myself. Have been working in the field of PND for Thalassaemia for nearly the last 18 years in Mumbai, India; London, U.K; and also in Dubai, U. A.E.
Zaini has described the CVS procedure fairly accurately and so also has Ginni about Amniocentesis, testing the fluid around the foetus (baby) is also possible.
The information posted by Narendra about the three different types of procedures for PND is very helpful. Chorion Villus Sampling (CVS) is the earliest test available during pregnancy at 10+ weeks of pregnancy, counting from the first day of the last menstrual period. The Amniocentesis test is done around the 18+ weeks of pregnancy for direct testing or earlier at 16+ weeks for culture and then testing. The Cordocentesis or Fetal Blood Sampling (FBS) is done generally after 20+ weeks of pregnancy though it can also be done a little earlier in pregnancy. The most commonly used method for analysis of the collected Foetal samples is Thalassaemia Gene Mutation Detection using the DNA extracted from the smples. The globin separation method mentioned in the description of Cordocentesis is now very rarely used.
In late pregnancies where Foetal Blood Sampling (FBS) is done, another method is also available where results can be available in about 24 hours following the procedure.
The percentage of error in PND results using DNA methods is internationally quoted at around 1%. Every precaution is taken by the testing laboratory to ensure that no mistakes occur as far as possble. The technicians testing PND samples are very conscious of thier responsibility and the consequences if any error were to occur in the diagnosis.
In Mumbai, India, at our centre we have conducted more than 8000 PND procedures and the risk of something going wrong with the pregnancy at our centre is very low. You can write to Dr. P. G. Natrajan at natkingpg@gmail.com for more information and for any queries you may have regarding PND.
There have been a few couples from Bangladesh who have had their pregnancies tested in Mumbai, India, with Dr. Natrajan.
After birth, the newborn can immediately be tested using the DNA method regarding its Thalassaemia status. To get quick results the Family Gene Study (FGS) needs to be done earlier. This is the gene mutation study of the parents using thier blood sample.
If you are still interested to have the pregnancy tested then do write back immediately to Dr. Natrajan, natkingpg@gmail.com or me, smitashe@hotmail.com, to make the necessary arrangements. You can also write to either of us for any further queries you might have.
Best wishes,
Smita
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Guys, Smita is the one whose reference I have noted in the post earlier regarding beta thal and HbE.
Smitajee, I am glad you personally took the time to reply to the post. Having someone who works in the field of Pre natal diagonosis is a boon to those seeking answers.
Thanks Smitajee for checking in and following up and helping out clear the confusion.
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hi there, when i had my second beby the doctors waited until he was 6 months to test him as they said before that we wouldn't get an accurate diagnosis because the baby still has foetal haemoglobin. i guess that means it still has something from the mum and its own bone marrow is not fully effective as yet.
at 6 months we did the test and he was a minor.
cheers vic
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Testing is possible of newborns and is routinely done in the US at birth in 42 of 50 states. Below are guidelines from the Illinois Department of Public Health.
http://www.idph.state.il.us/HealthWellness/fs/sickle.htm
In Illinois, newborn screening for sickle cell disease is performed by high performance liquid chromatography (HPLC) testing to determine the presence of abnormal hemoglobins (Hgb) in whole blood. Unaffected infants will have mostly fetal hemoglobin (Hgb F) and some adult hemoglobin (Hgb A). HPLC has been shown effective in detecting hemoglobinopathies characterized by synthesis of an abnormal hemoglobin molecule immediately after birth. A baby testing positive for a form of sickle cell disease will have Hgb F with Hgb S and possibly, another abnormal hemoglobin such as Hgb C, Hgb E or beta thalassemia.All abnormal newborn screening test results indicating a sickle cell disorder require appropriate confirmatory blood tests, sometimes including testing of parents and siblings for actual diagnosis. Referral to a pediatric hematologist for evaluation and diagnostic testing is recommended within the first month of life and should not be delayed until the infant is older. If newborn screening results indicate less serious hemoglobin disorders or traits, referral to a pediatric hematologist for parental education and counseling is recommended. Even small transfusions may cause false negative screening test results and any results indicating that the baby was transfused require repeat testing 90 days after the last transfusion.
There are several recommended testing methods for diagnosis of sickling disorders and other hemoglobinopathies: Hemoglobin electrophoresis including both cellulose acetate and citrate agars (one is not sufficient), isoelectric focusing and high performance liquid chromatography are considered proven, reliable and accurate methods for defining an infant’s hemoglobin phenotype. All siblings of infants diagnosed with a sickle cell disease should be tested; genetic counseling services should be offered to parents.
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Testing is mandatory for all children born in Ontario, Canada and is done at birth. No wait is required.
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Dear Dadthal,
A blood test followed by an electrophoresis confirmed our child's diagnosis at three months. I pray that your child does not have thal - but if there is anything to be concerned about I think it is better to test earlier so that treatment can be commenced immediately.
I would also like to suggest that you store your baby's cord blood- there are two reasons for this. One is in case your child has thal the cord blood has stem cells that doctors can use for possible treatment. Secondly, if your child does not have thal you can store the cord blood as insurance for your future children (if they match).
I have one child with thal major and one who does not even carry the trait. It is difficult to know how the odds play out - I hope your child is free from thal and I wish your family good health.
Take care,
Sharmin
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Hi,
i am aravind,18 years old male from chennai, india. if ur situation makes u 2 cum 2 india and if req 2 cum 2 chennai ,pl approach :
Apollo Hospitals
21,Greams Lane
Off Greams Road
Chennai-600006
Tamilnadu
TEL : 044 - 28290200 / 28293333
And if u cum here pl dont hesitate 2 ask me any kind of help.
As i am a thal major i would be pleased 2 help u in this matter.
My contact info :
R.Aravind Srinivas
Cell No : +919841290273
E.Mail: aravindguild@yahoo.co.in
(or) aravind4guild@gmail.com
House no : 044-24844824
Surely, ur baby would cum 2 tis wonderful world wit gud health.
I assure u tat i will pray and also play for it.
Thank u
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Hi Everybody,
Just to share you the update, we went to India and done the amniocentesis.
I talked with the doctor today who is expecting to provide me the report by tonight or tomorrow. Please pray for us.
May be Allah will accept one of your prayer.
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Our prayers are with you.
ZAINI.
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My prayers are with you.
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Praying for everyone :pray
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Doctor sent us the following mail today. This is the result of ALL of our prayers. I'll update you when we'll get the 2nd result.
NOT TO WORRY--->FETUS IS NOT AFFECTED. They are repeating the test for confirmation and it will take another 2 to 3 days more.
Usually first hand results do not differ.
You and ur wife both are carriers of IVS-1-5 (G->C) MUTANT and this has not been found in the fetus.
BE HAPPY FOR GETTING A HEALTHY CHILD.
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Very happy for you. This means your child isn't even a carrier.
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Al Hamd ul Allah
:congrats
:party
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i m very happy for you ...
:congrats
and dont forget to say thanx to your god and say thanx to your god by helpiing some ...
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Great News. Congratulations... Now atleast change your screen name to DadHealthy...lol
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... Now atleast change your screen name to DadHealthy...lol
:yes
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Yeah!!! This is great news!!!!
:yaaaaaay :yaaaaaay
Sharmin
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Wonderful news,you are lucky.
:congrats :congrats
ZAINI.
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Thats really great news :whew :congrats
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congratulation.. now you must be having good days with your kid...... :hugfriend