Check baby for Thalassemia

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.

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.

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

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.

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.

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.

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

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.

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

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.

Testing is mandatory for all children born in Ontario, Canada and is done at birth. No wait is required.

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

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

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.

Our prayers are with you.

ZAINI.