Little Ari

Hello All,

Just wanted to give you an update on our little one.  As I mentioned before, the doctors confirmed Beta Thal Major.  THey are monitoring him now every 2 weeks and have told e to watch for signs like paleness, quick breathing and fatigue...i'm scared to death to miss these signs.  I mean, he's a baby...he sleeps all the time! 

Anyhow, on Oct 22 his hemo was 8.2 and on Nov. 5 it was 8.1.  Anyone know of anything else to look for? 

I did a lot of research on this site on genotyping and have sent it to my doctor and asked to have it done.  Hopefully they will listen.  When i asked initially they said they were just waiting for his levels to drop to do anything.  Genotyping should be done prior to the drop right? 

Can anyone share stories of how and when they noticed drop in their babies? 

Thanks and lots of love

Hi Carisma,

Genotyping should be done before the baby is ever transfused. If genotyping is used to match the blood, antibody reactions from the transfused blood can be avoided.

Hello Carisma,

I agree with Andy and as you are thinking - Genotype typing should be done prior to the blood transfusion.

From: http://www3.interscience.wiley.com/journal/98518982/abstract

We evaluated the usefulness of blood group genotyping as a supplement to hemagglutination to determine the red blood cell (RBC) antigen profile of polytransfused patients with -thalassemia. We selected 10 alloimmunized patients who were receiving antigen-matched RBCs based on phenotype, and had clinical evidence of delayed hemolytic transfusion reaction. DNA was prepared from blood samples and RH E/e, K1/K2, FY A/FY B, and JK A/JK B alleles were determined by PCR-RFLP. RH D/non-D was determined according to the PCR product size associated with the RHD gene sequence in intron 4 and exon 10/3UTR. RH C/c was tested by multiplex PCR. The phenotypes and genotypes of nine of the 10 samples were discrepant. Five of the discrepancies occurred in the Rh system. One sample was phenotyped as Rhcc and genotyped as RH C/C, and two samples were phenotyped as RhCc and genotyped as RH C/C. Two other samples were phenotyped as RhEe and genotyped as RH e/e. Three samples had discrepancies in the Kidd system with phenotype Jk(a+b+) and were genotyped as homozygous for JK B. One sample had a discrepancy in the Duffy system: it was phenotyped as Fy(a+b-) and homozygous for FY B. Genotyping was very important in determining the true blood groups of many polytransfused patients with -thalassemia, and it assisted in the identification of suspected alloantibodies and the selection of antigen-negative RBCs for transfusion

Also, you can look at the post from our members talking about genotyping prior to transfusion at
http://www.thalassemiapatientsandfriends.com/index.php?topic=2231.0

and where - our member's experience with antibodies and how it could be avoided
http://www.thalassemiapatientsandfriends.com/index.php?topic=1660.0

Please push through with the doctor's to get the genotyping done. Most doctor's don't think it is needed but it seems a good option if genotyped blood is transfused

Hi Carisma,

As Andy and Narendra mentioned, please get the genotype testing done before the blood transfusion is started. Our daughter (who is 3 now) started transfusion when she was 2 months old and her Hgb was 7.3. We did not see any difference in her behavior or breathing or sleeping except her lips were pale.

Good luck with everything...

Hi Carisma,

I hope that Ari is doing well.  I am sure that he is keeping your busy  

Lil A is also a beta zero.  He was first transfused at 3 months of age when his hg suddenly dropped to 44.  We did not notice much of a change in him other than some paleness.  On a routine blood test it was found that his hg was very low and his transfusion was given that night. 

I think that it is a good idea to test him regularly and to have the doctor feel his spleen at each visit.  Lil A was born Sept 11th and he received his first blood transfusion December 11th - ideally, he should have received it earlier.   Ari was born two days after Lil A's bday so perhaps you can have him tested bi weekly now - or if you notice a change in his lip color. 

Genotype testing can be done before or after your son has been transfused as this test requires dna (red blood cells contain no dna) - which does not change after a transfusion.  Phenotype testing should be done before transfusion because it looks at the actual markers on the red cells - this test is impossible to do after one has been transfused because it is nearly impossible to distinguish the donor vs host cells. 

Having both tests done is helpful because it gives them two sets of data - and the best cross match will always be found.  This will prevent formation of allo antibodies - and will eventually help the blood bank as well.  If they know all of the antigens they will not need to perform needless tests during the crossmatching process. 

Genotype results take a long time to come back, in the meantime have the phenotype testing done right away so that lil Ari is not given mismatched blood from the beginning.  Hg can drop rapidly between the 2nd and 3rd month (as we experienced) so it may be a good idea to do it right away before a transfusion is given.

I hope that this helps, 

All the best to lil Ari - please give him a big hug from Lil A and myself, 

Sharmin

Thanks everyone! I was really confused about genotype and phenotyping.  Some of the info i pulled from our site mentioned to do genotyping first.  I spoke to my doctor in Atlanta and she has conversed with the doctor here and reccommended extensive rbc phenotyping be done first as sharmin mentioned. 

I have another apptment on thursday - we are going bi-weekly.

Ari has dropped to 5.9. We r waiting for another lab to confirm. They r saying they do not want to transfuse??

Hi Carisma,

I wonder why they do not want to transfuse him yet    Have they drawn the sample for the phenotype testing yet?  What I noticed with lil A and his growth during this time was as follows:

birth weight 8lb
1 month 10lb
2 months 12lb
3 months 12lb

As you can see his growth was great for the 1st 2 months - but he did not gain weight between the second and third month.  Once he was transfused his growth resumed immediately - he began to feed better and gain weight.  For this reason, I had always wished that we transfused lil A earlier.  Also, lil A's spleen was slightly enlarged at 3 months - but it became normal immediately after his transfusion and has remained normal since. 

Please know that we are all here for you,

take care,

Sharmin

Hi Carisma,

With thal beta zero, once the fetal hemoglobin supply wanes, the child needs to be transfused, because there won't be any normal hemoglobin at all. This is why the sudden drop in Hb is seen. By age six months, there may be very little fetal hemoglobin left, so transfusions will be necessary before then. Putting off the first transfusion in beta zero has no value and as Sharmin has said, the baby's growth will be slowed. Does your doctor in Atlanta agree about not transfusing yet?

The doctor in Atlanta told me he could be going through something called Physiological Nadar??  She suggested to watch his vitals and test him again on Monday.  (Sharni - she called after I spoke with you)

The doctor here is going to check him again tomorrow.  They did 3 tests today and the 3rd one was not read because the lab said they did not have enough blood.  I made an appt to come back monday initially but the doctor called and asked me to bring him in earlier.

The RBC Phenotyping blood was drawn today as well.  It looks like he may need a transfusion prior to the test results coming back!!!  That worries me but when I spoke to Sharni she said it should be okay for him to take the blood this time without these results as long as they do the genotyping.  THe Doctor in Atlanta also mentioned the same thing although she said it would be better to have the RBC results. 

My doctors, husband and family didn't really expect his hg to go down so soon...my doctor here refuses to believe that he was that low and that is why they tried to test 3 times.  i think i was the most prepared thanks to this site.  I have been reading back on posts from the child of Bostonian & Lauryn. 

My husband feels that it is bad to transfuse Ari so early because Chelation would start earlier.  I'm explaining all angles to him and also explaining that they may not have many or any BETA 0 patients.

I will update on this post via my phone tomorrow after our appt at 1:30pm.  Please keep Arii in your prayers.

love, C

Charishma,

Little Ari is in our prayers .

Zaini.

Dear Carisma,

I understand your husband's concern about chelation, but the good news is that your son will most likely be started on exjade rather than desferal.  At the conference the doctors agreed that for young children exjade is the best option for many reasons, such as the effects on bones and growth that desferal can have and the quality of life (it is best not to poke very young children if you don't have to). 

In thalassemia, it is very important to remember the balance between hemoglobin and chelation.  For optimal growth it is best for a child's hg to be kept above 10 and for the iron levels to remain as low as possible.  With exjade, these days it is possible to keep iron levels near normal. 

I hope that the doctor decides to transfuse little Ari soon.  Please keep us posted and give our love to the little guy 

Ari is always in our prayers,

Sharmin

Hi Carisma,

The Physiological Nadir is a phenomenon that happens in all newborns and occurs in the 8-12 week period. This is a low point in hemoglobin levels as the transition from fetal to adult hemoglobin takes place. In normal babies, this will be a temporary drop, as the Hb is lower but the percentage of HbA is increasing. With beta zero, the percentage of hemoglobin that is HbA will remain zero, so the only hemoglobin will be the fetal hemoglobin. Again, I see no reason to wait, as there will not be any HbA and the child will develop at a more normal rate if the Hb can be increased. I don't think transfusion would be put off at any of the Comprehensive Centers, once the Hb has dropped this low. A big advantage of having the treatment program designed at a Comprehensive Center, is that they will always be at the forefront of advances in understanding of how best to treat thalassemia, and won't be relying on outdated practices and information. The current thinking is to never allow a child's Hb to drop, as it slows growth and development, and with modern chelation, putting off transfusion because it delays when chelation is needed, has become somewhat outdated. We have heard about current trials using Exjade at meal time and also using it twice per day in half doses, and I think this will quickly lead to new recommendations that will make the oral chelator even easier to administer. Avoiding chelation as long as possible is no longer part of the strategy in thalassemia treatment.

And as I should advise all parents in the US, make sure you are registered with the Cooley's Anemia Foundation.

Cooley's Anemia Foundation
330 Seventh Avenue, #900
New York, NY 10001
(800)522-7222
Fax: 212-279-5999

Patient Services Manager
Eileen Scott
eileen.s@cooleysanemia.org

 Ari is at 6 but they do not want to transfuse. They want me to come back on the 30th!

Hi Carisma,

For now, watch Ari and look for any signs that he's becoming listless or lethargic, has poor appetite or begins to look noticeably paler, with pale lips being a sign that blood is needed. Meanwhile make sure you have read about the transfusion process, so you know what to expect. All medical procedures are a bit less scary when you understand what will be done. Also, at this age, the Hb is lower than normal so 6 is not as low as it would be once the nadir period has passed, so the actual physical condition is a big factor in deciding when to begin transfusions. Your own observations about his condition can be very important. Try to be as objective as possible and if you feel there has been a significant change in his behavior, call the doctor.