Discussion Forums > Thalassemia Major

Little Ari

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Cari:
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

Andy Battaglia:
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.

Narendra:
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

--- Quote ---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
--- End quote ---

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

Bostonian_04:
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...

Sharmin:
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,  :hugfriend :hugfriend

Sharmin

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