Need some advise/help understanding the genotype report

Hi all,

We received the genotype report for my daughter from the testing lab yesterday. It states the following:

"the beta-globin genotype indicates that the father is heterozygous for IVSI-5 G>C beta(+) thalassemia mutation, the mother is heterozygous for codon 15 TCG<TAG beta(0) thalassemia mutation and their child has inherited both parental beta thalassemia mutations (compound heterozygous). Multiplex gap-PCR tests designed to detect single alpha-globin gene deletion of the rightward type (- alpha ^3.7) and leftward type (- alpha ^4.2) were carried out for the three family members. They do not have these deletions."

I know that it is bad that both the genes of our daughter are mutated, but does it necessarily follow that she has beta-thal major or is there a possibility of beta-thal intermedia or only time will tell? I will talk with our daughter's hematologist during our next appointment, but I thought I will check in the forum if someone has some information.

Appreciate your inputs.

Kind regards,

Bostonian_04

Hi,

Because of the involvement of the beta zero gene, it is unlikely that the child is intermedia, unless the other mutation is very mild. There is a direct connection between the amount of deletion and the severity of the thal. You may also already have some idea by the effects of minor on you and your wife. Few to no symptoms indicates a less severe deletion of the gene. I would guess your wife shows more signs of thal minor than you do, because of the beta zero gene.

I do think that with the blood supply available in the US that you won't have much trouble finding matches for transfusion. If there is any trouble you may consider appealing to the local Indian-American community to find regular donors.

For your own information and anyone else wondering about further children, in vitro fertilization can completely eliminate any chance of passing on thal genes from either parent.

I am happy you have found our group and that you are being so proactive about your child's health by seeking answers. Always go forward. Resist the tendency to blame yourselves. It will not help and can have effects on the child as she grows. This applies to all parents. Please always look forward and don't get lost in what ifs. Deal with what is and do your very best to raise a child that is complete in all ways, and realize that social development will be just as important as physical development. Your children should feel that they are no different from anyone else. The founder of this group, Lisa, was raised in such a way that she thought that she was so much like everyone else that surely, all kids got transfusions. It was always funny to hear her tell the story of asking her classmates when was their transfusion but it showed just how much she was raised like other kids. Make sure your kids also feel that way. Let them grow and develop socially and do anything that is within the limits of their health. Lisa was a very active person who played little league baseball on the same fields my own kids later used. She was also an avid bowler and never let thal prevent her from being active or working. Believe that your kids can do the same because they can.