Hello from Croatia

Hello!
My name is Ivana and I have 3.5 years old daughter Franka. I am heterozygotes delta beta. She is homozigot beta + talassemia, diagnosed yesterday. Doctor said that her blood tests are good and that we get to the control for 6 months. Can you tell me more about her diagnosis? It is not clear to me that this type of thalassemia: minor or major? I am totaly confused. I was expecting her to be heterozygotes delta beta like me... Please if you have any advice...
thanks!
Ivana

Hi Ivana,

Franka inherited one beta+ gene from each parent. There was a 50% chance that she would inherit either a beta or delta gene from you and she inherited the beta gene, and also inherited a beta+ gene from the other parent. Homozygous B+ can manifest as thalassemia intermedia instead of major, so she may not need transfusions at any point, depending on what hemoglobin level she can maintain. Her beta genes do produce some hemoglobin and she may also have a higher than normal fetal hemoglobin level, which adds to her total Hb level. Did the doctor tell you her Hb level?

Dear Andy,

Thanks so much! You basically confirmed my understanding of her diagnosis. Her Hb is 110 - as I understand normal. That was the confusing data for me, but if this is due to the fetal Hb, you have mentioned, I can understand. Also my husband has never been tested for tal, but he obivously has it. I have one more question: what about the future? Could Franka's condition get worse? Maybe in puberty? I guess her Hb level has to be monitored - next blood test will be done in 6 months.
Thanks again!
Love from Croatia....
ivana

Hi Ivana,

You are right about what to do. She should have her Hb monitored, but it is an excellent thing that her Hb is 11. That is more like thal minor, so her B+ genes are most likely not a serious mutation and the genes work fairly well. If you know the specific mutations of the genes, it might be possible to predict the long term, but she seems to be doing well and may never have any serious problems because of thalassemia. When she is older, she does need to be aware that she carries two beta thalassemia genes, so she can avoid having children with another carrier. This is very important, because even though her genes cause only mild thalassemia, if one of her genes was matched with a beta zero carrier, the outcome could be a much more severe form of thalassemia. I would suggest that she always takes folic acid daily, as it will help to build red blood cells.

Thanks!
 

Hi Andy!

just one more question...what are the chances that my 2nd baby (if I will have one) will have tal? is it possible to be tal major? what tests should we (husband and me) do in order to rule out that possibility?
thanks

Hi Ivana,

Your children all would have the same chances of getting two thal genes, 25% chance per pregnancy. So, you could have more children with the same genes as Franka. The condition should be no more severe than hers. An amniocentesis test during the pregnancy will tell you if the fetus is thal.