Q. Will beta thalassemia minor affect the relationship DNA test?

Answered by
Dr. Prakash H Muddegowda
and medically reviewed by iCliniq medical review team.
This is a premium question & answer published on May 24, 2016 and last reviewed on: Mar 18, 2020

Hi doctor,

I am beta thalassemia minor. If I go for a relationship DNA test with my son, will the DNA report be false due to this?



Welcome to icliniq.com.

Based on your query, my opinion is as follows:

  • No, relationship DNA test will not be affected.
  • It is autosomal related. He may or may not be a carrier. DNA test will look at multiple patterns.
  • If you want, you can go for DNA test. Being affected from thalassemia is not going to affect the test.

For further information consult a hematologist online --> https://www.icliniq.com/ask-a-doctor-online/hematologist

Thank you doctor,

I have a few more doubts. Kindly clarify. If I want to go for a relationship DNA test with my son, will the test be done from white blood cells and not from RBC? Is relationship DNA test always from WBC? For a beta thalassemia carrier, chromosome number 11 is affected and beta globulin of hemoglobin does not perform properly. If RBCs do not have DNA then how chromosome is coming into the picture? If I go for a DNA test then the allele size of me and my son's will be compared. In case of beta thalassemia minor the sizes of RBCs are smaller. Hence, will the allele sizes will also be smaller? I do not know whether my son is a carrier of beta thalassemia like me or not. In both the cases, is there any chance that the allele size will be affected and I will not get a true DNA test report to establish biological relationship with my son? In case of beta thalassemia carrier only the red blood cells get affected? Would DNA of RBC and WBC match? Can I go for a relationship DNA test being a beta thalassemia carrier? Will the test result appear correct whether my son is a carrier or not? Please clarify.



Welcome back to icliniq.com.

Based on your query, my opinion is as follows:

  • RBC - red blood cell is an anucleate cell. While coming out of the bone marrow, it loses the nucleus and hence, without a nucleus DNA test cannot be done.
  • WBC (white blood cell) is the only blood cell, containing nucleus. So, DNA test can be done on that.
  • Immature RBC while it was in the marrow is called as a normoblast and this normoblast contains nucleus. Every cell in the body has a nucleus to develop certain physiological characteristics.
  • The RBC has developed the characteristics of thalassemia while it was a normoblast and when it is coming out the marrow, it is mature and it loses the nucleus. By this point, chromosome 11, would have affected its characteristics and the cells will be smaller and hypochromic with features of thalassemia. During formation, they are affected.
  • The RBCs are smaller because the RBC contains two components, heme and globin. Thalassemia is a disorder of globin synthesis and hence as it is not synthesized, the RBC will be smaller. The alleles will be normal size only.
  • As earlier told, thalassemia is a disorder of globin synthesis and it is exclusively found in RBC. Hence, WBC or platelets is not affected.
  • Yes, if necessary you can go for test. Child being carrier or not cannot decide the relationship, as the particular gene or allele may not have been carried.
  • If you were not a carrier (one gene affected) and a trait (both gene affected), then definitely one gene would have carried. Here you being a carrier, it may not have carried.
  • The kid might or might not have inherited the carrier gene and hence he might be completely safe. However, this is not going to affect the DNA test in any way.

For further doubts consult a hematologist online --> https://www.icliniq.com/ask-a-doctor-online/hematologist

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