Thalassemia and Inheritance

Hi,

I am from India, 25 years old and working. Recently, i had a complain of weakness. My doctor asked me to go for CBC and followed by that HPLC/Electrophoresis. Please find below my report.

Hb  F                           : 3.10 %         (<1.50)
Peak 2                         : 0.40 %        (<9.60)
Hb Adult                       : 8.10 %       (83.24-90.79)
Hb A2                          :3.50%           (1.50 - 3.50)
Hb D                            : 77.40 %         
Others ( non specific)     :7.20 %            (<10.00)

 Suggestive interpretation : Hemoglobin D (Punjab) with Beta Thalassemia Minor

followed by this ,my parents were also asked to go for the same test. Please fnd below the reports
Father :
Hb  F                           : <1.00 %         (<1.50)
Peak 2                         : 4.10 %        (<9.60)
Hb Adult                       : 82.80 %       (83.24-90.79)
Hb A2                          :5.80%           (1.50 - 3.50)           
Others ( non specific)     :5.80 %            (<10.00)

 Suggestive interpretation :  Beta Thalassemia Minor
mother :
Hb  F                           : <1.00 %         (<1.50)
Peak 2                         : 2.70 %        (<9.60)
Hb Adult                       : 54.20 %       (83.24-90.79)
Hb A2                          :2.40%           (1.50 - 3.50)
Hb D                            : 34.10 %         
Others ( non specific)     :6.20 %            (<10.00)

 Suggestive interpretation : Hemoglobin D (Punjab) Trait ( Heterozygous state)

looking at the above reports, my doctor ( an hematologist) asked my father if i am their adopted child . My father replied in negative stating that i am their own child.

However, i want to seek a second opinion on whether there is really any anamoly with the reports in terms of i being adopted and not real whch can be inferred from the above findings.

request experts for honest advice.
please let me know if the reports suggests that i am adopted. if yes, what is the % probability of i being adopted.

Hi aakash0007,

According to these reports, you carry both HbD and beta thal minor. There are two beta globin genes, and you receive one from each parent. Your father and mother each have one normal beta globin gene. Your father also has one beta thal globin gene and your mother has an HbD gene as her other beta globin gene. So, there is a 50% chance of each parent passing on the mutated gene and 50% normal gene. Together, there is a 25% chance that each child of theirs will carry both mutated genes. You fall into that category. I see absolutely nothing in these reports that would indicate that your parents are not biologically your parents. If you carry both genes, one (HbD) had to come from your mother and the beta thal gene had to come from a beta thal minor, most likely your father. So, for your parents not to be your parents would require that they adopted a child who carried those same genes, which is highly unlikely because the combination is fairly rare. I see no reason to doubt your parents.

Because you do have some HbA, it means your beta thal gene is + and not zero, so some beta globin is produced. Your Hb will most likely be classified anemic, but if it was beta zero, your anemia would be much worse. Weakness and tiredness are common symptoms of anemia.

To read more about HbD, see http://health.utah.gov/newbornscreening/Disorders/HB/Hb_D_Disease_DD/FactSheet_Provider_HbDD_En.pdf

Thanks Andy.

As you have mentioned  If you carry both genes, one (HbD) had to come from your mother and the beta thal gene had to come from a beta thal minor, most likely your father.

does most likely can also be inferred as my father is not my biological father or may not be my biological father , however my mother is my biological mother?
if yes, what is the % probability for the same?

If your mother had a child with any beta thal minor, there is a 25% chance that the outcome would be HbD beta thal, which is the same odds if your father had a child with any woman who carried HbD. These tests are not paternity tests. But they do show that one of your parents carries HbD and the other beta thal. I cannot tell you any odds, because every time a couple carrying those traits have a child, it is always the same odds that the offspring will carry both, 25%. But because this is not a paternity test,  we cannot mathematically say 100% that your parents are your parents. I think the odds of two people carrying these sets of genes could adopt a child that carried both, meaning that child's parents had the same combination of genes as your parents, is very low. You carry the genes each of your parents carries. I have no idea why the hematologist would ask that question, but the vast majority of hematologists have very little training or experience with thalassemia, and often advise patients incorrectly. The doctor has created doubts with a really stupid question that in absolutely NO way is based on the test results that you have presented.

Hi Andy,

I have met my hematologist personally and asked the reasoning behind the question. In reply,what was mentioned to me was that my HbA2 level is low and within range, Also  something like  typically autosomal recessive, dominant transmission is seen was mentioned.

the values in the detailed blood report alone is not sufficient to classify me as Hb D beta thal. However reading it together with the report of father , classifies it differetly.

i have not understood it completely and hence the present query.
i was further indicated indirectly that my father is not my biological father.

i may be bothering you with repeated queries. however, i hope u understand that it is really affecting me. Hence ,  i request your understanding on this.

Aakash,

As Andy mentioned, this is NOT a paternity test. The results indicate there is no reason to doubt your biological parents. Your father is Beta Thal Minor and mother is Hemoglobin D and your blood reports both those. What is there to doubt here? Genetics is very complex and sometimes can be misleading. The doctor's can never guarantee 100%. The reason is simple. The internals of the body cannot be studied 100% by anyone. What doctors learn in medical school is what they have known so far. I would say "Get the doubt out of your mind and enjoy your life".

aakash0007,

I only have the information that you provided which did classify you as HbD beta thal, and classified your mother as HbD and your father as beta minor. Everything I have said is based on that information, and it really is nothing more than very simple math. The HbA2 level of a minor will be different than that of one with minor and HbD.

I think you will not be satisfied until you have a paternity test run. If you have health issues you wish to discuss, please do so, but this is not the forum for pursuing paternity issues. I think you should be discussing this with your parents and not in a public forum.

Most doctors in India at least creates more doubts than tend to solve anything. I do not see anything abnormal as Andy said, chances are very low. When I was small too (I'm thal major), I used to go to places where people had very sparse knowledge of thalassemia major and all and used to comment that I could hardly live in my early 14 or so, but I'm 18 today. People still say that there is one who died recently nearby who was 30 or so but I don't tend to hear those.

Just enjoy the life. And yes, as others said, if it's bothering you, maybe talk to your parents that it's bothering you so much and that you want to do paternity tests just to get the doubt out of your mind.

-P.