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I have beta thalassemia plus trait (AT+) and want to marry a man with sickle trait (AS). Please see the attached file of my beta thalassemia DNA genetics. Please give me the possibilities of our baby. I know there is a 25 % chance that the baby might have sickle beta plus thalassemia (ST+). But, will the symptoms be severe or mild or that of a carrier with very slight symptoms, that he/she will not need blood transfusions at all. What is your recommendation doctor? We love each other and want to be sure about our baby in the future. I am looking forward to your reply
I have seen the reports (attachment removed to protect patient identity).
Thalassemia and sickle cell anemia are autosomal recessive disorders. In your case, the child can be thalassemia sickle cell carrier (heterozygous). The presentation will be mild to moderate in such case.
But, if by chance, a defective gene from both parents combined then the baby will have both genes defective. There is a 25 % chance this can happen, and in such a case, the presentation is moderate to severe. Usually, the marriage of thalassemia minor person with another thalassemia minor is not advisable due to high chances of genetic anomalies.
In your case, the clinical features are determined by the beta thalassemia gene. The presentation is usually severe only if the beta zero gene is acquired in which the beta chain synthesis is reduced to a large extent. But here, a double heterozygous state that is HBSbeta+ seems most likely to be acquired and it can present a picture like that of thalassemia intermedia with mild growth retardation and vaso-occlusive crisis.
Thalassemia minor and sickle trait can marry, but as per my opinion, it is better to do a genetic counseling with a nearby gynecologist or a molecular pathologist for a decision. Usually, in such cases, the patient will not need a repeated blood transfusion as compared to thalassemia major cases.
But, I would be grateful if you can give me more details of the symptoms we can expect in the baby if he got sickle beta plus thalassemia (ST+). According to the attached reports, which symptoms might the baby have in his life generally? Will his life be a normal one?
Hereby I am giving a further opinion for your case as below.
If your child acquires AB, AS or AA genotype, then there will be no problem and he can live a normal life.
Since there is a 25 % chance of acquiring SB (sickle plus beta thalassemia double heterozygous) in your future child, if that happens, the presentation will be moderate. The presentation will neither be like that of sickle cell anemia nor that of thalassemia major, but more intermediate in nature. So, if a double heterozygous is acquired, then there will be slow growth, development retardation, pallor, vaso-occlusive crisis, bone pain, etc. But usually, such cases will not require a regular blood transfusion. The presentation, I can say, is intermediate in nature, like that of thalassemia intermedia.
These four types of genes can be acquired in your child:
Adult beta thalassemia (AB) gene.
Adult sickle (AS) gene.
Adult adult (AA) gene.
Beta thalassemia sickle (SB) gene.
So, if SB gene is acquired, then it can affect the child.Take care. Hope this helps. Wish you good health.
What does my hemoglobin variant analysis test indicate? Query:
I am a 38 year old male. My height is 5'3", and I weigh 69 kg. Recently, I had a health checkup. Please check the attached reports and advise me if any treatment is required. The hemoglobin variant analysis test is showing hemoglobin A 68.6 and hemoglobin S 29.6. Please let me know wh... Read Full »
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Based on your query and attached reports, my opinion is as follows: (attachment removed to protect patient identity)
Increased HbS with reduced HbA at this age suggests possible sickle cell trait disease. Most important evaluation is the possibility of the transfer of ...
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Welcome to icliniq.com.
Let me explain you about beta thalassemia trait. It is good that you are aware of using online health portal. Beta thalassemia trait is the heterozygous condition and the patient can live a normal life. If nutrition is not maintained properly and if any unusual excess b...
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