Marriage risk with sickle cell and beta thalassemia traits?

Hello,

Welcome to icliniq.com.

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 a thalassemia sickle cell carrier (heterozygous). The presentation will be mild to moderate in such a case.

But, if by chance, a defective gene from both parents is combined, then the baby will have both defective genes. There is a 25% chance this can happen, and in such a case, the presentation is moderate to severe. Usually, the marriage of a thalassemia minor 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 cell trait can marry, but as per my opinion, it is better to do 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.

I hope this will help you.

Please feel free to follow up if you have any doubts.

Thank you.

Hello,

Welcome back to icliniq.com.

I will give you a further opinion on your case as follows.

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 heterozygote is acquired, then there will be slow growth, developmental 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 by your child:

1. Adult beta thalassemia (AB) gene.
2. Adult sickle (AS) gene.
3. Adult adult (AA) gene.
4. Beta thalassemia sickle (SB) gene.

So, if the SB gene is acquired, it can affect the child.

I hope this helps. I wish you good health.

Thannk you.