Discussion Forums > Thalassemia Major

what will happen if genes of thal a2 and hbd will come together in the newborn

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Andy Battaglia:
I have merged the two topics. The questions have all been answered. Please read the replies.

GARVINM:
Hello,

Me and my wife are expecting our first child. Her POG is 17 Weeks + 3 days. Our HPLC report status is a follows

WIFE HPLC

Hb F            2.40 %     

PEAK 2        4.80 %

PEAK 3         4.60 %

Hb ADULT     82 %

Hb A2             5.00 %

Hb D(PUNJAB)  0.00

Hb Sickle          0.00

Hb C                 0.00

HB E                0.00

Hemoglobin       10.9 gm/dl

Interpretation : HPLC Findings are consistent with a Thalassemia trait/Minor.

HUSBAND HPLC

Hb F             < 1.00 %

Peak 2           2.60 %

Hb Adult        56.30 %

Hb A2            3.0 %

Hb D             40.7 %

others             7.20 %

Hemoglobin      15.40 g/dl

RBC Count        5.40 mill/mm3

PCV                    51.80 %

MCV                   95.90 fL

MCH                  28.50 pg

RDW                 13.50 %

Interpretation: HB D (PUNJAB) Trait (Heterozygous State). Hb A2 may be suppressed in HB D thus masking the presence of Beta Thalassemia Minor.


Based on the above results we also gone through a GENETIC ANALYSIS for HBB Gene Sequencing (ENST00000335295.4). Results of that are as follows:

Wife : was found to be heterozygous for variation c.27_28insG in HBB Gene and
Husband : was found to be homozygous for variation c.364 G>C in HBB Gene.

Details of Mutation: This variation has been reported in dbSNP, 1000 Genomes, ExAC and HGMD as disease causing respectively.

Methods : In the DNA sample extracted from EDTA Blood, HBB gene was amplified by PCR and was sequenced using Bidirectional Sanger Sequencing (Bigdye v3.1)

Now, I wanted to know, based on the above case history what are the chances of our baby to be Thal Minor/Thal Major/Thal Intermedia/Normal/HBD or any other problem?

Are there chances of any other problem to the child?   

We have been told to go for CVS to confirm, so Should we go for CVS to confirm this?

Our CVS is planned for tomorrow, and we want to avoid that looking at the Risks involved, but we also don't want our child to be suffer from any thalassemia problems.

PLEASE SUGGEST ASAP.

Andy Battaglia:
If the fetus carries both, it can result in a mild to moderate outcome for the baby. The child could be anywhere from thal minor to mild thal intermedia. Not a severe condition.

GARVINM:
Thanks for replying.

What are the consequences of having mild to moderate thalassemia intermedia..? Will the child have normal growth..? At any stage will child require transfusion..?

Should we go for cvs to confirm?? And will cvs confirm thalassemia status clearly in the child..?  Please confirm

Andy Battaglia:
Your wife is thal minor, so that is what it would be like if the child had that phenotype. If it is a mild intermedia phenotype, the Hb would probably be in the 8-9 range, where transfusions are not needed, but anemia would definitely be present. There is a 25% chance the fetus will carry both genes. CVS isn't absolutely necessary, but it would do a lot to ease your minds during the pregnancy if you know what the fetus is carrying.

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