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.