dear sir
i am 9 week pregnant, i carry Hb D trait and my husband is beta thalessemia minor. This is our first baby. please advice me on the basis of reports mentioned below,
1) is there any possibility of our new born child having thal major/intermedia?
2) if new born gets both the genes, what will be its effect on baby's health?
3) on the basis of the reports, what do you suggest whether there is a need to go for amniocentesis or not?
my electrophoresis report is as follows:
hb A 59.1
HB A2 3.0
HB F 0.2
HB S 0.0
HB D 34.5
HB C 0.0
UNKNOWN 3.4
IDENTIFIED
PEAK
COMMENT: HB D TRAIT HETEROZYGOUS STATE, HB A2 MAY BE SUPPRESSED IN HB D THUS MASKING THE PRESENCE OF BETA THALESSEMIA MINOR
MY COMPLETE BLOOD COUNT REPORT IS AS FOLLOWS:
FINDINGS REFERENCE RANGE
WBC TOTAL COUNT 10060 3500-10500
RBC COUNT 4.91 3.90-5.03
HB 11.7 12- 15.50
HAEMATOCRIT 33.5 35-45
MCV 68.2 81.60-98.30
MCH 23.8 27-33
MCHC 34.9 32-36
RDW 15.3 11.90-15.50
PLATELET COUNT 244000 150000-450000
NEUTROPHILS 70 40-70
LYMPHOCYTES 24 20-40
MONOCYTES 05 2-10
EOSINOPHILS 01 1-6
my husband electrophoresis is as follows:
HB F 0.30
HB A 95.60
HB A2 4.10
HB D ABSENT
HB S ABSENT
HB C ABSENT
HB UNKNOWN ABSENT
IMPRESSION: HB A2 INCREASED, ADVISED DNA STUDIES TO CONFIRM BETA THALESSEMIA
WE WENT FOR FURTHER TESTS 3 YEARS BACK AFTER WE GOT MARRIED
TEST NAME: MOLECULAR GENETIC ANALYSIS FOR HEREDITARY PERSISTANCE OF FETAL HB AND DELTA BETA THALESSEMIA
THE GENOMIC DNA OF ME AND MY HUSBAND WAS TESTED FOR THE PRESENCE OF DELETIONS IN BETA GLOBIN GENE COMPLEC ON CHROMOSOME 11 THAT HAVE BEEN FOUND ASSOCIATED WITH HPFH AND DELTA BETA THALESSEMIA
RESULT: HPFH-1 NEGATIVE
HPFH-2 NEGATIVE
HPFH-3 NEGATIVE
ASIAN INDIAN G(GAMMA) NEGATIVE
TEST: MUTATION ANALYSIS FOR BETA GLOBIN GENE
RESULT: FOR ME: NEGATIVE FOR FIVE COMMON INDIAN MUTATIONS(IVS1-5, IVS1-1, Fr8-9, Fr 41-42, 619bp deletions) and negative for cap+1 mutation as well
for my husband: negative for five common mutations as mentioned above
positive for cap+1 mutation (cap+1 mutation was found in his sister, sister husband was thal minor so his sister daughter is intermedia)
provided all info as far as possible, please advice on the questions asked above as i m really scared.
thank you in advance