beta thalessemia minor+Hb D TRAIT, please advice

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beta thalessemia minor+Hb D TRAIT, please advice
« on: February 03, 2015, 12:35:45 PM »
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

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Offline Andy Battaglia

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  • Will thal rule you or will you rule thal?
Re: beta thalessemia minor+Hb D TRAIT, please advice
« Reply #1 on: February 03, 2015, 03:30:40 PM »
HbD can cause a transfusion dependent intermedia thalassemia when combined with beta trait. You are negative for the ASIAN INDIAN G(GAMMA), so that may make the odds of a non-transfusing silent carrier more likely, but I think to be safe the Chorionic villus sampling (CVS) test should be done between 10-13 weeks to see exactly what the fetus carries.
Andy

All we are saying is give thals a chance.

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Offline jay

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Re: beta thalessemia minor+Hb D TRAIT, please advice
« Reply #2 on: February 04, 2015, 07:14:59 AM »
Hi Jasleen,
I am glad that you are aware of these things and have done all the tests you can do I must say you are on right track at the last moment.
There are so many mutations on HBB gene on chromosome-11, not just 5 OR 6.
The genetic tests are designed in such a way that to cover most found mutations to reduce the price, hence most of Indian laboratories tests for only 5 mutations.
And that's why they were not able to catch your mutation and that means that most probably they will not be able to catch it for the 'Chorionic villus sampling'

Yes CVS test should be done; but how will you interpret it? Here is how I will; considering you both have only carrier type mutation:
If CVS is positive for CAP+1 then two possibilities 1. fetus is carrier for both the mutation beta-thal and Hb D :( OR 2. fetus is only carrier for CAP+1 like your husband.
If CVS is Negative for CAP+1 then two possibilities 1. fetus is carrier for Hb D like you OR 2. fetus is free from both mutations. :)



 

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