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

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jach0019:
OK FINE PLEASE REPLY FOR MY CURIOSITY THAT:

(1)WHAT IS THE DIFFERENCE BETWEEN CHORIONIC VILLUS TEST OR AMNIOTIC TEST OR BOTH
THE TEST ARE SAME ONLY THE NAMES ARE DIFFERENT?

(2)WHAT THESE TESTS SHOWS IN THEIR RESULTS?

(3)IS IT POSSIBLE THROUGH THESE TESTS THAT THE INFANT HAS GOT  MINOR / INTERMEDIA MAJOR THAL?

(4)HOW MUCH IS THEIR ACCURACY? ARE THESE TEST ARE 100% ACCURATE?

(5) DO THE REPORT OF THESE TESTS GIVE THE PERFECT RESULTS OF HAEMOGLOBIN I MEAN TO SAY PERCENTAGE/QUANTITY OF DIFFERENT DIFFERENT CONTENTS LIKE  HB F, HBA ,HB A2 , HBD ,HB,HBF,HB RETICULOCYTE, SICKLING PHENOMENON ETC.

(6) DO THESE TESTS CARRY ANY RISK TO THE INFANT OR MOTHER

(7) IS THE TESTS OF PARENTS ARE ALSO REQUIRED FOR COMPARING TO OR FOR KNOWING THE RESULT OF THESE TESTS ?

 PLEASE REPLY, THANKS


Cari:
I can answer some of your questions on the testing as I have done both; an amnio and a CVS. 

A CVS is an earlier test done when the fetus is between 10-14 weeks. This is definitely a more invasive test as they will be gathering CELLS from the Chorionic villi.  These are tiny finger-shaped growths found in the placenta. The genetic material in chorionic villus cells is the same as that in the baby's cells. During CVS, a sample of the chorionic villus cells is taken for biopsy. 

The Amnio is usually done in the 4th to 5th month of pregnancy and this test takes fluid from the amniotic sac. 

The difference between both these test are as follows:
- CVS can be done earlier and this is beneficial for the mother as attachment to the baby grows so quickly.
 
- CVS was at one point considered to have a higher risk of miscarriage - however, these days this test is performed so often that the risks are the same as having an amnio. 

-CVS test can be done via the abdomen or via the cervix. 

-the pain associated with this is pretty minimal.  I have heard some people say they experience a slight cramping feeling.  This test for me was done through the abdomen and I personally did not feel anything during the process.

-The Amnio is done through the abdomen only.  It is supposed to be a lower risk for miscarriage however, as I explained both tests seem to be the same now.   The results just come a lot later and unlike a CVS this testing actually detects Spin bifida where as the CVS does not. 

-I would definitely recommend talking to your doctor about sending you to a center which specializes in these procedures.  2 years ago when I was sent to do my first CVS my doctor wasn’t comfortable for me going to the local hospital as they weren’t as experienced with CVS’s at the time.  This year I did go to the local hospital because they had been doing CVS’s often and were more comfortable.

As far as the other questions.  Yes, the test of the parent is required so that they are able to accurately look for and detect what they need from the sample.  They will also take blood from both or 1 parent at the time of the test to ensure that the sample they have taken is not contaminated with the mother’s cells.  This is done because when samples are taken it is possible for cells to be confused with that of the mother’s.

The test is about 98% accurate.  My test was sent to 2 labs to ensure accuracy.  However, I have heard of instances where the test was inaccurate.  Many times the inaccurate results are the ones that show the negative for thal major because it is a very difficult disorder to detect.  ESPECIALLY when they are unsure of the exact deletions. 

I hope that helps a bit.  TC and good luck!!

Manal:
Thanks Cari, this is very informative  :wink
Manal

jach0019:
DEAR SIR,

MY WIFE IS PREGNANT WITH 3-4 MONTH'S ,PERIOD  SO DURING DIAGNOSE, SHE CAME TO KNOW THAT HER HB IS VERY LOW SO THE  DOCTOR SUGGESTED HAEMOGLOBIN  ELECTROPHPRESIS TEST TO MY WIFE, AND IN THE REPORT IT IS DETECTED THAT SHE HAS MINOR THALASSAEMIA  HER REPORT OF THE TEST WAS REAVLED AS UNDER:

FOETAL HAEMOGLOBIN                       : 0.6%

HAEMOGLOBIN ELECTROPHORESIS   : A+A2 PATTERN SEEN

HAEMOGLOBIN A2 FRACTION            : 5.0%
(COLUMN CHROMATGRAPHY)

ABNORMAL HAEMOGLOBIN               : ABSENT

SICKLE CELL TEST                                   : NEGATIVE


IMPRESSION                                         : B THALASSAEMIA  (THALASSAEMIA MINOR)

SO IMMEDIATELY DOCTOR HAD TOLD ME TO GO FOR CERTAIN BLOOD TEST FOR KNOWING THALASSAEMIA MINOR IN ME ?

SO I HAD GONE FOR THE ABNORMAL HAEMOGLOBIN STUDY

THE STATICS OF MY REPORT ARE AS UNDER :

TYPE OF HB                             RESULT                         NORMAL VALUE

HB    -      F %                :        0.8                               LESS THAN 2.0
 
HB    -      A2 %              :        2.1                               LESS THAN 3.5
 
HB    -      D                    :        24.30                           NOT DETECTABLE

HB    -      S                    :       NOT DETECTED               NOT DETECTABLE

HB    -      C                    :       NOT DETECTED               NOT DETECTABLE

RETICULOCYTE               :       0.8%

SICKLING PHENOMENON   :       NEGATIVE

OTHER ABNORMALITY     :        -------------

IMPRESSION                   :      HETEROZYGOUS    FOR HB – D

NOW SIR ADVICE ME THAT ON THE BASIS OF THE ABOVEMENTIONED REPORTS IS THERE ANY POSSIBILITY THAT OUR NEW BORN CHILD WILL HAVE THAL MAJOR/INTERMEDIA

NOW HERE I WOULD LIKE TO KNOW HOW MUCH IS THE PERCENTAGE THAT OUR NEW BORN CHILD WILL HAVE THAL MINOR/MAJOR/INTERMEDIA

IS THERE ANY TEST,WHICH CAN DETERMINE THIS?

sushilaneja:
No worries for you , as you are not the THAL MINor , Baby will be effected only when both the parenets are Thal minor .

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