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

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jach0019:
HI, I AM IN MUMBAI,INDIA ,IN THE YEAR 2001 WHILE MY WIFE WAS PREGNANT WITH 7 MONTH'S ,PERIOD  SO DURING DIAGNOSE, SHE CAME TO KNOW THAT SHE HAS MINOR THALASSAEMIA , THE DOCTOR SUGGESTED HAEMOGLOBIN  ELECTROPHPRESIS TEST TO MY WIFE,  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 THAT IS THERE ANY THALASSAEMIA MINOR?

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.                             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

AFTER OBSERVING THIS REPORT THE DOCTOR TOLD ME THAT NOW THERE IS NO NEED TO WORRY BECAUSE YOU DON'T HAVE THE THALASSAEMIA MINOR SO THE NEW BORN CHILD WILL MAXIMUM TO MAXIMUM WILL HAVE THALASSAEMIA MINOR

AND THAN MY WIFE DELIVERED A GIRL CHILD SHE IS NOW 10 YEARS OLD , HEIGHT 128 CMS,WEIGHT 29KG AND HAVE BEEN NEVER DIGNOISED FOR ANY TYPE OF DISEASE IN FACT NEVER ANY CLINICAL ISSUE HAS ACCRUED FOR WHICH SHE HAVE REQUIRED ANY MEDICAL HELP.
WHEN SHE WAS 6 AND HALF YEARS OLD AND WE HAD DONE HER
HAEMOGRAM TEST REPORT OF WHICH DONE ON SYSMEX KX-21-NORMAL VALUE ACCRDING TO SEX AND AGE

HER REPORT REVEALED AS UNDER:

   TEST                                                 RESULT                                      NORMAL VALUE

HAEMOBLOBIN                                     10.1     G/DL                          11.5-14.5     G/DL

TOTAL WBC COUNT                              8000    /CMM                       5000-14500 /CMM

DIFFERENTIAL LEUCOCYTE COUNT

POLYMORPHS                                      40         %                                 36-66   %

LYMPHOCYTES                                    48         %                                  37-47   %

EOSINOPHILS                                      09        %                                   UPTO 7  %

MONOCYTES                                       03        %                                 UPTO  10  %


SMEAR STUDY
--------------------
ON SMEAR         RBCS: MILDLY HYPOCHROMIC & MICROCYTIC
                        PLATELETS: ADEQUATE & NORMAL
                        PREMATURE CELLS : NOT SEEN
                        BLOOD PARASITES : NOT SEEN

RBC INDICES                               RESULT                                 NORMAL VALUE
------------------                            -----------------                            ------------------------

RBC COUNT                              5.38     M/UL                             4.0  -   5.3  M/UL

HCT                                        32.7     %                                  33   -  43   %

MCV                                        60.8   FL                                    76   -  90   FL

MCH                                       18.8  PG                                     25   -  31   PG

MCHC                                     30.9  G/DL                                  32   -  36  G/DL

RDW                                      10.2  %                                     11.5  -   15.0   %

PLATELETS COUNT                362000  /CUMM                          142000-524000 /CUMM[/b]
------------------------                      

       ANOTHER TEST REPORT OF MY DAUGHTER OF NORMAL AND ABNORMAL HAEMOGLOBIN QUANTIFICATION BY HPLC (BY BIORAD VARIANT)

    TEST                                        RESULTS                                     NORMAL VALUE
--------------                                   ------------------                                -----------------------

HBA (ADULT)                                 29.00   %       L (LOW)              94.30   -  98.50

HBA2 QUANTIFICATION                    3.20     %                                 1.50   -   3.70

HBS  (SICKLE)                                 0.00     %                                  0.00   -  0.00
 
FOETAL HB                                    6.00     %     H H (VERY HIGH)      0.00    -  2.00

SICKLING TEST                              NEGATIVE
(BY SODIUM DITHIONATE )

ABNORMAL HAEMOGLOBIN             HBD IS 61% OF TOTAL HAEMOGLOBIN

INTERPRETATION OF                    HP;C PATTERN IS SUGGESTIVE OF HBD DISEASE
CHROMATOGRAM                

SO HERE PLEASE LET ME ADVICE WHAT IS HBD61% HAS BEEN DETECTED TO MY DAUGHTER  SO IS IT A TYPE OF THALASSAEMIA IF YES THAN WHAT TYPE MINOR OR INTERMEDIA WHERE AS SHE IS HAVING A VERY NORMAL LIFE, IS THERE ANY PROBLE SHE MAY FACE IN THE FUTURE, DOCTOR ARE SAYING THAT SHE IS NOT HAVING THE  MINOR THALASSAEMIA BUT PROBLEM OF ANEMIA SHE HAS.

NOW AT THE PRESENT MOVEMENT MY WIFE IS AGAIN PREGNANT SINCE MY WIFE IS THAL. MINOR AND I HAVE BEEN DETECTED HBD  SO PLEASE ADVICE US THAT HOW MUCH POSSIBILITY IS THERE  THAT OUR NEW BORN CHILD WILL HAVE:

(1) THALASSAEMIA MAJOR/INTERMEDIA/MINOR/NORMAL  

(2)IF NEW BORN GETS BOTH THE GENES THAT IS THALASSAEMIA MINOR FROM MOTHER AND HBD FROM  FATHER  THAN WHAT WILL HAPPEN TO ITS HEALTH

(3) IS THERE ANY TEST BY DOING THAT WE CAN COME TO KNOW THAT WHAT EXACTLY OUR CHILD WILL HAVE LIKE THALASSAEMIA MAJOR/INFOMEDIA/MINOR/NORMAL AND WILL YOU SUGGEST US TO GO FOR THAT TEST AND IN THAT TEST WILL THERE BE ANY PROBLE OF LIFE TO THE NEW BORN OR TO MY WIFE.

PLEASE REPLY,

THANKS IN ADVANCE,

Andy Battaglia:
Your daughter appears to have Heterozygous Hemoglobin D/Beta (β)-thalassemia. This is a result of the mother carrying beta plus thal trait and you carrying HbD trait. I say beta plus because your daughter has HbA present and there would be none if your wife carrier beta zero. This condition manifests in a mild anemia, as noted in your daughter's Hb of 10. This is anemic but not serious. This is also as severe as this condition normally will be, and since it is the result of both parents passing on a gene defect, this means that your new child will be either like your 10 year old or not be affected much at all if only one or neither gene defect is carried.

http://health.utah.gov/newbornscreening/Disorders/English/HB/FactSheetProv_HBD_En.pdf

Quote

Heterozygous Hemoglobin D/Beta (β)-thalassemia:
Infants with heterozygous Hb D/β-thalassemia may be asymptomatic and have mild to moderate
hemolytic anemia depending upon the degree of β-thalassemia affecting the A gene. It usually develops
in the first few months of life as the amount of Hb F decreases and Hb D increases. Those with Hb
D/β+-thalassemia have some Hb A and are more likely to have mild to moderate anemia and a nonpalpable
spleen. Children with hemoglobin D/βº-thalassemia syndrome have no Hb A, exhibiting
symptomatic anemia with splenomegaly and may have a moderately severe clinical disorder. Because
RBC indices are abnormal in Hb D/β-thalassemia, iron deficiency may develop.
Essential Steps


You can check the status of the fetus later on during the pregnancy with an amniocentesis, but I see no reason for any obtrusive test. Your daughter would be considered thalassemia minor. She can expect a lifelong mild anemia and may find some benefit in certain vitamins and supplements, along with a nutritious diet. I do encourage folic acid as a supplement to help build healthy red blood cells. The traditional Indian spices used in cooking are known to be beneficial and are encouraged. Your new child will be either normal or thal minor. I see no reason for concern. Your doctor is correct to say thal minor at the most.

Andy Battaglia:
As a general point of interest in this combination, I do want to mention that if beta zero minor is combined with HbD, a more severe condition will be found, possibly leading to splenectomy and even occasional transfusion. The fact that in this particular case, there is an HbA level of 29% in the daughter shows that the mother is a beta plus thal carrier and not beta zero, as there would be no HbA in that case and the health would hinge on how much HbD and HbF was produced. I am happy to see that in this case it is the milder form.

jach0019:
first of all thank you very much for providing the great services to the human being sir your knowledge on the thal is more than the doctors .sir once again i am asking that are are sure that there is no need of amniocentesis test ? Because as you are advising that at the  most, maximum to maximum our new born child will have thal minor and not the thal intermedia or thal major, we also don't want the thal intermedia or thal major child.
secondly i would like to know that in the amniocentesis test can we come to know that our new born is normal/ thal minor/thal intermedia/thal major or we can come to know only about thal minor and thal major further can we come to know the count (precentage) of the deffected genes in the new born because it is the result of both parents passing on a gene since mother carrying  beta plus thal trait and you (father) carrying HbD trait.

hanks in advance.
 

Andy Battaglia:
I see no reason to do an amnio. Your daughter appears to carry the two thalassemia genes from the parents, both beta thal minor and HbD thal. The high HbF of 6% is typical for beta thal minor. The HbA2 level is normal and not usually seen with thal minors, where it is higher, as in your wife (5%). This is due to the effect of the HbD, which masks the presence of thal minor, but in this case, the HbF level is what would be expected if beta minor is present. The presence of HbA in your daughter shows that her beta gene cannot be zero, because the gene she received from you produces HbD and no HbA, so her HbA production has to come from the mother's gene, which means it has to be beta plus and not beta zero. Interestingly, since I last posted on this topic, we have a new member who does have HbD beta zero thal and still carries a good Hb level without transfusion. The HbD compensates for HbA, but it does break down sooner, sometimes causing some enlargement of the spleen. This is unlikely to be much, if any problem for your daughter. Your daughter already has the defective genes from each parent without any problem other than very mild anemia and any other children should be no worse.

I had previously mentioned that Hb lepore is sometimes seen with HbD, but there is no mention of any other hemoglobin variants in the tests, and there would be no HbA present if your daughter carried the lepore variation, so this seems impossible in this case.

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