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First successful pregnancy after preimplantation genetic diagnosis for Hemophilia A in Asia

First successful pregnancy after preimplantation genetic diagnosis for Haemophilia A in Asia
AuthorHsing-Hua Lai, Huai-Ling Wang, Shih-Chieh Huang, Wen-Yi Chiang
EditorHui-Ling Kao
Seminar name2010 TSRM
KeywordPGD, inherited disease, IVF
PDF download
    Haemophilia A, the most common X-linked disorder affecting males, results from deficient or defective coagulation factor VIII which impairs the coagulation cascade (Fig. 1) and causes bleeding symptoms. In Taiwan, there are about 1000 haemophilia patients, where the cost on medication is 2,300 million dollars per year. Different types of factor VIII gene mutation have been characterized and among which, intron 22 inversion is the most seen and responsible for 45% of severe HA cases.
    The conventional way for HA patients to have an unaffected child is to play “reproductive roulette” and give up all male babies. Preimplantation genetic diagnosis (PGD) provides an alternative strategy for couples carrying HA to conceive a healthy child without sex selection hence to reduce the mental pressure and medical cost. This technique can be performed on blastomere or trophectoderm cells. The DNA in each cell is analyzed for a specific gene mutation, i.e. factor VIII gene in HA. In recent years, the need of PGD for HA is increasing.



Material and Method

Embryo culture, biopsy and cryopreservation
All embryos were cultured in single media (LifeGlobal). On day 3 post-oocyte retrieval, embryos that were in ≥6 cell stage and had ≤20% fragmentation were biopsied with non-contact laser. From each embryo, one blastomere was aspirated, collected separately into a PCR tube, stored at -20℃ and then sent to a standard PGD laboratory for factor VIII gene intron 22 inversion analysis.
Embryos were further cultured to day 5 and vitrified by Cryotop method. After the PGD results came out, frozen/thawed unaffected embryos with best quality were transferred. Thawing procedure was as described in Cryotop method.

Mutation analysis and PGD
Patient buccal cell DNA was obtained for construction of customized DNA probe. DNA from each blastomere was tested by a polymerase chain reaction (PCR) protocol using ABI 3130 Genetic Analyzer. Factor VIII gene amplification was followed by the second PCR round using the customized probes as primers. The final PCR products were subjected to capillary electrophoresis and analyzed by GeneMapper for allele identification.

Results

Patient
The patient is a 38-year-old HA carrier female whose first son died from HA in infant age. Family linkage analysis was performed earlier and the mutation type was determined as intron 22 inversion. 10 years after, she came to our clinic for the help of IVF because of diminished ovarian reserve. Pregnancy was achieved but ended in termination due to HA affected fetus. Later on, she approached PGD and went through IVF again.
IVF results
In total, ten mature oocytes were retrieved and nine zygotes were obtained. At day 3, all nine embryos were qualified to biopsy. Two embryos stopped growing at day 4. Till day 5, embryo vitrification was carried out on the other seven embryos.
PGD results
The factor VIII genotype was determined based on amplicon size compared with the maternal microsatellite markers. The data showed in Fig. 2 were two different markers and two representative embryo allele status (normal and affected). Nine specimens were successfully analyzed and the PGD results were: 1 carrier, 4 mutant and 4 normal embryos (Tab. 1). The genotyping rate was 100%.
Tab. 1 PGD results.
No.12345
Embryo stage (D5)Early blastocystArrestedEarly blastocystEarly blastocystEarly blastocyst
Genotypecarriermutantnormalnormalmutant
No.6789
Embryo stage (D5)BlastocystBlastocystEarly blastocystArrested
Genotypemutantnormalnormalmutant
Clinical outcome
Single frozen/thawed blastocyst with normal factor VIII genotype (embryo 7 in Tab. 1) was transferred back on day 21 of the patient’s natural cycle. Pregnancy was achieved. Serum b-hCG was 2004.43 mIU/mL on day 16 after embryo transfer. Amniocentesis was concordant with the PGD result as a normal male baby.

Conclusion

We report a successful pregnancy of a HA carrier with the help of PGD, proving that PGD as an alternative diagnosis in HA is feasible.
Stork Fertility Center送子鳥 Stork Fertility Center送子鳥 Author

39 comments:

  1. Impressive and interesting blog! Your post is really good very well written and useful to all blogger especially for me.

    PGD Preimplantation genetic diagnosis

    ReplyDelete
    Replies
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    9. Thanks to dr.ezomo for his good work I never believe that ALS has cure, I was ALS over 3 year now before I came across a comment about how
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      night luckily to me he replied me, but I dont believe him I thought it was
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      truth he ask for some details about me i gave him all he needed and I
      waited to see his reply to my problem after all, he told me to go for check
      up and I went for HIV test I cant believe I was negative,am so happy and
      grateful to God for using Dr ezomo to cure me, that is the reason why i
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  2. WOW ALL THANKS TO DR WILLIAMS I HAVE NEVER BELIEVE IN HERBAL REMEDIES.
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  3. My husband left me with 3 Children and went to stay with his Mistress whom i felt use a spell on him, I felt like ending it all, i almost committed suicide because he left us with nothing, i was emotionally down. But all thanks goes to Baba Alika, who i met online on one faithful day, as I was searching for tips to get my husband back home, I came across several testimonies about this particular man. Some people testified that he brought their Ex lover back, some testified that he help them to get pregnant,cure herpes simplex virus,and other sickness, and some testified that he prayed to stop divorce. He is amazing, i also come across one particular testimony, it was about a woman called Angeline, she testified about how he brought back her Ex lover in less than 2 days, and at the end of her testimony she dropped his email (babaalikahealinghome@gmail.com) After reading all these testimonies, I decided to give it a try. I contacted him and explained my problem to him. In just 48 hours, my husband came back to me. We resolved our issues, and we are even happier than ever. Baba Alika you are a gifted man and thank you for everything you had done in my life. If you have a problem and you are looking for a real and genuine spell caster, Try him anytime, he is the answer to your problems. you can contact him on email: babaalikahealinghome@gmail.com. he will surely help you solve your problem.

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  4. Having haemophilia A this means that his body, his immune system, fights off the medicine – the infused factor VIII. The alternative clotting factors that we used to control bleeding were much less effective. His medical condition was heart broken. Despite our visit to several doctors his health wasn't getting better. He was subjected to different medications, by many doctors for treatment without the assurance of having a permanent cure. Having a son with hemophilia and then, the added challenge of an inhibitor, is not always easy. Suspicion that something wasn’t right began when he was 6 months old due to the heavy amount of bruising which started showing up all over his legs. As a parent, I would love to fix things and make everything better. Fortunately, there have been other positive alternative (Herbal Medicine) though few people doesn't know the challenges of living with hemophilia. If your child is having same problem, do not expose him/her to more danger, use a herbal remedy that is safe and effective. Contact him directly for more info with his email address: sharmash116@gmail.com

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  5. What a great and inspiring story! I was married for seven years without any child, because of this my husband start acting strange, coming home lately and not spending time with me any more and he divorced me. So i became very sad and lost in life because my doctor told me there is no way for me to get pregnant this really make life miserable for me. until i came across a friend who told me about Baba Alika from the Internet, how he has helped a lot of women with this similar problems that i am going through so i contacted him on: (babaalikahealinghome@yahoo.com) and explained to him. he told me all what to provide before he could cast a reunite spell to bring back my husband which i did and he sent a powerful prayer which i had to say at mid night while he cast the love spell. It was a miracle, 24 hours later my one and only husband came back to me and apologize for all he has done and told me he is fully ready to support me in any thing i want,i quickly call Baba Alika and told him what was going on at that moment, and he also prepared and sent me a herbal medicine which he said it will cure every unwanted diseases or infections that has been stopping me from conceiving then instructed me on how to use it before meeting with my husband. Behold after using this native herbs and root, few weeks later i started feeling pregnancy signs all over me, truly i was pregnant i just gave birth to twins (boys) on the 1st of this month. I Vow to let the whole world know about Baba Alika for saving my relationship and for also giving me children i can proudly call my own today. For any woman who think it impossible, here is an opportunity for you to smile and bring happiness to your family kindly contact Baba Alika via Email on: (babaalikahealinghome@yahoo.com). Indeed, he is a God sent to bring back lost lovers and bring you happiness...

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  6. I have been suffering from (HERPES) disease for the last four years and had constant pain, especially in my knees. During the first year, I had faith in God that I would be healed someday.This disease started to circulate all over my body and I have been taking treatment from my doctor, a few weeks ago I came on search on the internet if I could get any information concerning the prevention of this disease, on my search I saw a testimony of someone who has been healed from (Hepatitis B and Cancer) by this Man Dr. Silver and she also gave the email address of this man and advise we should contact him for any sickness that he would be of help, so I wrote to Dr. Silver telling him about my (HERPES Virus) he told me not to worry that I was going to be cured!! hmm i never believed it,, well after all the procedures and remedy given to me by this man few weeks later I started experiencing changes all over me as the Dr. assured me that I have cured, after some time i went to my doctor to confirmed if I have been finally healed behold it was TRUE, So friends my advice is if you have such sickness or any other at all you can email Dr. Silver (drsilverhealingtemple@gmail.com) sir I am indeed grateful for the help I will forever recommend you to my friends!!! with your lovely Email Address ( drsilverhealingtemple@gmail.com

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  7. My wife is currently having troubles with conceiving baby and we both wants to have a safe natural gender selection since it has gained a lot of attention and positive reviews also.

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  9. I feel so joyful today because of the help Doctor Ogudugu has rendered to me getting my Husband back. I've been married for 6 years and it has been so terrible because my husband was cheating on me and was seeking for a divorce. But when i came across Doctor Ogudugu Email on the internet posted by a lady, i decided to get in touch with him and i explained my situation to him and then seek his help but to my greatest surprise he told me that he will help me with my case for there is no problem without a solution. Here i am celebrating because my Husband is back home and am really enjoying my marriage and what a great celebration. I will keep on testifying on the internet because Doctor Ogudugu is truly a helper who God has sent to help us all. Why not contact Doctor Ogudugu now if you are facing any challenges in your relationship life. Email: (greatogudugu@gmail.com ). Call or WhatsApp No: +2348139793075 for further inquiry and assistance.

    ReplyDelete
  10. I Was Diagnosed With Herpes 8 Year Ago I lived In Pain, With The Knowledge That I Wasn't Going To Ever Be Well Again I Contacted So Many Herbal Doctors And Also Visited Hospitals All In Vain My Condition Never Got Better I Was Determined To Get Cured, So One Day As I Was Browsing True The Internet I Saw A Past About This Particular Woman (Wilshere Stancy) Posted On How Dr IBHAZE Saved Her From The Virus With Herbal Medicine I Decided To Contact Dr IBHAZE On His Email Address: dribhazeherbalhealingcentre@gmail.Com and also his whatsapp +2348136354191 We Spoke On The Issue I Told Him All That I Went Through And He Told Me Not To Worry That Everything Will Be Fine Again So He Prepared The Medicine And Sent It To Me And Told Me On How To Use It,After 2 Weeks Of Usage I Went To See Doctor For Test ,Then The Result Was Negative,Am The Happiest Woman On Earth Today..Thanks To Dr IBHAZE God Bless You, You Can Also Reach Him With This Details;
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    {3}Epilepsy
    {4} Blood Cancer
    {5} HPV
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    {8} Vitiligo

    ReplyDelete
  11. I never thought I'd be writing this message but after 4.5 years of and nearly lost my marriage due to not be able to have a child, severe endometriosis and scanning, I was told that IVF was the only option. This was something we could not afford and had almost given up hope of becoming parents. A friend of mine recommended Priest Babaka to me and persuaded me to contact him, he did a spiritual breakthrough for me to make me get pregnant, within 3 weeks I was pregnant (naturally!!!) and gave birth to our son in April. I am writing this message for those women who are at the stage I was at.depressed with no light at the end of the tunnel. give Priest Babaka a try to help you solve your problem, and hopefully you'll have the same success that I have had. Here is his email address babaka.wolf@gmail.com or Facebook at priestly.babaka wish you all happiness in your marriage

    ReplyDelete
  12. My Name is Linda Mark from USA/TEXAS Dr.SUKU Herbal Medicine is a good remedy for Herpes Virus , I was a carrier of Herpes and I saw a testimony on how Dr.SUKU cure Herpes Virus, I decided to contact him, I contacted him and he guided me. I asked him for solutions and he started the remedies for my health. After he finish he sent me the herbs which i took for 2 week before going for a check up and getting there i could not believe that i was confirm Herpes Negative after the test,Today i am so happy because i'm free from herpes disease with the help of Dr.SUKU Thank God now everything is fine, I'm cured by Dr.SUKU herbal medicine, I'm very thankful to God for making it possible you can reach him on his email i strongly recommend him to any one out here looking for a cure drsukuherbalhome@gmail.com or Text/Call cell number +1(325) 701-3934

    ReplyDelete
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  14. Hello,

    I'm Dr Ogudugu a real and genuine spell caster with years of experience in spell casting and an expert in all spells, i specialize exclusively in LOVE SPELL/GET YOUR EX LOVER BACK, FRUIT OF THE WOMB SPELL, HIV CURE SPELL, BECOMING A MERMAID SPELL, BECOMING A VAMPIRE SPELL, SAVE CHILD BIRTH SPELL. If you have any problem and you need a real and genuine spell caster to solve your problems, contact me now through my personal Email Address...Note-you can also Call and WhatsApp.

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  15. This comment has been removed by the author.

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  16. Age is a very big factor when it comes to conceiving. If you are of the age 35 or above, the chances of miscarriage increase to a large extent and it becomes difficult conceiving too. In such cases the doctors advise to go for the IVF treatment which can easily help you to conceive and enjoy parenthood. Getting pregnant by natural ways cannot guarantee whether the results will be positive or but in case of the IVF treatment, things are quite different. It can be used to curb the infertility issues as well bring down other health problems. That is why IVF is considered to be the best infertility treatment.

    Dr Shivani Sachdev Gour is a famous name for infertility treatment.

    ReplyDelete
  17. Very good information i found here, this is really healpful blog. Contact us at Matrika Medicare, we will help you to find best ivf clinic in india near you.

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  18. My name is Peter James From USA, Dr tebe is the only Dr who could ever get my HIV-AIDS cured with his healing spell, i have tried almost everything but i couldn't find any solution on my disease, despite all these happening to me, i always spend a lot to buy HIV drugs from hospital and taking some several medications but no relieve, until one day i was just browsing on the internet when i come across a great post of !Nicole! who truly said that she was been diagnose with HIV and was healed that very week through the help of these great powerful healing spell doctor, sometime i really wonder why people called him Dr tebe, i never knew it was all because of the great and perfect work that he has been doing that is causing all this. so i quickly contacted him, and he ask me some few questions and he said a thing i will never forget that any one who contacted him is always getting his or her healing in just 6 hours after doing all he ask you,so i was amazed all the time i heard that from him, so i did all things only to see that at the very day which he said i will be healed, all the strength that has left me before rush back and i becomes very strong and healthy, this disease almost kills my life all because of me, so i will to hospital to give the final test to the disease and the doctor said i am HIV negative,i am very amazed and happy about the healing DrTebe gave to me from the help of his ancient herbs But if you feel like contacting Dr tebe at once you can email him now for your own healing too at:(drtebe2@gmail.com). or email him on his other email for fast help (dr_tebe2@yahoo.com) add him on whatsapp +2348140544262 Thanks

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  19. My name is Peter James From USA, Dr tebe is the only Dr who could ever get my HIV-AIDS cured with his healing spell, i have tried almost everything but i couldn't find any solution on my disease, despite all these happening to me, i always spend a lot to buy HIV drugs from hospital and taking some several medications but no relieve, until one day i was just browsing on the internet when i come across a great post of !Nicole! who truly said that she was been diagnose with HIV and was healed that very week through the help of these great powerful healing spell doctor, sometime i really wonder why people called him Dr tebe, i never knew it was all because of the great and perfect work that he has been doing that is causing all this. so i quickly contacted him, and he ask me some few questions and he said a thing i will never forget that any one who contacted him is always getting his or her healing in just 6 hours after doing all he ask you,so i was amazed all the time i heard that from him, so i did all things only to see that at the very day which he said i will be healed, all the strength that has left me before rush back and i becomes very strong and healthy, this disease almost kills my life all because of me, so i will to hospital to give the final test to the disease and the doctor said i am HIV negative,i am very amazed and happy about the healing DrTebe gave to me from the help of his ancient herbs But if you feel like contacting Dr tebe at once you can email him now for your own healing too at:(drtebe2@gmail.com). or email him on his other email for fast help (dr_tebe2@yahoo.com) add him on whatsapp +2348140544262 Thanks

    ReplyDelete
  20. MY HERPES SIMPLEX CURE BY HERBAL MEDICINE..
    It's Good for herpes patient to please read my testimony,my name is Smith burkhard i am from California USA, I caught genital herpes from my ex girlfriend who never had any symptoms. I have had it for 1 year now, and it has affected my life. I have told my boyfriends who I trusted about it and I have never had a bad reaction, it has affected my new relationships with Damon People think herpes is really a minor skin irritation,herpes has a long term effects on health.The stigma attached to this virus by ignorant people is ridiculous. Most people have herpes in one form or another. I would like to advise people on how i got rid of my herpes.i was reading a comment on the internet,and i saw a testimony posted by a woman from island that she got rid of her herpes with the help of dr. boadi .so i was so happy when i saw that post,that his herbal medication is free.i quickly collected the herbal doctor email: drgodstimeboadi@gmail.com
    call or whatsapp him on his mobile number +2348144964531
    visit website http://drgostimeboadiherbalcentre.blogspot.com.ng/
    He also have the herb to cure
    (1) CANCER,
    (2) DIABETES,
    (3) HIV&AIDS,
    (4) URINARY TRACT INFECTION,
    (5) CANCER,
    (6) HERPES,
    (7) BARENESS/INFERTILITY
    (8) DIARRHEA
    (9) ASTHMA...

    ReplyDelete
  21. Hello Everyone..

    I Mr.Mark Greg is basically from San Diego where i learn more ideas about computing and networking, i graduated from the university of San Diego where i decided to input my knowledge on some great business which i later bring out the value of creating cards so i can help a lot of families, and the orphanage. seriously in San Diego i have been able to help more than thousand of people. you will enjoy a lot of this and you will gain power of been able to purchase your dream houses/cars. my office address < 6493 Caminito Blythefield,San Diego, CA.

    Contact email address and Phone Number ( markgergatmcardwork@gmail.com ) And ( +254743442702 )

    I hope you understand i am putting all my efforts to ensure you are helped speedily.

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  22. What a miracle i never believe there is cure because my doctor tested me Herpes positive and she told me there is no cure, i’m very happy today that i’m having a free life without this sickness, i can remember some months ago when i was crying all through the night and day that i can’t get cured from this sickness, i found this herbal man email on internet when i was doing research on cure for Herpes i contacted him to found out if i can get help from this sickness, i was so surprise when he told me that he have the herbs cure to it and he sent me the herbal in less down 2-3 days i was so happy when i get someone giving me hope that he can cured me i took the herbal for just 2 weeks, when i went for test after taking the herbal i found out that i am cured i was so happy and surprise, i want to use this opportunity to inform you that there is cured to Herpes you can also contact him for his help as soon as possible so that you can get rid of this sickness once and for all you can reach him through this email: chiefdrlucky@gmail.com or whatsApp him on +2348132777335 You can also contact him on any sickness in this he all have the herbal cure to it

    ReplyDelete
  23. HOW I WAS CURE FROM HERPES WITHIN 7DAYS WITH THE HELP OF DR EHINOMEN HERBAL MEDICINE CONTACT DR EHINOMEN VIA
    drehinomenherbalhome@gmail.com

    I am so Happy to be writing this article in here, i am here to explore blogs forum about the wonderful and most safe cure for HERPES SIMPLEX VIRUS . I was positive to the deadly Virus called HERPES and i lost hope completely because i was rejected even by my closet friends. i searched online to know and inquire about cure for HERPES and i saw testimoney about Dr EHINOMEN online on how he cured so many persons from Herpes Disease so i decided to contact the great herbalist because i know that nature has the power to heal everything. i contacted him to know how he can help me and he told me never to worry that he will help me with the natural herbs from God! after 2 days of contacting him, he told me that the cure has been ready and he sent it to me via FEDEX or DHL and it got to me after 4 days! i used the medicine as he instructed me (MORNING and EVENING) and i was cured! its really like a dream but i'm so happy! that's the reason i decided to also add more comment of Him so that more people can be saved just like me! and if you need his help,contact his Email: (drehinomenherbalhome@gmail.com) You can contact him today VIA drehinomenherbalhome@gmail.com
    He also have the herb to cure difference cure for any sickness
    (1) HERPES,
    (2) DIABETES,
    (3) HIV&AIDS,
    (4) URINARY TRACT INFECTION,
    (5) HEPATITIS B,
    (6) IMPOTENCE,
    (7) BARENESS/INFERTILITY
    (8) DIARRHEA
    (9) ASTHMA...

    kindly email DR EHINOMEN for your own cure if you have any disease listed above via drehinomenherbalhome@gmail.com

    ReplyDelete
  24. Great article. Keep Posting.
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  26. Do you need a financial help? Are you in any financial crisis or do you need funds to start up your own business? Do you need funds to settle your debt or pay off your bills or start a good business? Do you have a low credit score and you are finding it hard to obtain capital services from local banks and other financial institutes? Here is your chance to obtain a financial services from our company. We offer the following finance to individuals-
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  27. HOW I GOT CURED OF HERPES DISEASE
    I\'m here to testify about what DR. OLU did for me. I have been suffering from (HERPES) disease for the past 5 years and had constant pain, especially in my knees. During the first year,I had faith in God that i would be healed someday.This disease started circulating all over my body and i have been taking treatment from my doctor, few weeks ago i came across a testimony of one lady on the internet testifying about a Man called DR.OLU on how he cured her from herpes disease. And she also gave the email address of this man and advise anybody to contact him for help for any kind of sickness that he would be of help, so I emailed him telling him about my (HERPES) he told me not to worry that i was going to be cured!! Well i never believed it,, well after all the procedures and remedy given to me by this man few weeks later i started experiencing changes all over me as DR. OLU assured me that i will be cured,after some time i went to my doctor to confirmed if i have be finally healed behold it was TRUE, the test came out negative. So friends my advise is if you have such sickness or any other at all you can contact DR. OLU for help via email} drolusolutionhomehome@gmail.com/ Or CALL/WHATAPPS him through his mobile} +2347014784614

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  29. Thanks to Dr Williams I am so happy today, my wife have been suffering from hemophilia for the past 8 years now, and i have spent a lot on western drugs which has all proved abortive, i have tried all means in life to get my wife out of this , but there was no answer until i decided to try herbal solution and i found Dr Williams online and i contacted him and after she took his medication as instructed, my wife is now completely cure from hemophilia within those week of usage, i am so much happy, thanks to Dr Williams for helping me get my wife life back again without any form of crisis, i promise to tell your name and good deeds to the whole world,if you have someone with hemophilia you can email him on drwilliams098675@gmail.com for more information .

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  30. I got such a good information on this topic its very interesting one. You made a good site and I have found a similar website please check this one male infertility clinic visit the site to know more about Fertility

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