Carriers of Hemophilia: Carry the genes ,but not the stigma !

Shruti : Hey Riya,you have a secret admirer!! That Rahul, I have seen him look at you all the time with that silly "I am in love" smiling  face.

Riya : I don't like all this nonsense Shruti,just shut up  and go

Shruti :Arrey,what happened? Chill!! I know you like him too.Don't lie to me..

Riya : You know everything,why are you teasing me and messing with me??

Shruti : Because you are a dumbo. Riya, I talked to my cousin who is a doctor,she told me that you don't have to worry at all.It is not as complicated as you think it is.You just overthink as always.
See, we are not even sure that you are a carrier, and even if you are, there are lots of options out there. There is solution for all your problems.
I know you are scared after hearing the bad experiences of a few.There are such jerks in this world,but majority are not like that.
Do not lock yourself in the tiny cage you have made for yourself.Just live the life !

A carrier is a person who carries the altered gene for Hemophilia,but does not have the condition.They can be Obligate carriers(who necessarily have the Hemophilia gene which they inherited from their father) or Possible carriers (who have the possibility of being a carrier ).

Obligate carriers include :

• All daughters of a father with Hemophilia
• Mothers of one son with Hemophilia and who have atleast one other family member with Hemophilia (brother, maternal grandfather, uncle,nephew or cousin)
• Mothers of one son with Hemophilia and who have a family member who is a known carrier of the Hemophilia gene (mother,sister,maternal grandmother,aunt,niece or cousin)
• Mothers of two or more sons with Hemophilia

Possible carriers include : 

• All daughters of a carrier
• Mothers of one son with Hemophiia who do not have  any other family members who have Hemophilia (or are carriers)
• Sisters,mothers, maternal grandmother,aunts,nieces and female cousins of carriers

Should I test for carrier status ,and when ??

It is entirely the decision of you and your family to undergo the genetic testing and know if you are a carrier or not.

But,carriers may have a low level of factors and can be at risk of bleeding following trauma,tooth extraction,surgeries etc.Some have excess menstrual bleeding too.So,it is always better to have a Factor assay done in all possible carriers so that all the necessary precautions can be taken if the levels are found low.But remember,Factor levels do not confirm or negate your carrier status.

Also,there is no specific age to get the test done,many do it early so that the child gets enough time to get in terms with it gradually , and some wait until they are adults.However,it is always better to get the test done before a suspected carrier gets pregnant.

Tests for Identifying carriers 

• Direct Mutation Testing 

           Many mutations cause Hemophilia.In this test ,we check for the specific mutation in your family.

          For this test, the mutation of the male family member with Hemophilia have to be identified first using his blood sample. In about 98% cases, a mutation can be identified.Then, the  possible carrier female's blood sample  is collected and her DNA checked for the specific mutation.
The results will be available only after  a few weeks.
Hence, the best idea would be to get the test done  well in advance ,before planning your pregnancy.

This is the most accurate test for identifying carriers.It is more expensive.

• Linkage (Indirect) Testing

           In this method, the gene carrier status of the female is determined by tracking the gene in the family.Blood samples are collected from the possible carriers and from the male with Hemophilia and other family members.A comparison of the patterns of the linked DNA is made. The technicians check for the same pattern in DNA of the person with Hemophilia and in the DNA of family members.

This test is not as accurate as genetic testing.It does not provide information for all families.It can be done when a mutation cannot be identified.

• Factor Assay

Carriers may have low levels of clotting factors.But,the levels do not confirm carrier status. The factor levels increase during pregnancy as a natural protective measure reaching the highest during the third trimester. Hence, checking your factor levels during pregnancy may not reveal the actual lower levels.

• Pedigree or Family Tree

This is not a test to identify carriers.But,it is always advisable to draw a Family Tree or Pedigree.It generally includes three generations: Children,parents,aunts,uncles,cousins and grandparents.

It will help identify the possible carriers of Hemophilia

Why know your carrier status ?

It can provide valuable information to the women and their families regarding her Factor levels and also help manage her own health, help make wise reproductive decisions .It also helps to identify other possible carriers.

A symptomatic carrier should take precautions  while using over the counter drugs like Aspirin, and Non steroidal anti-inflammatory drugs that may interfere with normal clotting of blood.Also, she should be cautious about participating in contact sports and should always carry an appropriate medical identification with her.

If you are concerned about transmitting the Hemophilia gene to the coming generations, Pre natal diagnosis can help you.

Pre-natal diagnosis is  identifying Hemophilia in the foetus.It can be done by :

• Chorionic villous sampling (CVS)

         It is an invasive procedure done between 11 weeks and 14 weeks of pregnancy.In this,a sample of the chorionic villi  cells from the placenta is obtained by inserting a fine needle through the abdomen  or by inserting a thin catheter through the mother's vagina under local anaesthesia and ultrasonic guidance. The cells are then tested to identify the Hemophilia gene.

• Amniocentesis 

This is another invasive procedure  which can be done between 15 weeks and 20 weeks of pregnancy.A fine needle is inserted into the uterus through the abdomen under ultrasonic guidance and a small amount of amniotic  fluid is collected. Amniotic fluid contains foetal cells.These cells are tested to identify Hemophilia.

Also, there are some conception options to eliminate the risk of having an affected child

• In vitro fertilization (IVF) with pre-implantation diagnosis(PGD)

       This is quite an expensive procedure and not available at all centers.As in every IVF,it has only a 30% success rate per cycle.In this, the woman's eggs are retrieved and fertilized with the sperms of her partner in a laboratory.The embryos are tested for the Hemophilia gene at a very early stage and only those without the altered gene are implanted into the mother's womb.

However, a chorionic villous sampling/amniocentesis may still be needed for confirmation.

• IVF with egg donation

          In this,donor eggs from a fertile woman who is not a carrier is fertilized with the sperms of the partner.The embryos are then implanted into the  mother's womb 

• Sperm sorting

        This is still just a research tool and not readily available.In this,only sperms carrying an X chromosome is used thus ensuring birth of a female child. This cannot prevent birth of carrier females.

These are a few methods to prevent birth of a child with Hemophilia .You need not panic even if you have one.With the advent of better clotting factor concentrates and other treatment facilities, and governmental policies beneficial to the hemophiliacs, management of Hemophilia is getting better day by day. These information are shared here to keep yourself healthy and help you lead a good,happy life .

---- Hemant Naidu Pulijala, Dr.Anupama Pattiyeri

     &Team RedLegacy !

Karunya Benevolent Fund( KBF):A scheme which includes free factor therapy for registered PwHs of Kerala,India . Rome was not built in a day,so was KBF for Hemophilia

Karunya Benevolent Fund: The compassionate touch which changed the life of Persons with Hemophilia of Kerala

"Karunyam" means compassion or mercy. The Government of Kerala has aptly named the Benevolent Scheme  "Karunya".

Karunya Benevolent Fund,  the Health Service Scheme that finances treatment expenses of poor sections in the society. It is run by the revenue earned from Karunya Lottery by the Government of Kerala.
Persons from poor economic background suffering from Cancer, Hemophilia, Kidney disorders, Heart diseases and those who are on Palliative Care get financial assistance through the Scheme.

Finance Minister, Shri K M Mani announced the Karunya Benevolent Fund in his 2011-2012 Budget. Karunya lotteries were started in October 2011, and on 26 February 2012, the then Minister for Defence, Government of India, Shri A K Antony inaugurated the State level Karunya Benevolent Fund. A State Committee presided by the Finance Minister and District Committees presided by District Collectors were formed.
Karunya even attracted those who were not in the habit of trying their luck.

Initially, the help was in the form of financial assistance of a maximum amount of Rupees Two lakhs per patient. Patients from BPL families and also from APL families whose annual income is less than Rs.2.5 lakhs per annum would be eligible for the Scheme. Also, financial assistance was limited to only one person of a beneficiary family.

Because of the continuous lobbying by the Hemophilia Societies of Kerala and well wishers, Hemophilia was included in the Karunya Benevolent Fund. Initially, only PwHs in the BPL category were included.
When the high cost of the treatment was brought into the notice of the Government,those belonging to the APL category were also included.

The support in the free factors had a ceiling of Rupees Two lakhs for their entire lifetime.

In the Government Order 403/2013 dated 18-05-2013, it was decided that if there is more than 1 PwH in a family, the benefits be given so that each PwH received treatment upto Rupees Two lakhs, instead of the earlier guidelines saying only one patient from a beneficiary family could avail the benefits.
Finally, in the Government Order 1445/2015 dated 18-5-2015. Government of Kerala, Department of Health and Family Welfare, and Kerala Medical Services Corporation ordered to provide free factor therapy to all Persons with Hemophilia registered in the scheme for their entire lifetime, irrespective of the APL /BPL category.
Factors VIII, IX, VII a and FEIBA are available through the Karunya Benevolent Fund (KBF).
There are around 1200 Persons with Hemophilia in Kerala.

Around 996 have registered in KBF and 850 have registered in the Samashwasam III project by the Social Security Mission of Government of Kerala which provides a monthly pension of One thousand Rupees.
A unique KBF ID is given to all the registered PwHs. Free factors can be obtained from Karunya Pharmacy on submitting prescription from treating doctor working in the Government sector. The amount corresponding to the cost of the factors will be deducted from the PwH's KBF account.
The pharmacy provides a bill to keep records of consumption.
Upon infusion of the Factor concentrates, the cartons with the empty vials should be submitted to the Karunya pharmacy along with the Utilisation Certificate given by the treating doctor. The certificate also has a patient / guardian declaration of utilisation of factors.

Only upon submission of these will the beneficiary get Factor concentrates again.
The Karunya Stores have a separate counter too for KBF beneficiaries so that they can obtain the factors easily.

However, the fact that it runs solely by the revenue from Karunya lotteries and that there is no other budget allocation for Hemophilia is a matter of concern.
Also, free factor therapy is available only to the registered PwHs. The Government Hospitals do not stock Factor concentrates. Hence, unregistered PwHs will have to buy Factor Concentrates out of their own pockets.
Also, there may not be sufficient stock at times.

---- Hemant Naidu Pulijala, Dr.Anupama Pattiyeri

     &Team RedLegacy !

APRIL 17: World Hemophilia Day, Birth Anniversary of Frank Schnabel

World Hemophilia Day

 It is an International observance held annually on April 17  by the World Federation of Hemophilia. It is an awareness day for Hemophilia and other bleeding disorders, which also serves to raise funds and attract volunteers for the WFH. It was started in 1989. April 17 was chosen in honor of Frank Schnabel, the founder of The World Federation of Hemophilia.

Themes of World Hemophilia Day

2016: Treatment for All
           The vision of All
2015: Building a family of support
2014: Speak Out. Create Change
2013: 50 years of advancing treatment for all
2012: Close the Gap
2011: Be inspired, Get involved in Treatment for All
2010: The many Faces of Bleeding Disorders - United to Achieve Treatment for All
2009: Together, We Care
2008:Count me In
2007: Improve your Life!

Frank Schnabel

A Montreal businessman born with severe Hemophilia A.He established The World Federation of Hemophilia (WFH) at Montreal in 1963. His vision was to improve treatment and care for " the hundreds of thousands of hemophiliacs" worldwide through a new International organization.
From a base of six national Hemophilia Societies, the Federation grew rapidly. It held World Congress every two years and created a global network of healthcare providers,national Hemophilia associations,people with Hemophilia and their families. At the 1964 WFH Congress in Amsterdam, the structure of the new organization was defined with a constitution and an executive board.
It reached a turning point when the World Health Organization acknowledged the Federation's growing international reputation and established official relation. The two bodies began working on joint projects.
 In 1982, AIDS hit the Hemophilia community. Connection of HIV infection in hemophilia patients and plasma derived treatment concentrates was presented in the Stockholm World Congress by Dr.Bruce Eratt. AIDS contracted from HIV-contaminated  treatment products swept through the Hemophilia community.
Frank Schnabel was among the victims. He passed away in 1987. Until the end, he reaffirmed his vision with the words," We are going to emerge victorious "

On the 5Oth anniversary of WFH, a video was released showing moments from the life of Frank Schnabel.
 The Journey Begins  :   https://www.youtube.com/watch?v=qqYbNeH4bOk&feature=youtu.be

International Frank Schnabel Volunteer Award

Established in 2004 in honor of Frank Schnabel,it is given to an individual with hemophilia, an inherited bleeding disorder,or to a family member, who has contributed significantly in furthering the mission and goals of the WFH. It is given every two years of Congress.

Past recipients

2004 - Ashok Verma
    Hemophilia Federation India
2006 - Yuri Zhulyov
Russian Hemophilia Society
2008 - Jean-Michel Bouchez
Association Française des Hémophiles
2010 - Antonio Luque de Garrido
Venezuelan Association of Hemophilia (AVH)
2012 - Martha Patricia Monteros Rincön
Federacion de Hemofilia de LA Republica Mexicana
2014 - David Page
 Canadian Hemophilia Society
 Brian O' Mahony
Irish Hemophilia Society

Light it up Red!

Each year, new landmarks and monuments are added to the list of WFH partners who support World Hemophilia Day by changing their lighting red on April 17

If there is a landmark near you, contact them to see if it can be lit red on April 17.
If not, just turn your lights red and participate at home.
Light it up red.

----Hemant  Naidu Pulijala , Dr.Anupama Pattiyeri

     &Team RedLegacy !

You matter! Your voice matters!!

Tears may go unseen,
Your cry may not be heard...
Oh dear mothers, sisters
And darling wives..
Raise your voice,
And you sure will be heard!!

Let not fears crumble you down,
Let not timidity keep you away!
Shake them off and wake up,
Rise!! Today, Now!!

C'mon together we shall dream,
Together we shall work,
Together we shall build...
New rays of hope,
New wings of hope...

And then, sure shall come the days,
When our brothers, sons..
Sisters and daughters
And our dear love too...
Shall fly high in the sky!!

By-Dr.Anupama Pattiyeri 

Inhibitors : leave the inhibition and know about it, you could be the next one

 Rohan/21/Male,  a known case of Hemophilia A, presented with severe bleed of the left knee.
Infused 1000IU of Factor VIII  and was discharged
He reported again the next day complaining of severe pain and swelling at the same site.
Infused factors according to his weight as per the dose chart. Gave maintenance doses too at the required intervals.
But the results were not as good as expected.
What could be the reason?
Is he deficient in factor VIII or some other factor?
But as per history, he used to respond well to Factor VIII.
 Has he developed inhibitors (antibodies)  to the Factor?
What should be done until we get an inhibitors screening done?
Should we continue infusing Factors because we are not sure of the inhibitor status or can we infuse inhibitor by-passing agent FEIBA or Activated Factor VII ?

Will it be a good idea to wait for results of screening tests in case of serious bleeds?
Does these agents have any detrimental effects if infused in persons without inhibitors?
Can we use them when we are in doubt?

If the bleeds are not getting better after infusion, it may be because you have not infused the required dose and not maintained the desired Factor level.
But if the response is not good even with infusion as per the dose chart, chances are high that you have developed antibodies / inhibitors against the factors.
You will have to use by -passing agents FEIBA or Activated Factor VII.

FEIBA ( Anti-inhibitor Coagulant Complex) can be used for control and prevention of bleeding episodes, perioperative management and routine prophylaxis in cases of Hemophilia A and Hemophilia B with inhibitors
should not exceed a dose of 100 units per kg body weight every 6 hours and daily doses of 200 units per kg body weight
Side effects :Thromboembolic events, Hypersensitivity and Allergic reactions , Blood-borne infections
Coagulation Factor VIIa Recombinant is intended for promoting hemostasis by activating the extrinsic pathway of the coagulation cascade.

It is indicated for treatment of bleeding episodes and prevention of bleeding during surgery in persons with Hemophilia A or B with inhibitors to Factors VIII or IX and in persons with Acquired Hemophilia
Treatment of bleeding episodes and prevention of bleeding during surgery in persons with Factor VII deficiency.

If you are not responding well to Factor therapy, inhibitors screening should be done immediately. However,  in extreme emergency, Factor VIIa may be used.
Inhibitors screening should be done by all persons with Hemophilia every 6 months.
In India, most of the centres which have facilities for aPTT  and Factor Assay do inhibitors screening too.
The major testing centres in  India  are:

AIIMS, New Delhi

Address: Ansari Nagar East, New Delhi, Delhi 110029
Phone:011 2658 8500

King Edward Memorial Hospital, Mumbai

Address: Acharya Donde Marg, Parel, Mumbai, Maharashtra 400012
Phone:022 2410 7000

Christian Medical College & Hospital, Vellore

Address: Bagayam, Thorapadi, Vellore, Tamil Nadu 632002
Phone: 0416 228 4255

St.John's Medical College , Bengaluru

Address: Sarjapur Road, Opp BDA Complex, Bengaluru, Karnataka 560034
Phone: 080 4946 6029

Apart from these most Hemophilia Societies and Hemophilia Treatment Centers conduct Inhibitors screening camps.

By

 Hemant Naidu Pulijala ,Dr.Anupama Pattiyeri &Team RedLegacy !

The precious 32 pearls!!

Dental care -A very important thing in the lives of persons with hemophilia and other bleeding disorders.
Dental problems are a menace to hemophilics.
  How do I know that?  Well, I am a dental practitioner and my little brother is a person with hemophilia(Hemophilia A,severe). And yes,he did face difficulties due to dental problems.
  So, here are a few tips on how to take good care of your precious 32 pearls   and decrease the chances of dental problems. A few measures to be taken right from infancy.

• Proper nursing of infants: Seen yellowish to brownish - black front teeth of kids?? Those are teeth decayed due to improper feeding of breast milk/ formula.Breastfeeding is essential, but should be done in the proper way. Feeding at night just to make the baby stop crying and go to sleep is not a good idea. A pool of milk remains in the mouth and causes decay of the teeth. Also, take care to wipe clean the teeth and gumpads after feeding using a soft cloth.Remember milk teeth, though are shed as you grow, are very important for proper chewing of food and thus your overall health. Take good care of the 20 little pearls

• Daily home care: Brush twice a day, but not in a hurry, take a few minutes, covering all surfaces of teeth and don't forget to reach to the last tooth.Floss to clean the interdental areas, but don't force it through tight areas, and do not injure your gums. Clean your tongue and cheeks as well. Follow by a gentle massage of the gums.
• Avoid frequent snacking: Frequent snacking increases the risk of tooth decay multifold. Frequency matters a lot more than the amount consumed. Rinse after every snacking. Avoid sticky and sugary food. Sucrose is known as "arch criminal " because it causes tooth decay.If you just love sweets, try to have it at the end of your  meals.Include more fiber into your diet.
• Regular dental check up:Visit your dentist every 6 months.Early dental decay and other problems can be detected at an early stage and corrected by non - invasive or minimally invasive treatment methods.
•  Professional methods to prevent or reduce tooth decay: Your dentist can help you prevent decay to an extent by methods like Fluoride application, Pit and fissure sealants etc which are applied at specific ages corresponding to the eruption of teeth.

    Follow these easy and simple tips, keep your 32 pearls healthy and sparkling!!
A healthy, happy smile means a more confident you!!

----  Dr Anupama Pattiyeri & Team RedLegacy !