ANKLE ARTHRITIS : If I could tackle it,you too can !!-Chandan Kumar

Oh! I can’t walk for  5 minutes!! Severe pain I have been facing while walking. What should I do ??

Restricted life ,painful ankle ,disappointed life.

One of the most commonly affected joints of hemophilics - the ankle joint. Pwh easily get arthritis in ankle.

Ankle  joint is very prone to get bleeds ,and recurrent bleeds lead to synovitis and if it is not treated early,then synovitis will lead to arthritis. But don’t worry , or feel devastated if you have ankle arthritis ,you can easily over come the problem. I have ankle arthritis too ,and if  I could overcome my problem ,then anyone can too!!We just need to follow a disciplined routine and keep faith in God and ourselves.

My dearest PwHs and CwHs,

 I have ankle arthritis too ,in 2013 I too  faced the same nuisance like severe pain while walking ,frequent bleed ,but I alleviated my problems. Now I am writing here on how to overcome this menace.In same year 2013, I was diagnosed with inhibitors too ,so I couldn’t take factor 8 while bleeding and I didn’t  have access to  FEIBA .I have  overcome the problem without Factor.

So anyone out there who have ankle arthritis ,don’t worry , there is still hope to get rid of  the painful life and start your journey again.

I had been following mainly 4 steps on a regular basis.

1.       I used ANKLE FOOT ORTHOTIC(AFO) while walking. This was  suggested from CMC, Vellore.I wear this inside my  basket ball shoes. Why basketballshoes? Basically , basket ball shoe has high cushioning and great grip to hold our ankle and protect it from shock ,and AFO restrict ankle movement while walking.So  ,when you walk , ankle joint movement is restricted and we don’t face pain.In effect,it  is very similar to ankle fusion. But the ones  having 3^rd stage of arthritis may go for customized  shoes with AFO to restrict complete movement of ankle.

2.Physiotherapy :Usually PwHs get bleed while doing exercises ,and they stop the physiotherapy. But we shouldn’t stop this ,we have to understand our muscular strength and do exercises accordingly .I had started my ankle exercise from “no weight” and “5 count” only. When I didn’t get bleed for 7 days ,I had increased my count from 5 to 10 and put 250gm weight on ankle and so on. I always   ice the joint for 15 minutes after exercise. I had been using crepe bandage for the initial 3 months even at rest . Before going to  bed too, I iced my ankle for half an hour and bandage it (elastic crepe bandage) .

These where the excercies that i did,but,as we all know,the excercises must be chosen as per the condition of our joints and muscles,and need to be customised according to it.Hence,seek the advise of a physiotherapist who is well experienced in haemophilia care

3.Gulcosamine : I had  used glucosamine (1500 mg) for almost 6months.It is a food supplement Basically it helped me reduce the swelling and increase  mobility .  I continue gulcosamine ,but at a low dose.

NOTE: This is my personal experience ,please consult your doctor and physiotherapist before starting  all the above mentioned methods.

Dear friends,physiotherapy and adopting a disciplined  life style   is the only allay to alleviate our problems.

Hope this information will help many hemophilics who have been facing ankle arthritis.

For more clarification or any information you can write to me via e-mail to  chandanshallu@gmail.com.
Thanks and regards,
Chandan Kumar
Team RedLegacy

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 !

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 !