Dr Anupama Pattiyeri, who has a strong family history of hemophilia, was diagnosed with mild Hemophilia A at age 32. Today, she is actively involved with primary counselling as well as educational and financial empowerment among young hemophilics and women of the bleeding disorder community.
Could you tell us a little bit about your condition?
I have mild deficiency of Factor VIII (blood clotting protein). While the normal level of Factor VIII in blood is 50 -150%, mine is 26%.
हिंदी में पढ़ें: महिलाओं को भी हो सकता है हीमोफीलिया
Do you have a family history of hemophilia?
Yes, hemophilia runs in my family. My maternal grandmother didn't have any brothers. She and a few of her sisters gave birth to male children with hemophilia. My uncle passed away a couple of years before my parent’s wedding. My mother has had severe menses since menarche and could not attend much of high school. She underwent total hysterectomy due to bleeds and uterine prolapse when I was a student of Dentistry. My brother is a severe hemophilic. My mother's cousin's grandson is also a severe hemophilic.
Furthermore, I am married to a severe hemophilic with inhibitors (antibodies that neutralize specific clotting proteins).
Men are more likely to manifest severe forms of hemophilia. What were your main signs and symptoms during childhood?
As my deficiency is not severe, symptoms, even if present, were not identified. My healing is slow. I experience heavy menstrual bleeds lasting for 1-2 months. As a result, I am severely anaemic too. My level of haemoglobin hovers around 5-6 grams per decilitre when the normal range in women should be 12-15 g/dL.
Another issue I face nowadays is bruising on bumping on to furniture etcetera with the tender blue patches staying for many weeks. I also experience pains in ankle and knee joints for the last few years.
Hemophilia occurs more commonly in males than in females. It often goes undetected for long in females. You were diagnosed with hemophilia at age 32. What made you go for a test?
Everyone in my family was of the opinion that I and my mother might be deficient in Factor VIII with my father suggesting infusion of Factor VIII concentrate for our symptoms. In 2014, I attended a workshop by Women's Group of Hemophilia Federation (India), in which I met female bleeders. I also learnt in a talk by Dr Nita Radhakrishnan, Paediatric haematologist, PGI Noida that 1/3rd of carriers may have deficiency of Factors. In 2016, I got married, this was also a catalyst, I can say, that made me undergo testing.
Then, in 2017, testing started in my city at Government Medical College, Kozhikode and thus, I decided to get my Factor Assay done. Earlier, we had to travel to CMC, Vellore for the same, from where my brother and husband got the confirmed diagnosis of Hemophilia A.
What made you wait for nearly 30 years for the tests?
One of the most important reasons is that no one, not even doctors, suggested it. Even today the female kins of affected males are advised Carrier Detection Tests only to determine whether their offsprings will be affected. Also, doctors do not easily give you thumbs up for Factor Assay, even today.
Why is that so?
Because medical literature still says women are ‘only carriers’. Symptoms are easily dismissed or considered to be gynaecological.
What tests were undertaken to determine you condition? Which type of hemophilia do you have?
The gold standard is Factor Assay by which you will get to know the level of coagulation Factor in your blood. As there are a lot of bleeding disorders and clotting factor deficiencies, Haematologists prescribe various qualitative and quantitative tests based on clinical manifestations and family history.
Basics tests like bleeding time, clotting time and APTT (activated partial thromboplastin time) are used as screening tests. Genetic testing for identifying the type of mutation, carrier diagnosis and prenatal diagnosis are also available.
I have mild Hemophilia A.
After diagnosis, one can go through a range of negative emotions? Did you face any psychological difficulties after testing positive for hemophilia?
I agree that people usually go through negative emotions with diagnosis of this kind. But, in my case, it was different. I finally got an answer for my problems. We can look for solutions only when we know what the problem is.
I had received treatment for PCOD (for many female bleeders, the bleeding symptoms are dismissed this way) with no success. One gynaecologist said that it is not PCOD, but could be related to the family history of Hemophilia.
To be honest, I was in fact, happy to get a diagnosis. I am not alone in this, I have seen similar reaction shared by women on internet social media groups for female bleeders.
What treatment and therapies have been recommended for management of your hemophilia?
Antifibrinolytics (medicines that promote blood clotting) and Factor VIII concentrate. Oral contraceptive pills are also recommended for menorrhagia. Regular haematinics (iron supplement) are also needed for anaemia due to the monthly blood loss.
Have you made any changes in your lifestyle after your diagnosis?
Yes, I have had some changes in my lifestyle. I was a vegetarian for a long time. As I was getting breathless and experience chest pains due to anaemia, I now include eggs, fish and meat in my diet. Another thing is, avoiding long journeys during the times of menstrual bleeds. I even had a change of profession from a dental practitioner to the field of medical communication.
There is a long-standing misconception that women are only ‘silent’ carriers unaffected by the disease, but the fact is that women can have hemophilia too. Have you been able to join any advocacy group to raise awareness and provide support to women with hemophilia?
Thankfully, I have had the opportunity to be a part of the Women's Group of Hemophilia Federation (India), which is aimed at strengthening women of the bleeding disorders community which includes caregivers of bleeders, bleeders and carriers.
I am also a member of the Women and Girls with Inherited Bleeding Disorders Committee of World Federation of Hemophilia. I had the honour to be involved in the planning of the first ever Women's Summit by WFH and was also a Speaker in the same.
What is your advice to someone going through a similar situation?
Do not procrastinate; it is very important to get tested. Identify the problems you have, check for bleeding symptoms (This is not limited to menorrhagia). Get a diagnosis, get treatment.
Advocate for your cause!
(Dr Pattiyeri serves as the key person of the Hemophilia Society, Calicut Chapter. She is the assistant Coordinator of Women’s Group of Hemophilia Federation India-South Zone. She has been coordinating the activities of seven Hemophilia Societies in her state Kerala. She is also part of training program focussing on advocacy, policy making, communication, legal and organisational compliance.)
