Although haemophilia is a well-known bleeding disorder in men, not many doctors know that women carriers of haemophilia too have higher risk of bleeding and that the symptoms may be frequent and severe. Also, females with most common inherited bleeding disorders like von Willebrand disease (VWD) too fail to get timely and proper treatment as they remain misdiagnosed.
“In fact, many times even the family of the affected woman or she herself is not aware of her medical condition. As a result, they are under-diagnosed or misdiagnosed. However, if left untreated, bleeding disorders risk serious complications during mensuartion, pregnancy, labour and delivery,” cautions Dr Nita Radhakrishnan, Assistant Professor at Department of Pediatric Hematology Oncology, Super Specialty Pediatric Hospital & Post Graduate Teaching Institute and Post Graduate Teaching Institute, Noida.
She explains: “A significant number of females too have clotting factor levels that would classify them as having mild, moderate and even severe haemophilia.”
With such risks, women carriers of haemophilia or having family history should ensure a proper diagnosis and treatment from a specialist, called a hematologist. Also, women carriers should share their health status to their doctors to ensure correct treatment.
Dr Renu Saxena, Head of the Hematologist Department in AIIMS stressed on carrier detection and prenatal diagnosis of the pregnant women particularly those with bleeding disorders and carriers of haemophilia. “If the family has a history of blood disorder then pregnant woman should come for pre-natal test within 16 weeks of pregnancy, so that they have option to abort the fetus.” Preimplantation genetic diagnosis and non?invasive prenatal testing are among the latest methods of prenatal diagnosis available to couples.
The first step in doing prenatal diagnosis of haemophilia is to determine the sex of the fetus, since only male fetuses are at risk of having hemophilia. Thus, subsequent testing may not need to be done if the fetus is found to be a female.
If the woman is found to be a carrier, then with each male pregnancy there is a 50 per cent chance that the infant will have haemophilia. The type and severity will be the same as that of other affected members of the family, Dr Saxena explained.
To reach out to the sector, the Union Health Ministry has recently come out with a draft policy for “Prevention and Control of Hemoglobinopathies —Thalassemia, Sickle Cell Disease and variant Hemoglobins In India,” focusing on screening of pregnant women and neo-natals to detect such disorders.
Vinita Srivastava, National Consultant, Blood Cell (NHM), Union Health Ministry said that. “We want to establish hemoglobinopathy/ haemophilia units at district level and above, operating in a hierarchical manner to carry out the treatment and to monitor for complications by necessary laboratory and imaging studies among others as envisaged in our policy. “
Dr Chandra Mansukhani, senior gynecologist at Sir Gangaram Hospital added that the risk of transmitting haemophilia and bleeding complications during pregnancy and at time of the delivery represent major implications for haemophilia carriers.
To address the psychological issues of women with bleeding disorders, haemophilia carriers and men with haemophilia, Empowering Minds Society for Research and Development, an NGO has been frequently holding workshops and interaction with the community. “Lots of ignorance, taboos and stigma surrounds the bleeding disorders particularly when it comes to women. Diagnosis can have significant impact on women’s physical and emotional quality of life. We try to equip them better to deal with it, ,” said Richa Mohan, head of the Empowering Minds.
“Self-medication, tattoos, body piercing are strictly no no for the community. Delayed diagnosis can lead to psychological problems. Loss of virginity should be considered very carefully,” she added.