Understanding haemophilia

By Carol Aloysius

Haemophilia is a rare bleeding disorder which is still not understood completely by even many medical professionals, let alone the lay public.

Although the cure for this disease is still at an experimental stage, understanding the disease and proper patient care by the whole family will help to relieve the suffering of the patient and give them a better future. On April 17 World Haemophilia Day 2013 was observed with The CN Tower, one of the world's tallest freestanding structures, lit up in red to mark this event and raise awareness about this little known genetic bleeding disorder.

Consultant Haematologist of National Hospital of Sri Lanka, Colombo, Dr. Bhaddika Rasanjalie Jayaratne talks about the disease and briefly traces its origins in a recent interview with the Sunday Observer.

Excerpts...

Q. What is haemophilia? How is it caused?

A. Haemophilia is a group of inherited blood disorders in which the blood does not clot properly. Blood contains many proteins called clotting factors including factor VIII and factor IX, which maintain at constant levels and work to stop bleeding through complex chemical interactions. People with haemophilia have a low level or absence of one of these clotting factors in blood. Haemophilia A and B are caused by deficiency of clotting factors, factor VIII and factor IX respectively and not surprisingly their absence causes virtually identical patterns of bleeding. The existence of lifelong bleeding disorders and their familial occurrence was noted in the medical literature as early as the 16th century.

Haemophilia figured prominently in the history of European royalty in the 19th and 20th centuries. Britain's Queen Victoria, through two of her five daughters, passed the mutation to various royal houses across the continent, including the royal families of Spain, Germany and Russia.

Q. How is it transmitted?

A. The disease is transmitted from parents to children through non-dominant Haemophilia gene located on chromosome X. Females possess two X chromosomes. Males have one X and one Y chromosome.

Therefore, a vast majority of patients are males and females are asymptomatic carriers, but there are very rare cases of female haemophilia patients reported in certain tribes of south India. About one-third of patients may not have a prior family history.

Blood contains many proteins called clotting factors including factor VIII & factor IX, which maintain at constant levels and work to stop bleeding through complex chemical interactions.

The disease is transmitted from parents to children through non-dominant Haemophilia gene located on chromosome X. Females possess two X chromosomes.

Males have one X and one Y chromosome. Therefore, a vast majority of patients are males and females are asymptomatic carriers, but there are very rare cases of female haemophilia patients reported in certain tribes of south India. About one-third of patients may not have a prior family history.

Q. Who is at risk of inheriting this condition?

A. People with haemophilia have a low level or absence of one of these clotting factors in blood. Haemophilia A and B are caused by deficiency of clotting factors, factor VIII and factor IX and not surprisingly their absence causes virtually identical patterns of bleeding.

Haemophilia A affects approximately 1 in 10 000 live male births and is equally common in all ethnic groups whereas Haemophilia B incidence recorded approximately 1 in 50,000 male births around the world.

According to world haemophilia federation statistics the total number of Haemophilia patients in the world is recorded as 400,000 in 2012. There are 316 haemophilia patients registered at National Hospital Colombo to date, out of which 276 are haemophilia A.

Q. What are the symptoms?

A. The characteristic symptoms vary with severity. In general symptoms are internal or external episodes of bleeding. Patients with severe haemophilia suffer spontaneous, frequent and severe bleeds and patients with mild haemohilia suffer minor symptoms. In fact mothers notice frequent, large bruises and swelling of knee joints when their sons start crawling or bleeding from a dental procedure, following trauma or surgery as a first sign.

The most characteristic type of internal bleed is joint bleeding. Bleeding into subcutaneous tissue and muscle is also seen. Less commonly but life threatening gastrointestinal, central nervous system and bleeding into genitourinary system are also experienced. Long term complications include, joint, muscle deformities, 'pseudotumour formation' and fractures.

Out of all it has to be considered that the quality of lives of these patients are affected in many ways with regard to their socio-economic, psychological conditions and family lives. Frequent hospital admissions, absence at school and work, being dependent on their family members and society are also consequences of the disease process.

Q. What are the services available to patients in Sri Lanka?

A. In Sri Lanka, state sector health services play a major role in caring haemophilia patients at recognised centers involving full array of laboratory diagnosis, factor replacement therapy for acute symptoms and prevention of further bleeding under supervision of comprehensive care team including a haematologist, physician, dentist, physiotherapist, counsellor and social worker.

Factor replacement therapy is exclusively available in the state sector hospitals at specialised centres which are substantially a costly treatment. Approximately a minimum of Rs 30,000 Sri Lankan rupees is spent for management of an uncomplicated joint bleed in hospital, per day.

This is where a calculated level of factor VIII or factor IX replacement on regular basis for the purpose of prevention of recurrent bleeding comes in not only to minimise the cost bore by the government and also to improve the quality of life of patients to live a near normal life.

Unfortunately the currently available plasma derived factor treatment rarely carries a risk of plasma transmitted infections such as Hepatitis B and development of resistance to treatment.

Q. Is there a cure for this disease?

A. There is no cure for this genetic disease except gene therapy which is still at an experimental level.

Caring haemophilia patients is an equally shared responsibility of their immediate family members, relatives and the society at school, workplace and public in general.

These patients have to be treated equally with other unaffected siblings within their families while more attention, care and love are expected. Their parents and immediate family members should have an understanding regarding nature of the illness, identification of early symptoms, to obtain appropriate medical treatment as early as possible when necessary.

Q. What advice do you have for parents and teachers of children with haemopholia?

A. Haemophilia patients at school may need help from the teachers and their friends whenever it is necessary and also need more attention at physical activities.

High contact sports such as soccer, hockey and rugby are not suitable for them whereas swimming, table tennis, badminton, cycling, rowing and chess are safe. If the child develops symptoms at school they should direct him to hospital immediately and inform the parents.

Q. Do children with haemophiolia have a lower IQ than normal children?

A. Children with haemophilia are intellectually equal with their peers and should, therefore, not be discriminated against. At work the colleagues and the superiors also should have an understanding about their condition and be able to offer a supporting hand whenever necessary.

They should not be occupied in more strenuous physical engagements which carry risk of bleeding.

In their day to day routine in public places, the road, at supermarkets, religious places and public transport, the public should also care another member of their society if a necessity arises to help him. Everybody has a responsibility in the society to live with healthy hygienic habits mostly inculcated by their traditions and culture.

Q. Your advice on any other special health risks that such patients face?

A. Haemophilia patients in particular should be responsible in living in correct hygienic routine including special dental care to prevent getting dental caries, and also rushing to the nearest hospital where Haemophilia care is available at the very beginning of symptoms, what they called 'aura.' Attending clinics, regular dental checkups and receiving scheduled vaccinations at appropriate times are also part of their responsibility.

Available and possible genetic testing should be offered to, at risk female family members of haemophilia patients to facilitate making more informed choices regarding future pregnancies and prenatal diagnosis.

However termination of pregnancy due to affected haemophilia foetus is still not legalised in Sri Lanka.

The Haemophilia Association of Sri Lanka is founded in year 2000 and is a 500-member society to date, which raises a voice for each and every individual haemophilia patient in Sri Lanka with a link to World Haemophilia Federation. However, haemophilia is a lifelong disabling disease which has no cure other than factor replacement and preventive or supportive care.

These members of our society are intellectually normal and live courageously with us, contributing in many ways to the country's economy through all walks of life; in fact some of them are outstanding professionals, artists, businessmen, students and even sports personnel.

Let us salute them for their courage to live despite all hardships that they face in the course of events in life.

Only five percent wash hands correctly

Remember Mom's advice about washing your hands thoroughly after using the restroom? Apparently not.

A new study found that only five percent of people who used the bathroom washed their hands long enough to kill the germs that can cause infections.

What's more, 33 percent didn't use soap and 10 percent didn't wash their hands at all. Men were particularly bad at washing their hands correctly.

The study, based on observations of 3,749 people in public restrooms, appears in the Journal of Environmental Health. "These findings were surprising to us because past research suggested that proper hand washing is occurring at a much higher rate," said Carl Borchgrevink, associate professor of hospitality business and lead investigator on the study. Hand washing is the single most effective thing one can do to reduce the spread of infectious diseases, according to the Centres for Disease Control and Prevention. Failing to sufficiently wash one's hands contributes to nearly 50 percent of all food-borne illness outbreaks It takes 15 to 20 seconds of vigorous hand washing with soap and water to effectively kill the germs, the CDC says, yet the study found that people are only washing their hands, on average, for about 6 seconds.

Borchgrevink and colleagues trained a dozen college students in data collection and had them observe hand washing in restrooms in bars, restaurants and other public establishments. The student researchers were as unobtrusive as possible - by standing off to the side and entering results on a smart phone, for example. The study is one of the first to take into account factors such as duration of the hand washing and whether people used soap.

Specific findings include:

- Fifteen percent of men didn't wash their hands at all, compared with seven percent of women.

- When they did wash their hands, only 50 percent of men used soap, compared with 78 percent of women.

- People were less likely to wash their hands if the sink was dirty.

- Hand washing was more prevalent earlier in the day. Borchgrevink said this suggests people who were out at night for a meal or drinks were in a relaxed mode and hand washing became less important.

- People were more likely to wash their hands if a sign encouraging them to do so was present.

Borchgrevink, who worked as a chef and restaurant manager before becoming a researcher, said the findings have implications for both consumers and those who operate restaurants and hotels.

"Imagine you're a business owner and people come to your establishment and get food-borne illness through the faecal-oral route - because people didn't wash their hands - and then your reputation is on the line," he said. "You could lose your business."

- Medicalxpress

Professional women more susceptible to breast cancer

Successful women may be more likely to develop breast cancer - and stress at work, including prejudice, discrimination, and resistance, could be to blame. Women in professional jobs had a near 70 percent higher risk of breast cancer than other women, according to new research.

The research, based on a 55-year study of women who were in their thirties in the 1970s, links job stress and cancer, and shows that the longer a woman held the job, the greater the risk. The researchers say that while women going into management in the 1970s were breaking new ground, the same kind of stress affects women today.

"Women who entered managerial occupations in the 1970s experienced prejudice and discrimination due to prevailing cultural attitudes that men made better leaders than women,'' says Dr Tetyana Pudrovska, who led the study. "Neither men or women preferred to work for a woman because women were seen as "temperamentally unfit" for management, which was consistent with the cultural stereotype of the woman boss.

"Exercising job authority was particularly stressful for women in the context of gender inequality embedded in the occupational structure of the time, when women in managerial positions often faced prejudice, tokenism, discrimination, social isolation, and resistance from subordinates, colleagues, and superiors. We believe that women are still facing the same kind of stresses, and therefore the increased risk is likely to be there...today."

The study focused on nearly 4,000 women who were all aged 36 in 1975.

-The Independent

Diabetes diagnosed through cheaper methods

Diabetes patients often receive their diagnosis after a series of glucose-related blood tests in hospital settings, and then have to monitor their condition daily through expensive, invasive methods. But what if diabetes could be diagnosed and monitored through cheaper, noninvasive methods?

Chemists at the University of Pittsburgh have demonstrated a sensor technology that could significantly simplify the diagnosis and monitoring of diabetes through breath analysis alone. Their findings were published in the latest issue of the Journal of the American Chemical Society (JACS).

Even before blood tests are administered, those with diabetes often recognise the condition's symptoms through their breath acetone - a characteristic "fruity" odor that increases significantly with high glucose levels. The Pitt team was interested in this biomarker as a possible diagnostic tool.

"Once patients are diagnosed with diabetes, they have to monitor their condition for the rest of their lives," said Alexander Star, principal investigator of the project and Pitt associate professor of chemistry. "Current monitoring devices are mostly based on blood glucose analysis, so the development of alternative devices that are noninvasive, inexpensive, and provide easy-to-use breath analysis could completely change the paradigm of self-monitoring diabetes."

Together with his colleagues - Dan Sorescu, a research physicist, and Mengning Ding, a Pitt graduate student studying chemistry - Star used what's called a "sol-gel approach," a method for using small molecules (often on a nanoscale level) to produce solid materials. The team combined titanium dioxide - an inorganic compound widely used in body-care products such as makeup - with carbon nanotubes, which acted as "skewers" to hold the particles together. These nanotubes were used because they are stronger than steel and smaller than any element of silicon-based electronics.

This method, which the researchers playfully call "titanium dioxide on a stick," effectively combined the electrical properties of the tubes with the light-illuminating powers of the titanium dioxide. They then created the sensor device by using these materials as an electrical semiconductor, measuring its electrical resistance (the sensor's signal). The researchers found the sensor could be activated with light to produce an electrical charge. This prompted them to "cook" the "skewers" in the sensor under ultraviolet light to measure acetone vapors - which they found were lower than previously reported sensitivities.

"Our measurements have excellent detection capabilities," said Star. "If such a sensor could be developed and commercialised, it could transform the way patients with diabetes monitor their glucose levels."

The team is currently working on a prototype of the sensor, with plans to test it on human breath samples soon.

-MNT