Bleed, bleed, bleed — why?
Haemophilia: some hope has come from new research
Dr J.G. Jolly

HAEMOPHILIA is a hereditary disease characterised by the deficient activity of blood-clotting factors. These factors, present in normal blood, are necessary for blood clotting, and by current convention, they are numbered with Roman numerals from I to XII. By far, the commonest deficiency is that of Factors VIIIand a person deficient in this factor is said to have classical haemophilia.

No account of the genetics of haemophilia is complete without the mention of the disease in European royalty. Queen Victoria was a carrier of the gene, which she passed on to at least three of her nice children. Her grand daughter, the Czarina of Russia, transmitted the disease to her only son, the Czarevitch. The family's desperate attempts to seek help for him led to the great influence of the monk named Resputin and perhaps played a part in the causes of the Russian revolution. Strangely, it is not clear that the X-linked pattern of haemophilia was recognised by the royal families or their advisers, even though it had been described before Victoria's birth in scientific reports and, in fact, was spotted many centuries ago.

The clotting of blood is a curious and necessary phenomenon which prevents the escape of blood from the injured vessels. The scientific name for clotting is coagulation, while haemostasis is a term which means the stopping of bleeding. Fortunately, while blood is circulating within normal vessels, which are called arteries, veins and capillaries, clotting does not occur. A haemophiliac's blood lacks a specific blood clotting factor, and, as a result, his ability to form a blood clot is decreased. In turn, this decrease leads to bleeding which can only be controlled by the replacement of the missing factor.

It has become equally important to determine whether any given patient lacks a clotting factor entirely, or whether he has the factor but it is defective in its structure and action. In either case, clotting is abnormal, but only those with no factor will, theoretically at least, be likely to develop antibodies.

The progressive arthropathy of limb joints is the hallmark of severe haemophilia which is responsible for most of the disability associated with the disorder. Once known as such, the mild bleeder is easily controllable and causes few problems in management. For these reasons only the severe haemophiliac will be henceforward considered.

Acute bleeding into joints and subsequent chronic degenerative changes are the hallmarks of severe haemophilia and give rise to most of the problems arising from the disease. The knees, elbows and ankles are seldom spared. Repeated bleeding into these joints will cause more damage sooner than will a single acute haemarthorosis.

The first haemarthrosis usually occurs when a toddler starts to walk. While a slow bleed may take a few hours to result in noticeable signs, more often there is no doubt within hour or so. Movement is impossible due to pain, and the position of maximal comfort is adopted. The joint becomes swollen and warm to the touch. There is associated spasm of the adjacent muscles and blood within the joint is under remarkable tension. Untreated, the acute phase lasts several days, with gradual resolution to normal joint appearance and function the following two to four weeks.

As soon as a child is diagnosed as a haemophiliac, parents must take measures to prevent or minimise the severity of bleeding. Cribs and playpens should be paddled with rubber or plastic foam wrapped in cotton flannel strips. Toys should be either made of soft plastic or cloth. Regular dental-care should begin by the age of two years. At an early age, the education of a haemophiliac child, other children in the family and playmates about the nature of haemophilia and the necessary limitation of activity must begin.

Parents have to achieve a balance between overprotection on the one hand, and allowing excessive or dangerous activities on the other.

Specific measures to prevent the occurrence of bleeding in a haemophiliac mean the administration of the missing blood factor on a regular basis to provide partial correction of the defect in blood coagulation. Spontaneous bleeding or bleeding after minor injury can be prevented by this means.

Ideally, the haemophiliacs should receive regular treatment just as the diabetics receive insulin but, for many reasons.

The ultimate goal is difficult to achieve. First of all, the use of the clotting factors obtained from animals invariably lead to resistance when used in humans. The human sources of clotting factors are available although in most countries these still fall short of the requirements. This problem is not insurmountable and our predictions are that the supplies will meet the demands. It may be used to maintain muscle tone during the immobilisation of an acute haemarthrosis, or sometimes to hasten the return of movement to a joint after a severe haemarthrosis.

The "Haemophilia Clinic" is a facility assuming long-term, overall management of the disease. It will usually be located in a hospital outpatient. It offers consultation in the necessary areas of specialised knowledge:(1) haemotological, (2) surgical and orthopaedic (3) physical and physiotherapeutic, (4) dental, (5) social, (6) psychological and (7) educational.

The management of haemophilia by the transfusion of the coagulation factor: cryoprecipitate or factor VIIIis of paramount importance. At the same time ensuring the safety of recipient from transmissible diseases like AIDS, Hepatitis B and C and venereal diseases need care in screening the donor blood. For this, the blood obtained from voluntary donors and the heat-treated coagulation factor for transfusion are the latest measures to ensure perfect safety from endangering the life of haemophiliacs.

HEALTH BULLETIN

Calorie-rich meals worsen heartburn

People who suffer from gastroesophogeal reflux disease (GERD) are often warned against fatty food, which is thought to exacerbate heartburn symptoms. But while a low-fat diet has myriad health

benefits, it may not necessarily help people with GERD, according to Dr. Roberto Penagini, from the University of Milan in Italy.

Bulimics apt to binge in morning

Everyone craves a bag of potato chips, a bowl of chocolate ice cream or a juicy steak from time to time. But for people with bulimia nervosa, these cravings can trigger a cascade of reactions that culminate in a binge of thousands of calories, researchers report. 

Gene therapy trial data soon

In response to concerns about the safety of human subjects involved in gene therapy or animal-to-human transplantation trials, the US Food and Drug Administration (FDA) has proposed a rule that would make information on all such studies publicly available. 

Muscle protein helpful to heart

A protein that puts the pep in sprinters' strides may one day be used to treat a common form of heart failure, researchers report. 

HEALTH Q&A

DR ANIL THAPAR ANSWERS READERS' QUESTIONS

Q Kindly remove my apprehensions about my asthmatic child.

A Here are broad guidelines for you and other parents.

1. The best treatment for asthma is to prevent it.

2. Protect the child from sources of smoke, such as:

° cigarettes;

° kitchens;

° vehicles;

3. Protect him/her from fumes such as:

° anti mosquito mats/coils/liquids;

° insecticidal sprays, such as flit;

° dhoop;

° agarbattis;

° any other chemical fume.

4. Do not use perfumes or air freshners in a closed room.

5. Keep away pets like dogs or cats from the child as far as possible.

6. Remove the congress grass from the vicinity.

7. Keep the child's room and its atmosphere free from house dust which breeds mites, a common cause of respiratory allergy.

° The wet mopping of floors twice daily is helpful

° Make the child's bed when he/she is away to school or playing outside.

° No carpets/durries in the room please.

° The minimum of curtains in the room; these should be washed every week.

° Keep a potted neem plant in the room.

° If possible, instal an air-conditioner or air-purifier in the room.

8. Remove cockroaches from the house.

9. Avoid common allergens, especially those which have been known to induce attacks of asthma in the child. The following articles may become common causes of allergy in children:

° milk;

° eggs;

° fish;

° nuts;

° artificial food colours, e./g tartazine;

° food additives, e.g ajinomoto;

° food preservatives;

° soyabean;

° cold drinks;

° fried food;

° aspirin and other pain-relieving drugs Ibuprofen and Nimesulide.

10.Avoid exposure to sudden changes in the environmental temperature.

11. Continue breast-feeding the child till the age of two years.

12. Remember that asthma can be controlled, and that inhalation therapy (with spacers, rotacaps and nebulisers) is better than orally administered drugs. Learn the proper use of these devices from your paediatrician.

13. An acute attack of asthma, which remains uncontrolled at home, may need hospital treatment with oxygen therapy, intravenous fluids and drugs along with nebulisers/spacer. The child may even need artificial ventilation. Therefore, shift him/her to the hospital immediately if he turns pale or blue, or gets restless and exhausted, is unable to speak or becomes unconscious.

A Yes, in the USA. Certain nurses with advanced training would be able to deliver anesthesia to Medicare patients without physician supervision in states that allow it, under rules to be published in the Federal Register Thursday.