Hemophilia – A bleeding disorder
Hemophilia is a bleeding disorder where the blood does not clot normally due to deficiency of clotting factors; i.e. it takes a much longer time to clot compared to the normal 8-9 mins . In lay terms, normally, if blood is dropped on the ground or on the table, it clots in 8-9 mins. In hemophiliacs this does not happen and blood continues to be in fluid shape and keeps flowing. Therefore in hemophiliacs, an injury would lead to prolonged bleeding resulting in blood loss which can be life threatening. If the injury is a small cut, the bleeding can often be stopped with application of pressure locally. Bleeding in case of surgeries or internal bleeding as in the case of joints/brain or organs can be problematic and can endanger life.
Hemophilia is an inherited disorder and therefore is usually identified in childhood itself, between 9 months and 2 years of age. Like most genetic disorders, it is not curable. Hence an understanding of the disorder by the patient and his family can help maintain an active and productive lifestyle.
The intensity of hemophilia in an individual depends on the level of clotting factors present in his body. This clotting factor level estimation is called ‘Factor Assay’. This level too is genetically determined and is constant throughout life. Depending on the level, the Clotting factor deficiency can be mild, moderate or severe. It is the severely deficient hemophiliacs that are at maximum risk.
The child or patient presents with one or more of the following symptoms: (i) prolonged or excessive bleeding from injuries, or surgery, or dental procedures
(iii) Pain and swelling in joints, commonly knees and ankles and sometimes elbows, hips and shoulders
(iv) Nosebleeds or gumbleeds
(v) Any other bleeding such as in urine, stools, etc.
The bleeding can sometimes be sudden and excessive and can be an emergency situation forcing the individual to report to emergency for immediate attention. Any prolonged bleeding or easy bruising in a small boy should be reported to a doctor for further evaluation and management.
Though hemophilia is an inherited condition in the majority, in 30% of the cases it is caused by a change in the genes called spontaneous mutation. There would therefore be no family history in such cases. In other words, a patient with excessive bleeding needs to be evaluated for hemophilia and clotting factor deficiency, even though there is no family history. An female with a family history of hemophilia and who is pregnant or intending to conceive should consult a doctor for genetic testing and exclusion of occurrence of hemophilia in the fetus. In such a case where fetus is effected or likely to be affected, medical termination of the pregnancy can be considered.
There are two main types of hemophilia – Hemophilia A and Hemophilia B, both occurring only in males. Hemophilia A is caused by Clotting Factor VIII deficiency and is the most common type. Hemophilia B is caused by Clotting Factor IX deficiency and is the second most common type.
Hemophilia C is rare and can occur in both sexes and is caused by Clotting Factor XI deficiency.
The gene that causes Hemophilia is located on the sex chromosome X. A female has two X chromosomes, one from her mother and the other from her father. The chromosome that is normal is dominant and hence a female will not manifest hemophilia (i.e. there are no signs or symptoms of bleeding), but only remains a carrier of the gene. A male has XY sex chromosomes, X coming from his mother and Y from his father. As Y is different from X and cannot dominate it, the male manifests hemophilia if he gets the hemophilia carrying X chromosome from his mother.Therefore hemophilia is typically is seen in males.
When a patient presents to the hospital the diagnosis is made after a series of tests viz., coagulation profile, mixing experiments wherein the factor that is deficient is identified. This is then quantified with the relevant Factor Assay, and characterized as mild, moderate or severe. Depending on the degree of the deficiency, the factor deficiency is corrected after arriving at the necessary dose through a standard calculation. The factor is then supplemented at this dose every eight hourly till the bleeding stops completely. The factor is available in fresh frozen plasma or cryoprecipitatepreparations in blood bank or as factor VIII or IX concentrate injections prepared through recombinant technology or as a derivative of donated human blood.
The complications of Hemophilia include swelling due to internal bleeding in the muscles, pain and numbness due to pressure of the bleed on nerves. The joints can get damaged and develop arthritis called hemarthroses. This may need joint replacement if the arthritis becomes severe and leads to frozen joints. Infection is another complication that the hemophiliacs have to contend with, due to the blood component transfusions that they undergo, especially Hepatitis and HIV. This can be avoided if only genetically engineered recombinant factor concentrates are used. Availability of these concentrates at all places and exhorbitant cost are the problems faced by the majority of the populace in India.Desmopressin hormone (DDAVP) injection or nasal spray is a cheaper alternative useful in ‘mild’ hemophiliacs .
Some of the preventive measures that hemophiliacs should follow are (i)Vaccination against Hepatitis A and B; (ii) avoiding drugs like aspirin and ibuprofen and using paracetamol as a safer alternative; (iii) avoid blood thinners like heparin and warfarin; (iv) practice good dental hygiene (v) avoid injuries; (vi) avoid intramuscular injections (vii) wear a medical bracelet indicating that the individual is a hemophiliac and (viii) let the individual’s friends, teachers and coaches know about his condition.