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Q: What are other general measures to be taken care of in hemophilia?
A. Newborns with hemophilia rarely bleeding. If bleeding occurs, it may be in the CNS or sub-galeal region. Vacuum extraction is contra-indicated. If fetus is large or if labor is difficult, Caesarian section should be considered. Newborns with hemophilia should not be circumcised. Femoral or jugular venipuncture should not be attempted. Venipuncture in superficial veins can be done. Also, routine intramuscular injections may be given. Immunization against Hepatitis A and B is also advisable.

For babies with hemophilia, the home environment should protected. The floor should be carpeted. Trouser and long sleeved shirts should be padded internally at the levels of the knees and elbows to protect from falls and bumps.

For children, contact sports should be avoided. Good dental care should be advised. Physical exercise is advised as strong muscles support joints and may prevent profuse bleeding.

Q: How are the joints protected in hemophiliacs?
A. In hemophiliacs, joint bleeding and re-bleeding is common. Bleeding into joints cause inflammation of the synovium. With repeated hemorrhages, chronic synovitis may ensue leading to proliferation of the inflamed vascular synovial membrane causing rebleeding. Thus, a vicious cycle is created. Cartilage is gradually destroyed and bone is reabsorbed causing degenerative arthritis. Joint bleeding during growing years may cause excess growth at the ends of long bones leading to limb-length discrepancies. Hemorrhage into muscles may lead to atrophy and contracture.

Chronic synovitis - It presents with effusion commonly in the knee causing a swollen, boggy and warm joint. Concentrate prophylaxis for 2-4 weeks plus 1-2 weeks course of oral prednisone (0.5 mg/kg/d) should be tried. While concentrate is being given, the strength of the adjacent muscles should be improved with isometric and other exercises. Posterior splints should be worn at night to avoid injury during sleep.

It the above measures fail, synovectomy should be considered.

Flexion contractures - it is commonly seen at the elbow and the knee. At the elbow, an enlarged radial head often impedes forearm rotation. Excision of the radial head may prove to be beneficial. Knee flexion contractures can be treated with cylinder casts around the thigh and calf.

Degenerative Arthritis - It is seen adults with severe hemophilia. They benefit from use of NSAIDS and weight reduction. If chronic disabling pain persists in shoulder, ankle or subtalar joint, joint fusion may give relief. Prosthetic knee, hip or shoulder replacement may be useful.

Q: What are the other complications of hemophilia?
A. Most hemophiliacs treated with concentrates before 1986 have been tested to be HIV positive. Factor concentrates are now subjected to screening and viral inactivation to eliminate HIV transmission. With proper viral inactivation methods, the risk of Hepatitis B and C has already decreased. Immunization with Hepatitis B vaccine has eliminated the risk of hepatitis B.

Q: What are other therapies available for hemophilia?
A. Gene therapy for hemophilia A and B is being tried in animal studies. Gene therapy dose not change the patent's genotype or his likelihood to transmit the disorder to his offspring.

Q: How can Hemophilia be detected prenatally?
A. Chorionic villus biopsy at 8 weeks gestation on amniocentesis at 12-14 weeks can be used for prenatal diagnosis by DNA analysis if the mother's carrier state is demonstrated either by mutation analysis or Restriction Fragment Length polymorphism study. If DNA analysis is not available, fetal blood can be aspirated at 18-20 weeks gestation. If pure fetal blood is obtained, factor VIII activity can be assayed. If fetal blood mixed with amniotic fluid is obtained, factor VIII: Ag can be measured.

Q: How are carriers detected?
A. Most carriers have a factor VIII level between 30-70 U/dl. Factor VIII levels should be assayed in all females who might be carriers to identify those with levels below 30U/dL. These women should be treated the same way as male hemophiliac with similar factor levels.

Assays of factor VIII activity and VWF: Ag can be used to predict whether a given woman is a carrier. If the factor VIII level is below normal, then she is designated as a true carrier. If her factor VIII level is in the normal range, but her VWF :Ag is higher, then she is a true carrier.

When a definite diagnosis of the carrier state can not be made, the probability of being a carrier is calculated from family tree analysis.

Recently, carrier identification can be done by examination of factor VIII gene and DNA analysis and Restriction fragment length polymorphisms

Last created on 08-12-2000
Last updated on 01-07-2006