Prevalence Of Hemophilia Research Articles

ACQUIRED IMMUNODEFICIENCY SYNDROME (AIDS) IN PEDIATRIC HEMOPHILIACS

Three of 35 U.S. children (<18 years old) with AIDS reported to the Centers for Disease Control (CDC) as of December 1983 had hemophilia. We summarize these and 2 European pediatric AIDS patients with hemophilia, reported to CDC. All 5 patients were white and male; ages ranged from 9-16 years. Four patients had severe hemophilia A; 1, moderate hemophilia B. Two cases resided in New York; 1, in Pennsylvania; the European cases were Spanish and siblings. Four patients presented with fever and weight loss; all had pulmonary symptoms. All cases had laboratory findings consistent with AIDS and had opportunistic infections (OI) including Pneumocystis carinii pneumonia, systemic cytomegalovirus, and systemic fungal infections. Three patients (60%) have died. None had other known risk factors for AIDS or immunosuppressive therapy. The hemophilia B patient received 2 units of whole blood in 1982 and no other blood products. Factor VIII was the only blood product received by both U.S. hemophilia A patients in the past 5 years. The prevalence of hemophilia in pediatric AIDS patients is much higher than its estimated population prevalence (1 in 10,000), indicating that hemophilia is a risk factor for AIDS. AIDS may occur in those receiving only factor or only whole blood therapy. Pediatricians should consider AIDS in any patient with hemophilia and unexplained weight loss, fever, or OI. To help further clarify the role of blood products in AIDS transmission, they should inquire about all product usage and other AIDS risk factors.

The Pennsylvania hemophilia program 1973-1978.

In Pennsylvania, the prevalence of hemophilia is one per 10,000 males. Factor VIII deficiency is five times more frequent than Factor IX deficiency, and 34% of the patients have no relatives affected with the disease. The mean age is 23 years old, and 50% of the patients are less than 20 years old. Approximately one-third of the patients with Factor VIII deficiency and one fourth of the patients with Factor IX deficiency have levels of less than 0.01 mu/ml. By clinical criteria, 55% of those with Factor VIII deficiency are severe compared to 45% of those with Factor IX deficiency. Factor VIII-deficient patients are treated an average of 18 times per year compared to ten times per year for patients with Factor IX deficiency. Hemarthroses account for 70% of the hemorrhages treated and for 40% of the concentrate usage. Home therapy patients use an average of 45,950 Factor VIII units per year at a cost of ø170 per patient and their use accounts for 60% of the total Factor VIII usage of 1.7 million units. Less than five days per patient per year are lost from school or work because of bleeding, and patients are hospitalized for bleeding an average of only two to three days per patient year. Adverse immediate reactions to therapy are infrequent. Five percent of patients have persistence of the hepatitis B virus, and 7.5% have inhibitors. The mortality rate is 0.04% per year, with half of the deaths being hemophilia-related.

Genetic characteristics of hemophilia A in Chile.

A genetic and demographic study of 40 kindreds (113 cases) with hemophilia A, representing one quarter of all Chilean cases is reported. Only 10 sporadic cases were found. Segregation analysis of progeny from matings Aa X AY showed p = 0.2206 +/- 0.043. Fertility of 59 obligatory carriers was 3.88 children per mother with a mean age of 49.9 years, a figure higher than the mean of a control population, 3.36. The fertility of hemophiliacs was found to be 2.3 compared with their normal sibs with 3.15 children per couple. Life expectancy at birth in hemophiliacs was 22.4 years, compared with 28.1 for their normal brothers, 34.4 for their sisters and 58.5 and 64.6 for males and females in the general population. Mean relative fitness was calculated as 0.45 and the prevalence of hemophilia A in Chile as 1 case among 13,500 males. A preliminary estimate of the mutation rate was 1.35 X 10-5, within expected ranges. During the last 10 years, family planning and modern treatment with cryoprecipitates have increased the mean age of living hemophiliacs from 12.7 up to 22.7 years, and life expectancy from 15.6 to 22.4 years. Probably relaxation of natural selection will account for a possible increase of new cases of hemophilia A in the near future.