The pennsylvania hemophilia program 1973–1978

Abstract

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.

Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors

“…Internal quality system was performed for FVIII activity tests; however, external quality system was not available at that time. The clinical criteria of Eyster et al [18] were used to determine disease severity. High-responder patients were selected from patients with inhibitor levels more than 5 BU/ml.…”

Nine independentF9 mutations in the Mexican hemophilia B population: Nonrandom recurrences of point mutation events in the human germline

“…Germline origin of mutation was determined in three of the five families with sporadic cases. The germline origins and haplotype analysis (Table 1) (Eyster et al, 1980). b HB760: the sequence change at 17678 was present in the index patient and mother, but absent from both maternal grandmother and grandfather.…”

“…All patients were of Hispanic (mixed Native American and Spanish) origin (Thorland et al, 1995). The criteria of Eyster et al were used in assigning clinical severity (Eyster et al, 1980).…”

T296?M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection

“…Using the clinical criteria of Eyster et al (1980), the patients with the M 296 mutation have mild hemophilia B. They require factor IX replacement only for surgery, dental extraction, or major trauma.…”

“…These values dramatically illustrate the importance of correlating clinical severity with a mutation rather than factor IX coagulants by referring centers. As shown in Table 2, when factor IX coagulant on all seven individuals was concur- Table 1 for numbering of haplotypes b Assayed from plasma drawn subsequent to the factor IX coagulant activity (FIX : C) sent by the referring center c Criteria of (Eyster et al 1980) d Received FIX replacement within 24 h of donating blood for this study HB85 is a distant relative of HB19, added only to compare FIX: C values rently measured in once laboratory, the values varied only twofold with the exception of HB70 (who received factor I X replacement therapy for major surgery before donating blood). Analysis of hemophiliacs with the Y 397 mutation provides additional support for the importance of classifying the severity of hemophilia by clinical criteria (Bottema et al 1990).…”