18 THROMBOSIS RESEARCH Suppl. VI, 1986 34 PmALDIAGJ%IS at-idCARRIERDEIERMINATIONin~PHILIABUSINGTHREE CZNE-SPECIFIC POLYIQRPHIC DNA MARKERS. F. Giannelli, A. Morris, C.Thurston, R. Warren,R.S. Mibashan. Prince Philip ResearchLaboratories, Guy's Hospital, London SEI, and Depts. of Obstetrics and Haematology, King's CollegeHospital, Imdon SE5, U.K. Studieshave been perfomsd in 53 femalemembersof 22 haermphilia B families using 3 factorIX specificDNApolyrmrphisms,Taq I, Xmn I andHinf I. The aim was to providegeneticcounselling by identifying carrierstatusand de- terminingfetalgenotypewhen indicated. Thirty-tw0wme.nwere eitherobli- gate carriers.or mothersof a singleaffectedindividual, and 23/32 ware heterozygous for at least one of the markers- a necessaryconditionfor diagnosing descendants' statusby DNA polymorphisms. This result is in keepingwith a theoretical expectation of 68% (Winship et al, NAR, 12:8861, 1984). Haermphilia B genotypewas also assessedin 21 other wmen who were putativecarriersbecausethey belongedto a haemophilic family (14)or had a solitaryaffectedrelative (7). Six out of 14 could be confirxed as carriers and amther 6 positively excluded;so far carrierstatuscould only be excluded. in l/7 of the sporadicgroup - but successin this category will vaxywithfamilystructure. Early prenataldiagnosisusing these three gene-specific DNA markerswas carriedout in one nom1 male, one carrier femaleand two as yet undelivered female fetuses. 35 LA.V/HTLV III ANTIBODIES IN SWEDISH HAEMOPHILIACS; IN RELATION TO TYPE AND DOSAGE OF FACTOR CONCENTRATE. E. Berntorp, G. Jarevi, A. Vedback and I.M. Nilsson. Department of Coagulation Disorders, Lund University, Malmij General Hospital, Malmo, Sweden. Three groups of haemophilia A patients were formed according to LAV/HTLV III antibody status and type of factor concentrate used in treatment. Group 1 comprised 36 seropositive patients, groups 2 and 3 44 and 25 seronegative patients, respectively. Groups 1 and 2 were treated with factor concentrates of American plasma origin and also in most cases with concentrates of Swedish origin. Group 3 received Swedish concentrates only. Seroconversion in group 1 was established by retrospective LAV/HTLV III antibody testing of sera stored frozen for several years. Most patients had seroconverted in 1980-82 (n=22), and in no patient could seroconversion be found after the introduction of heat-treated American factor concentrates in Jan 1983. The groups had received comparable amounts of factor concentrate, about 2000 U per kg and year. The ratio between Swedish and American concentrates was 0.84 and 3.33 in groups 1 and 2, respectively. Two patients in group 1 had each received only one batch of American factor concentrate (4000 and 15,000 U). Without causing seroconversion, 69,000 U of the same batch had been given to one group 2 patient who also had a normal T4/T8 ratio. We conclude that LAV/HTLV III has been transmitted to Swedish haemophiliacs by American factor concentrates before 1983 when heat treatment was introduced, though there is great diversity in susceptibility to LAV/HTLV III.

LAV/HTLV III antibodies in swedish haemophiliacs; in relation to type and dosage of factor concentrate

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Page 1: LAV/HTLV III antibodies in swedish haemophiliacs; in relation to type and dosage of factor concentrate

18 THROMBOSIS RESEARCH Suppl . VI, 1986

PmALDIAGJ%IS at-idCARRIERDEIERMINATIONin~PHILIABUSINGTHREE CZNE-SPECIFIC POLYIQRPHIC DNA MARKERS. F. Giannelli, A. Morris, C.Thurston, R. Warren, R.S. Mibashan. Prince Philip Research Laboratories, Guy's Hospital, London SEI, and Depts. of Obstetrics and Haematology, King's College Hospital, Imdon SE5, U.K. Studies have been perfomsd in 53 female members of 22 haermphilia B families using 3 factor IX specificDNApolyrmrphisms,Taq I, Xmn I andHinf I. The aim was to provide genetic counselling by identifying carrier status and de- termining fetalgenotypewhen indicated. Thirty-tw0wme.n were either obli- gate carriers.or mothers of a single affected individual, and 23/32 ware heterozygous for at least one of the markers - a necessary condition for diagnosing descendants' status by DNA polymorphisms. This result is in keeping with a theoretical expectation of 68% (Winship et al, NAR, 12:8861, 1984). Haermphilia B genotype was also assessed in 21 other wmen who were putative carriers because they belonged to a haemophilic family (14) or had a solitary affected relative (7). Six out of 14 could be confirxed as carriers and amther 6 positively excluded; so far carrier status could only be excluded. in l/7 of the sporadic group - but success in this category will vaxywithfamilystructure. Early prenatal diagnosis using these three gene-specific DNA markers was carried out in one nom1 male, one carrier female and two as yet undelivered female fetuses.

LA.V/HTLV III ANTIBODIES IN SWEDISH HAEMOPHILIACS; IN RELATION TO TYPE AND DOSAGE OF FACTOR CONCENTRATE. E. Berntorp, G. Jarevi, A. Vedback and I.M. Nilsson. Department of Coagulation Disorders, Lund University, Malmij General Hospital, Malmo, Sweden.

Three groups of haemophilia A patients were formed according to LAV/HTLV III antibody status and type of factor concentrate used in treatment. Group 1 comprised 36 seropositive patients, groups 2 and 3 44 and 25 seronegative patients, respectively. Groups 1 and 2 were treated with factor concentrates of American plasma origin and also in most cases with concentrates of Swedish origin. Group 3 received Swedish concentrates only. Seroconversion in group 1 was established by retrospective LAV/HTLV III antibody testing of sera stored frozen for several years. Most patients had seroconverted in 1980-82 (n=22), and in no patient could seroconversion be found after the introduction of heat-treated American factor concentrates in Jan 1983. The groups had received comparable amounts of factor concentrate, about 2000 U per kg and year. The ratio between Swedish and American concentrates was 0.84 and 3.33 in groups 1 and 2, respectively. Two patients in group 1 had each received only one batch of American factor concentrate (4000 and 15,000 U). Without causing seroconversion, 69,000 U of the same batch had been given to one group 2 patient who also had a normal T4/T8 ratio. We conclude that LAV/HTLV III has been transmitted to Swedish haemophiliacs by American factor concentrates before 1983 when heat treatment was introduced, though there is great diversity in susceptibility to LAV/HTLV III.