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Statistical and serological evidence from a large kindred and two unrelated adults indicates that Targett (Tar) is an antigen in the Rh blood group system and that its presence is assocciated with a weak expression of the Rh antigen D. In the numerical notation the Tar antigen is designated Rh40.
The number of Rh-isoimmunized pregnancies in Manitoba has been reduced from 223 and 228 in the years ending Oct. 31, 1963 and 1964 to 60 and 62 in the years ending Oct. 31, 1974 and 1975. The number per 1000 total births in the same years has decreased from 10.0 and 10.6 to 3.4 and 3.5 Perinatal mortality rates in those years decreased from 13.8 amd 15.7% to 0 and 2.2%, respectively. The number of perinatal deaths has been reduced from 55 in the first 2 years reported to 1 in the last 2 years. Among the 121 isoimmunized women pregnant in the 2-year period ending Oct. 31, 1975, isoimmunization was due to failure to give Rh immune globulin after delivery in 33 and failure to give it during pregnancy in 48. Of the remaining 40, 37 were immunized before Rh immune globulin became available. Complete prevention of Rh isoimmunization and therefore of all perinatal deaths from Rh erythroblastosis can only be achieved through universal Rh testing prenatally and immediately after delivery, and institution of an antenatal Rh prophylaxis program.
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ABO and Rh (D--,dd) phenotype frequencies and gene frequencies are reported on 1547 pregnant women from different populations in the Outer Hebrides. There was significant heterogeneity of ABO gene frequencies in the Isle of Lewis, but not in or between other populations. More heterogeneity was apparent at the Rh locus, significant amounts being present between the populations of rural Lewis, between Lewis and Harris and between Lewis, Harris and the combined populations of North and South Uist, Benbecula and Barra. There was no evidence of heterogeneity due to religion in Benbecula or South Uist. Data on exogamy and endogamy suggest that migration between the various populations has been at a level sufficient to prevent or correct any tendency to genetic diversification. It is suggested tentatively that the heterogeneity observed may be the result of the massive emigration from the islands which has occurred over the last 150 years.
In a group of male addictive alcoholics, some palmar and fingerprint characteristics were determined, as well as the ABO, MN, Ss, Kell, Duffy, Lewis, and P blood groups, Rh and Hp phenotypes, HLA and Au antigens, immunoglobulins, blood sugar, cholesterol, SGOT, SGPT, and karyotypes. In comparison with the normal population the alcoholics show increased occurrence of whorls and arches on the fingers, decrease in the total ridge count, sharpening of the atd angle, and separation of the lower from the upper transverse line. Genetic markers in the blood of alcoholics show different frequencies of A, Lewis a-b+, Lewis a-b-, Duffy a-, Duffy a+, SS, and M blood groups, CcD-ee, Hpl-1, Hp2-1 phenotypes, and HLA-5, HLA-7, w10, w16, and w5 antigens. These findings may be expected to lead soon to detection of the predisposition to the development of alcohol addiction caused by some genetic malformations.
BACKGROUND: von Willebrand disease (VWD) is a common inherited bleeding disorder caused by low levels or activity of circulating von Willebrand factor (VWF). Genetic susceptibility to VWF antigen (VWF:Ag) below normal (≤ 50 IU/dL) in the general population is underexplored. OBJECTIVES: To identify genetic variants influencing VWF:Ag levels ≤ 50 IU/dL. METHODS: We performed a genome-wide association study in 926 cases with VWF:Ag levels ≤ 50 IU/dL and 12 846 controls from 7 studies from the Trans-Omics for Precision Medicine program. We then examined whether significant genome-wide findings were also associated with clinical diagnosis of VWD in 5 biobanks with 708 VWD cases and 1 286 069 controls, and with 6 bleeding and thrombotic disorders in FinnGen. RESULTS: Variants at 2 loci were associated (P < 5 × 10-9) with VWF:Ag levels ≤ 50 IU/dL: ABO and VWF. The VWF index variant, p.Tyr1584Cys, is a rare (0.22%) missense variant with odds ratio (OR) of 78.58, while the ABO index variant is a common intronic variant with a smaller effect (OR = 2.52). Notably, both VWF (OR = 7.16) and ABO (OR = 1.57) variants were also associated (P < .025) with diagnosed VWD. Among p.Tyr1584Cys heterozygotes, the penetrance of VWF:Ag levels ≤ 50 IU/dL was 24.2% and the penetrance of diagnosed VWD was 0.3%. p.Tyr1584Cys was associated (P < .0042) with increased odds of heavy menstrual bleeding (OR = 1.27), iron deficiency anemia (OR = 1.55), and intrapartum hemorrhage (OR = 2.20), but decreased odds of deep vein thrombosis (OR = 0.54). CONCLUSIONS: Although there are currently conflicting interpretations of pathogenicity p.Tyr1584Cys, our results suggest that it is a low penetrance pathogenic variant that contributes to VWF:Ag levels ≤ 50 IU/dL, bleeding, and VWD.
We have investigated a new source of commercial Lewis and P1 soluble blood group substances produced for use in immunohematology. Our tests show them to be potent, specific, stable and suitable for use in antibody inhibition procedures. They should make a useful contribution to antibody identification studies in hospital blood bank laboratories.
The distribution of ABO and RH blood groups was studied in 910 fertile women from the Isles of Lewis and Harris. The frequencies of group O mothers fell and of RH-mothers rose with increasing parity, but there were no significant changes in the ABO and RH blood group distributions among their offspring when they were subdivided according to their mothers' parity. When mother-offspring pairs classified according to their ABO and RH compatibility status it was found that RH incompatibility was associated with greater number of previous pregnancies and of abortions. Regression coefficients of birth weight on maternal stature and maternal age were significant only for doubly compatible female offspring and on number of previous pregnancies only for doubly compatible offspring of both sexes. When offspring were classified according to their own and their mothers' ABO blood groups, considerable variations in sex ratio were found. However, the only statistically significant finding was a deficit of A females among the offspring of O mothers. It is suggested that for the ABO blood groups system incompatibility selection, which favours homozygotes rather than heterozygotes, can be counterbalanced by selection for greater maternal tolerance of incompatible offspring with increasing parity. Hence the loss of heterozygotes in lower parity mothers may be compensated by an increase production in higher parity mothers. For the Rh system the same mechanism may occur, but there is evidence additionally of reproductive compensation.
These data comprise 1,231,024 routine tests carried out over a 5-year period on voluntary blood donors. The percentage of positive results on the machines varies from 1 to 3% of the total number of samples tested. Antibodies identified either by manual or automated techniques make up 15--20% of the positive screening reactions. Rhesus, Luewis and P systems prevail, whilst Duffy, Kidd and Ltheran systems are absent. This screening has three main advantages: the supply of plasma for our production of test sera, or therapeutic immunoglobulins; protection of the recipient; partial information on the donor's immunohaematological state, especially for the risk of giving him incompatible blood sometimes in the future.
Lods of +3.89 at a recombination fraction (theta) of 0.10 and recombinant:nonrecombinant counts of 2:16 indicate linkage between the Rd and Rh blood group loci. The possibility that Rd is the same as Sc is discussed.
Phenotype distributions of some genetic polymorphisms are reported in a sample of 721 diabetics and 515 non-diabetic, non-blood donor controls. Reference is also made, in the case of the ABO and Rhesus systems, to previously published results for blood donors resident in the Durham area. Non-insulin-taking diabetics show an increased frequency of blood group A1 (and A1 + A2) when compared with controls. This difference is particularly marked in male diabetics. When diabetics are compared with age matched controls, the difference is confined to the older cases. It is proposed that this effect is predominantly the result of a deficiency of group A1 in controls rather than the result of increased susceptibility to the disease among A1 people. No association with any of the Rhesus phenotypes is shown. In non-diabetics, the results suggest an enhanced survival value for the rr genotype. No significant associations are seen when the MNSs, Kell, Lewis, Duffy, haptoglobin, red cell acid phosphatase, phosphoglucomutase, adenylate kinase, and adenosine deaminase distributions in these groups of subjects are compared.-
Ongoing linkage studies of red cell antigens and enzymes in many families along with concentration on a large Mennonite kindred segregating for Sc have resulted in lods, recombinant: nonrecombinant counts and multi-point information which support an order with approximate recombination fractions as measured in the male as follows: Fy--.25--PGM1--.20--Sc--less than .05--UMPK--.15--Rh--.20--PGD, with ENO1 close to PGD. The insertion of Sc and UMPK between PGM1 and Rh allows the recognition of double crossing-over between the latter pair; indications are that this is not a rare event in the female. In the male no evidence of double crossing-over was found in the similar distances PGM1--Rh and Sc--PGD in 13 and 19 opportunities respectively.
Absence of KX antigen and of normal expression of the Kell system antigens is associated with bizarre red blood cell morphology when observed by either light or scanning electron microscopy. Numerous acanthocytes and dacryocytes have been observed in the peripheral blood smear of an apparently healthy individual with McLeod-phenotype blood, in a male patient with type II chronic granulomatous disease who had a shortened 51Cr red blood cell survival time, and in a minor population of the red blood cells of his carrier mother.
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Purified blood group-active substances derived from different pig, horse, baboon, Rhesus monkey and human tissues were quantitatively studied for their haemagglutination inhibiting potency with: (1) human IgM anti-A and anti-B; (2) human anti-Lea and anti-Leb; (3) Ulex europaeus extracts separated into lectin fractions with respective L-fucose-inhibitable ('anti-HF') and chitobiose-cellobiose-inhibitable ('anti-HC') combining sites. Irrespective of species origin, A and B blood group activity per milligram of purified material tended to be strikingly higher in substances low in, or devoid of, Lewis blood group activity. Most of the blood group substances displayed variable but about equally balanced amounts of Ulex anti-HF and anti-HC inhibiting activity. In contrast, pig submaxillary gland mucins displayed strikingly high levels of Ulex anti-HC inihibiting activity, even in the complete absence of Ulex anti-HF inhibiting activity. These serological findings are consistent with current biochemical concepts regarding the heterosaccharide microheterogeneity of blood group-active glycoproteins.
Of 3533 Rh-negative women who began a pregnancy without detectable Rh antibodies, 62 (1.8%) demonstrated evidence of Rh isoimmunization during pregnancy or within 3 days after delivery. All denied transfusions as well as abortions or previous pregnancies not followed by the administration of Rh immune globulin. Rh isoimmunization during pregnancy or within 3 days after delivery, which will not be prevented by the administration of Rh immune globulin after delivery, is the most important cause of residual Rh isoimmunization. A clinical trial of antenatal administration of Rh immune globulin, initially at 34 weeks's and subsequently at 28 and 34 weeks' gestation, in 1357 Rh-negative pregnant women who were delivered of Rh-positive babies, was effective in preventing the development of Rh isoimmunization during pregnancy or within 3 days after delivery. Antenatal prophylaxis with Rh immune globulin will be necessary if the incidence of Rh isoimmunization is to be reduced to its lowest possible level. Antenatal prophylaxis at 28 weeks' gestation is now an insured service in Manitoba.