Biomedical subjects
Publications and source records attributed to C Levene.
An alloantibody is described which detects a high frequency blood group antigen absent from Ko cells but different from all the reported Kell and para-Kell antigens. The family study shows the antigen to be inherited but gives no information about its relationship to the Kell locus. It is suggested that this 'new' para-Kell antigen be called K22.
Iranian Jews represent a very ancient Jewish community with a high frequency of inbreeding. A sample of Iranian Jews, mainly unrelated students, was tested for genetic markers of red blood cells and serum. The frequency of glucose-6-phosphate dehydrogenase deficiency was not uniform among Jews who had lived in different areas of Iran; it was lower among those from central Iran (6.7%) than in those from southern and western Iran (16.7% and 20.6%, respectively). The frequencies of B, CDe, cDE, S, and K alleles were among the highest recorded in Jewish ethnic groups. Iranian Jews were similar to Iraqi Jews with respect to the frequencies of the blood markers B, CDe, cde, cDe, ACP, PGM1, ADA, and Hp; however, the B and CDe markers occur with similar frequencies among indigenous Iranians. The presence of the cDe allele and the Gm1,5,13,14,17 haplotype in low frequencies indicates black admixture. Mongoloid admixture is indicated by the polymorphism of the Gm1,13,15,16,17 haplotype. The very rare phenotype Gm(3,5,13,14,17) was observed in 4.8% of 167 individuals tested. This phenotype has not been previously observed among Jews.
The association between insulin dependent diabetes mellitus (IDDM) and the HLA system was studied in two groups of Jewish patients: 50 Ashkenazim and 42 non-Ashkenazim. The pattern of association of HLA-A and B locus antigens was somewhat different from that observed in European Caucasian patients. HLA-B8 had a higher frequency; B15 and Cw3 were rare in the population studied and were less frequent in IDDM patients than in controls. On the other hand, the frequency of A26, B18, and Bw38 was increased in Ashkenazi patients, but not in non-Ashkenazim, who in turn showed an increase for Bw51. Although the association between IDDM and HLA-A and B locus antigens shows a marked variability in different populations, the association with HLA-DR3 and DR4 is constant feature. There was a typical excess of DR3/DR4 heterozygotes in both patient groups. This heterozygote type carries the highest relative risk, followed by DR4/DR4 homozygotes. These data can well be interpreted by a model of two different HLA-linked susceptibility genes, one associated with DR3 and the other one with DR4, that interact so that different genotypes are associated with different levels of penetrance. This model received further support from studies in 15 multiple case families where there is an excess of affected sib pairs sharing two DR antigens.
HLA phenotypes were studied in nine Jewish families, originating from Iran, with 18 individuals affected with a selective aldosterone biosynthetic defect and 12 healthy siblings. This disorder is inherited through an autosomal recessive gene and parents were consanguineously related in eight out of nine sibships. Family analysis showed that 18 affected individuals carried 20 different haplotypes and only two patients were homozygous for a haplotype. Yet a peak lod score of 1.128 was obtained for the recombinant fraction of 0.05 and thus linkage to HLA cannot be ruled out.
The association between HLA and coeliac disease (CD) was studied in the Jewish population of Israel. A total of 112 patients were typed for HLA-A,B,C antigens, including 67 patients whose families were typed in order to deduce the genotypes. Forty-seven patients were typed for HLA-DR antigens. The HLA-A,B,C data show a pattern of association, which is similar to that found in European CD patients: HLA-B8 is increased, although to a lower degree; a suggestive, insignificant increase for Aw30, B13 and Cw6 and a decrease of Bw35 were noted. The DR antigens DR3 and DR7 are associated with CD in the Jewish population. An excess of DR3/DR7 heterozygotes was noted. The data from family and population studies support a model in which two different HLA-DR associated genes are interacting.
The period in which Jews were first associated with Cochin and the Malabar coast was by tradition, after the destruction of the First Temple (586 BCE). Yet, the earliest evidence of Jewish settlements is from the tenth century CE. The largest group of Cochin Jews are the "Black Jews," of whom about 4,000 live in Israel. A high frequency of consanguineous marriages prevailed among Cochin Jews. Their mean height and weight were low when they came to Israel in 1954; an increase in both was observed 20 years later. Some of the allele frequencies of blood groups, isoenzymes, and HLA antigens were similar to those in other Jewish communities. In the high O, M, cde, and HLA-A28 and the low cDE allele frequencies Cochin Jews resembled Yemenite Jews. A few allele frequencies, the high Fya, AK2 and the low Jka and Hp1, were similar to those observed in indigenous southern Indian populations. In most HLA antigen and haplotype frequencies the Cochin Jews showed a distribution similar to that observed in other Jews and Caucasoids. No comparable HLA data on southern Indian populations were available. The results indicate that Cochin Jews have similarities with Jews, in particular Yemenite Jews, and with the indigenous populations of southern India.
Serum samples from 223 Jews from Cochin, India were tested for Gm(1,2,3,5,6,13,14,17,21,26) and for Inv(1). Certain samples were also tested for Gm(15) and Gm(16). The Cochin Jews are polymorphic for: 1) Gm3, a haplotype that does not lead to the formation of gamma 3, as was shown by tests of the serum of a homozygote, and 2) Gm1,17,21, a haplotype lacking Gm(26), which is ordinarily present in this haplotype. The Gm data indicate considerable admixture with southern Indians. There is no evidence for African admixture, such as has been found for all other Jewish populations studied thus far. The Inv data are similar to those for other Jewish populations.
The application of autologous and frozen red blood cell (RBC) programs is described for 3 pregnant women with antibodies to high-incidence blood group antigens (anti-Lutheranb, anti-Cellano, anti-Vel). The cases illustrate how readily available supplies or rare blood types can be maintained throughout pregnancy using autologous and frozen RBC techniques, including selective predeposit, "family-sharing," and intensive phlebotomy with fluid replacement. The RBC phenotypes described in this paper are exceedingly rare since they occur in only 0.1-0.001% of random donors. However, the principles of autologous blood transfusions are universal and they can be applied to the general problems of blood group incompatibility in pregnancy.
Three siblings of a Kurdish Jewish family with clinical and hematologic findings compatible with congenital dyserythropoietic anemia (CDA) are described. All patients presented with mild anemia, marked hyperbilirubinemia and splenomegaly. The bone marrow morphology and ultrastructure of the normoblasts was typical of CDA type II and there was strong agglutination of the patients' red blood cells by anti-i serum. These patients displayed two features that were not characteristic of CDA type II, namely, the acidified serum lysis test was negative on more than 10 occasions, and high levels of Hb A2 were observed in two siblings. In one of the siblings, abnormal globin-chain synthesis was found and alpha-chain production exceeded beta-chain production, as in beta-thalassemia minor. In the light of the above findings, our patients are perhaps best classified as having aberrant CDA with features of thalassemia.
Blood group phenotypes of anthropologic significance are described for inhabitants of two Israeli Arab communities with foci of hemoglobin S (HbS). The presence of Fy(a-b-), Rho, hrV+, and Js(a+) among the Hulah Valley Bedouin, and of Fy(a-b-), Rho, and hrV+ in Acre are indicative of genetic admixture of African origin. These non-African foci of HbS are thereby distinguished from previously described HbS foci in India, Greece, and Turkey where low or absent Rho phenotypes imply secondary dispersions of the HbS gene from the Arabian peninsula.
Blood group incompatibility as a cause of early or habitual abortion has been a matter of much debate. However, the abortion rate in such cases is much higher than that found in the general population. Two sisters having the rare genotype pp and anti-PP1Pk (anti-Tja) in their serum were reported as having habitual abortions; a third sister, with a normal P group, had a normal obstetric history. The relationship of anti-PP1Pk (anti-Tja) to the high rate of habitual abortion was discussed and added support was given to the existing evidence that certain maternal blood group antibodies can affect embryos early in uterine life.
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