PubMed · 7546245
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J S Hunt. 1995. A cautionary note.. https://doi.org/10.1111/j.1600-0897.1995.tb00895.x
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Among Palestinian Arabs the rate of consanguinity is very high and some 44.3% of the marriages are between relatives (22.6% of them between first cousins). In almost 2,000 files from Palestinian Arab families who attended the genetics clinic in the Hadassah Medical Center; we were able to study the effects of consanguinity on different disorders. The consanguinity rate in families with dominant or X-linked disorders and chromosome aberrations was similar to the one observed in the general population. We did not find any significant differences in the rate of consanguineous marriages between the parents and grandparents of children affected with trisomy 21 and the general population. Thus, we were not able to confirm the suggestion that there is an increase risk for trisomies in children/grandchildren of consanguineous parents. Among the parents of patients with rare autosomal recessive disorders the consanguinity rate was much higher than the one of the general population (92.5%). Among the autosomal recessive disorders, which were relatively frequent in the population, there were fewer marriages between relatives; but in most cases the difference from rare disorders is relatively small. The importance of genetic factors in various congenital malformations, such as neural tube defects and cleft lip/palate or in various forms of infertility, was confirmed by the observation of a significantly higher consanguinity rate in the parents of these patients than is observed in the general population.
Therapeutic guidelines are progressively emerging for the antiphospholipid syndrome (APS). In the absence of associated systemic lupus erythematosus, i.e. in primary APS, the prevention of recurrent miscarriages is frequently achieved by a combination of heparin plus aspirin. To date, there is no agreement about the type and the dose of heparin to use. Steroids should not be proposed for the prevention of miscarriages in primary APS. Long term warfarin aimed at an International Normalized Ratio (INR) of 3-3.5 is effective for secondary prevention of thrombosis. However, the appropriateness of INR for warfarin monitoring has been recently questioned in the presence of a lupus anticoagulant. Education plays an important role in the management of patients with APS. Particularly, coincident risk factors for thrombosis have to be suppressed or controlled.
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