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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To determine the influence of hemoglobinopathy on growth and development, we examined the height, weight, and sexual maturation of 2115 patients 2 to 25 years old who had homozygous sickle-cell disease (SS), SC disease (SC), sickle beta+ thalassemia (S beta+), or sickle beta O thalassemia (S beta O). Using regression analysis of these cross-sectional data to generate growth and maturation curves for each hemoglobinopathy, we found that the curves for all hemoglobinopathy groups were significantly different from published norms for black subjects (P less than 0.001), and that subjects with SS and S beta O were consistently smaller and less sexually developed than those with SC and S beta+ (P less than 0.001). For both sexes and all hemoglobinopathies, low weight was more pronounced than short height and was most apparent in subjects over the age of seven. The median age of the female subjects who had attained at least Tanner Stage V was 17.3 years for those with SS, 17.2 years for S beta O, 16.0 years for SC, and 16.5 years for S beta+; among male subjects the corresponding values were 17.6, 18.8, 16.6, and 16.6 years. Discriminant analysis of menarche status, weight, age, and hemoglobinopathy revealed that the influences of age and weight on menarche were similar regardless of hemoglobinopathy. This relationship suggests a constitutional rather than a primary endocrinologic cause of sexual immaturity in patients with hemoglobinopathies.
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PMID:Influence of sickle hemoglobinopathies on growth and development. 672 78

The therapeutic field of in utero transplantation of stem cells, into human fetuses, has developed since 1988 with the hope of improved probability of engraftment and tolerance, due to immune immaturity of the host. Fifteen years later, it is possible to evaluate the results that we and others have obtained in the treatment of several fetal diseases. Seven fetal patients have been treated in Lyon: In 2 cases, pregnancy termination was induced by the in utero injection; in the 5 other cases, engraftment was obtained and repeatedly documented with presence of donor HLA antigens and/or Y chromosome in recipients. In the 2 patients with combined immunodeficiency disease, a sustained reconstitution of immunity was obtained as a result of the transplant but other complications occurred thereafter. In patients with thalassemia major, Niemann-Pick disease or hemophilia, a very partial and very transitory benefit was only obtained. Approximately 33 other patients with immunodeficiencies, hemoglobinopathies or inborn errors of metabolism have been treated worldwide, over the last 13 years, with a comparable method, using parental or fetal stem cells transplanted in utero. Successful treatment has usually been recorded in immunodeficiencies, and insufficient results have been obtained in the other cases. This form of treatment can therefore be recommended after prenatal diagnosis of combined immunodeficiency but additional research is required to improve the degree of engraftment, the lack of resistance of the host and the 'space' available for hematopoiesis in the other conditions.
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PMID:Reappraisal of in utero stem cell transplantation based on long-term results. 1519 88