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

Persistent gross hematuria associated with sickle hemoglobinopathy that fails to respond to conventional supportive therapy represents a difficult management dilemma. Two such patients with protracted, often painful, sickle trait macrohematuria are described. Both patients had normal renal anatomy and vasculature and had failed to respond to bed rest, intravenous hydration, and a trial of oral epsilon-aminocaproic acid. Patient 1 had normal coagulation function. Patient 2 had von Willebrand disease (decreased factor VIII antigen and quantitative ristocetin cofactor activity). Patient 1 responded to intravenous desmopressin acetate at a dose of 0.3 microgram/kg with a 155% increase in factor VIII clotting activity and a 135% increase in ristocetin cofactor and cessation of her macrohematuria within 18 hours after completion of the desmopressin infusion. She remained free of gross hematuria for 5 months with the exception of short-lived trauma-induced hematuria (in three voids) 6 weeks after desmopressin therapy. Patient 2 did not respond to intravenous desmopressin infusion despite a 234% and a 360% increase in factor VIII clotting activity and ristocetin cofactor, respectively. Intravenous desmopressin acetate may be helpful in halting protracted significant macrohematuria associated with sickle trait hemoglobinopathy in some patients when conventional management fails.
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PMID:Intravenous desmopressin acetate in children with sickle trait and persistent macroscopic hematuria. 237 Oct 98

An immunologic and virologic work-up was undertaken in 425 symptom-free multitransfused patients with hemophilias or hemoglobinopathies living in France. Patients were entered into five groups according to the type of blood product they received: local factor VIII, a mixture of local and imported factor VIII, imported factor IX, local factor IX, washed red blood cells. The overall prevalence of IgG antibodies to the lymphadenopathy-associated virus (LAV) was 45%. The highest rate was observed in hemophiliacs who received factor VIII concentrates prepared from plasma collected mainly on the American continent; intermediary values were found for hemophilic patients treated with local factor VIII or factor IX concentrates; and the lowest values were found for those who were treated with washed red blood cells. Lymphadenopathy, decreased skin hypersensitivity reactions, relative lymphopenia, and altered ratio of T lymphocyte subsets occurred at significantly higher rates in patients positive for LAV antibody, although such abnormalities were also encountered in LAV serologically negative patients. A correlation between treatment intensity and immunologic disturbances was found in patients infused with factor VIII preparations, irrespective of their positive or negative LAV antibody status. This study has shown the prominent role of LAV in the occurrence of immunologic disturbances in multitransfused patients. However, allogenic or altered proteins present in factor VIII but not in factor IX concentrates seem to play a role of immunocompromising agents. The interplay between LAV and additional factors possibly leading to acquired immunodeficiency syndrome remains to be analyzed.
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PMID:Immunologic and virologic status of multitransfused patients: role of type and origin of blood products. By the AIDS-Hemophilia French Study Group. 299 80

Five patients with classic hemophilia were found to have primary pulmonary hypertension, a disorder not previously recognized in this population. All patients had had their coagulation disorder treated for 10 years or more with self-administered lyophilized concentrates of factor VIII, and all had antibodies to human immunodeficiency virus (HIV). Primary pulmonary hypertension was confirmed by histologic means at autopsy in one patient and by lung biopsy findings in another. In the other three patients, the findings are in agreement with this diagnosis. No patient had underlying cardiac or pulmonary disease, or clinical or pathologic evidence of collagen-vascular disease, vasculitis, parasitic disorders, hemoglobinopathy, or exposure to anorexigenic agents. Whether the primary pulmonary hypertension was related to treatment with lyophilized factor VIII, or to the presence of antibodies to HIV, or both, is unknown.
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PMID:Primary pulmonary hypertension in patients with classic hemophilia. 280 26

Prenatal diagnosis of hematologic diseases can now be performed with fetal blood, fetal amniotic fluid cell DNA, and fetal chorionic villi DNA. Some hemoglobinopathies can be detected by all three methods, and the choice will depend on the available obstetric and laboratory techniques, as well as the time of presentation of the pregnancy. Hopefully, further development of molecular probes and techniques will soon expand these options to all of the globin disorders. Detection of coagulation disorders in utero currently requires samples of pure fetal blood. Gene cloning is accomplished for some (factor IX and antithrombin III) and is underway for others (factor VIII), and further investigation is necessary to determine whether deficiencies in these gene products are due to gene deletion or to mutant genes linked to polymorphic restriction enzyme sites of diagnostic use. Thus, molecular biology may be applied to prenatal diagnosis of the clotting problems, but this has not yet been accomplished. Disorders affecting the number and/or function of erythrocytes, leukocytes, and platelets can be diagnosed by analysis of fetal blood. Blood samples will continue to be required until more is known about the molecular biology of hematopoiesis. Syndromes that can be diagnosed by chromosome studies should be revealed in cultures of amniotic fluid cells, fetal blood lymphocytes, and chorionic villi cells. Cultured cells can be examined for karyotypes, Y-chromatin, spontaneous or induced chromosome breakage, DNA repair, SCEs, and translocations. The techniques for culturing amniotic cells and fetal blood white cells are established, and those for growing cells from chorionic villi are improving rapidly. Direct preparations of cells from villi only may suffice for some of the above analyses. The study of hematologic disease in utero has thus come full circle, from the use of amniotic cells to determine the sex in X-linked disorders, to fetal blood sampling for the analysis of gene products, then back to amniocentesis for DNA, and now earlier in gestation to chorionic villi. All of this has occurred in less than ten years, and it is anticipated that developments in the next ten years will be equally dramatic. The future should bring all prenatal testing into the first trimester, use molecular probes, and provide for both early diagnosis and early treatment of genetic hematologic disease.
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PMID:Advances in the prenatal diagnosis of hematologic diseases. 637 72

Haemoglobinopathies represent a significant national health burden in India. The distribution of specific disorders varies geographically and by community. Heterozygote frequencies of beta-thalassaemia range from 1 to 15%, resulting in an estimated 20 million carriers. HbS is mainly present in tribal and non-caste communities, with carrier prevalences of up to 40%. By comparison, alpha-thalassaemia carriers are found in both the caste and tribal communities, and can reach a frequency of >90% in the latter case. Community control of haemoglobinopathies relies mainly on out-reach education programmes and genetic counselling, with antenatal diagnosis offered in specific major centres. Only partial data are available on the prevalence of haemophilia, but it has been estimated that there are some 50,000 affected individuals nationwide, with an additional 1,500 new cases born each year. RFLP-based techniques have been established to detect mutations in the factor VIII and IX genes, enabling the limited introduction of carrier detection and antenatal diagnosis.
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PMID:Genetic disorders in haematological practice in India. 1496 Aug 92