sodium-ethylxanthate and Hemophilia-A

Severe manifestations of X-linked recessive disorders such as haemophilia A (HA) are rare in females. Here we describe the clinical and genetic findings in five female HA patients from two different Spanish families. Three sisters born to consanguineous parents presented moderate bleeding due to a known mutation (p.Ser1791Pro) detected in a homozygous state. In the second family, two sisters with Morris syndrome (46,XY) and mild/moderate illness were hemizygous for a novel missense mutation, p.Phe2127Ser. The mutation is predicted to impair binding to the factor VIII (FVIII) carrier protein, von Willebrand factor, and thus increased clearance of FVIII from plasma. Clinical and molecular characterisation of these patients is essential to optimise follow-up, genetic counselling and treatment of the disease.

Topics: Adolescent; Androgen-Insensitivity Syndrome; Child; Chromosomes, Human, X; Consanguinity; DNA Mutational Analysis; Factor VIII; Female; Hemarthrosis; Hemophilia A; Humans; Male; Mutation, Missense; Phenylalanine; Serine; Sex; Siblings; Spain; Young Adult

A 37-year-old female patient reported marked weight loss, prolonged alopecia, recurrent infections and watery diarrhoea. Examination revealed Salmonella infection, candidiasis and immunological signs of previous toxoplasmosis. Between 1978 and 1981, the patient had had close sexual relations to a patient with haemophilia A. Due to this fact, AIDS was suspected. Serological tests for HIV were not available at the time. The findings in DNA image cytometry (nuclear DNA inclusion bodies, polyploid lymphocyte nuclei and binuclear lymphocytes) suggested a viral infection of the lymphoid cells. Electron microscopy revealed in hepatocytes and cerebral cells intranuclear inclusion bodies whose size and contents were not compatible with an infection caused by cytomegalovirus, herpes virus or Epstein-Barr virus. In autopsy, infections of various organ systems such as pneumonia, tracheobronchitis, urocystitis, pyelonephritis, Candida oesophagitis and enteritis were found.

Topics: Acquired Immunodeficiency Syndrome; Adult; DNA; Female; Flow Cytometry; Hemophilia A; Humans; Inclusion Bodies, Viral; Opportunistic Infections; Sex

Acquired immunodeficiency syndrome (AIDS) and AIDS-related complex (ARC) are thought to be caused by human T-cell leukemia/lymphotropic virus type III (HTLV-III). Since the fall of 1982, independent isolates of HTLV-III have been obtained in this laboratory, in collaboration with several clinical groups, from 101 AIDS and ARC patients and healthy donors at risk for AIDS. Most isolates were from peripheral blood T lymphocytes established in cell culture, but some were obtained from bone marrow, lymph node, brain tissue, and cell-free plasma and from cells associated with saliva, cerebrospinal fluid, and semen. Virus was isolated from approximately 50% of AIDS patients, 85% of ARC patients, and 30% of healthy individuals at risk for AIDS. The risk groups included homosexuals, promiscuous heterosexuals, i.v. drug users, recipients of blood or blood products, and spouses and offspring of AIDS patients and others at risk for AIDS. A high correlation was seen between persistent levels of serum antibody and the ability to isolate virus from patient or donor leukocytes. Immunologic and nucleic acid analysis demonstrated that the virus isolates were highly related, although substantial diversity was observed in the restriction enzyme cleavage patterns of those studied in detail. Biological analysis of cells from infected patients and donors as well as from normal peripheral blood mononuclear cells exposed to virus in vitro demonstrated that OKT4/Leu3a+ (helper/inducer) lymphocytes were preferentially infected and were subjected to a characteristic cytopathic effect. The availability of multiple isolates of virus from a number of different patients and donors will greatly facilitate the characterization of HTLV-III and the study of possible biological and/or biochemical variants of the virus responsible for the development of AIDS, ARC, and related diseases.

Topics: Acquired Immunodeficiency Syndrome; Carrier State; Child; Deltaretrovirus; Female; Hemophilia A; Homosexuality; Humans; Male; Marriage; Retroviridae Infections; Risk; Sex; Sex Work; Transfusion Reaction

Topics: Adolescent; Aminocaproates; Aminocaproic Acid; Cellulose; Drug Therapy; Female; Hemophilia A; Hemostasis; Hemostatics; Humans; Radiography, Dental; Sex; Thrombin; Tooth Extraction

Topics: ABO Blood-Group System; Biomedical Research; Blood Group Antigens; Factor VIII; Hemophilia A; Humans; Rh-Hr Blood-Group System; Sex

Topics: Coombs Test; Factor VIII; Female; Genetics, Medical; Hemophilia A; Humans; Maternal-Fetal Exchange; Medicine; Pregnancy; Sex; Sex Chromosome Disorders

Topics: Child; Clinical Laboratory Techniques; Female; Globulins; Hemophilia A; Humans; Laboratories; Medicine; Sex; Sex Chromosome Disorders

Topics: Angiomatosis; Chromosome Aberrations; Chromosome Disorders; Color Vision Defects; Glucosephosphate Dehydrogenase Deficiency; Glucosephosphates; Hemophilia A; Humans; Sex; X Chromosome

Topics: Animals; Dog Diseases; Dogs; Factor VIII; Female; Genetics; Hemophilia A; Heterozygote; Humans; Research; Sex; Thromboplastin

Topics: Blood; Factor VIII; Genetics, Medical; Hemophilia A; Medicine; Mothers; Sex; Statistics as Topic

Topics: Adolescent; Factor VIII; Female; Genetics, Medical; Globulins; Hemophilia A; Humans; Medicine; Sex; Sex Chromosome Disorders; Women

Topics: Chromosomes; Hemophilia A; Humans; Mutation Rate; Sex; Sex Characteristics