deamino-arginine-vasopressin and Chromosome-Inversion

Approximately 50% of female carriers of hemophilia A have factor VIII (FVIII) levels below 0.5 IU/dL and may be categorized as having mild hemophilia. Females with hemophilia may go undiagnosed for years because the most common symptoms - menorrhagia and bleeding after childbirth - also occur in females without hemophilia. Females with hemophilia can exhibit increased bleeding tendencies despite current guidelines of expected, adequate FVIII levels. The cases described illustrate the clinical variability and presentation of hemophilia in females and highlight the importance of a timely diagnosis, effective management, and monitoring. Prophylactic factor replacement therapy is recommended in females with hemophilia, particularly those with joint disease or gynecologic complications. Affected individuals should receive infusion training and education on treatment options, physical activities, the importance of treatment adherence, and recognizing bleeding symptoms warranting treatment. Further study is needed to increase awareness of hemophilia in females and reassess current guidelines for their management and monitoring.

Topics: Adolescent; Aged; Chromosome Inversion; Deamino Arginine Vasopressin; Disease Management; Drug Substitution; Factor VIII; Female; Hemarthrosis; Hemophilia A; Heterozygote; Humans; Introns; Male; Menorrhagia; Middle Aged; Pedigree; Recombinant Proteins; Tranexamic Acid; Young Adult

We describe three cases of acute myeloid leukaemia revealed by diabetes insipidus. The patients were 42, 38 and 39 yr old and they had marked hyperleukocytosis, circulating immature granular cells and a normal or elevated platelet count. The leukaemia was type AML-M2 according to the FAB classification. Cytogenetic studies showed inversion of chromosome 3 (q21;q26) in 2 cases and a translocation (3;3)(q21;q29?) in the remaining case, both associated with monosomy 7. All the cerebral CT scans were normal. Complete remission was never achieved, and all three patients survived less than 14 months. Desmopressin therapy was active but treatment could not be reduced. The association of dysmegakaryopoiesis with a chromosome 3 abnormality and diabetes insipidus is probably not fortuitous and could represent a new entity.

Topics: Adult; Chromosome Aberrations; Chromosome Inversion; Chromosomes, Human, Pair 3; Chromosomes, Human, Pair 7; Deamino Arginine Vasopressin; Diabetes Insipidus; Fatal Outcome; Female; Humans; Leukemia, Myeloid, Acute; Leukocytosis; Male; Monosomy; Platelet Count; Thrombocytosis; Translocation, Genetic