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Hemophilia, thalassemia, sickle cell

Megan M Sorich, Jeffery J Cherian, Mark J McElroy, Samik Banerjee, Lynne C Jones, Caterina P Minniti, Michael A Mont
Osteonecrosis of the hip can lead to advanced arthritis in typically young patients. Hematologic disorders comprise one group of potential causes. These include sickle cell anemia, hemophilia, aplastic anemia, thalassemia, and acute lymphoblastic leukemia. Depending on the stage of disease, treatment options include non-operative management, joint-preserving procedures (percutaneous drilling, core decompression, and vascularized or non-vascularized bone grafting), and joint arthroplasty (resurfacing arthroplasty and THA)...
2015: Journal of Long-term Effects of Medical Implants
Pratibha Dhiman, Rahul Chaudhary, Krishna Sudha
No abstract text is available yet for this article.
December 2015: Blood Research
Christopher S Parker, James Tsai, Azfar-e-Alam Siddiqi, Hani K Atrash, Lisa C Richardson
In its decades-long history, the Division of Blood Disorders (DBD) at CDC has evolved from a patient-focused, services-supporting entity at inception, to one of the world leaders in the practice of public health to improve the lives of people at risk for or affected by nonmalignant blood disorders. The DBD's earliest public health activities consisted of working with care providers in a network of hemophilia treatment centers to provide AIDS risk reduction services to people with hemophilia. Because this infectious disease threat has been reduced over time as a result of the development of safer treatment products, the DBD--under the auspices of congressional appropriations guidance--has expanded its core activities to encompass blood disorders other than hemophilia, including hemoglobinopathies such as thalassemia and sickle cell disease, and Diamond Blackfan anemia...
November 2014: American Journal of Preventive Medicine
Gia L Tyson, Jennifer R Kramer, Zhigang Duan, Jessica A Davila, Peter A Richardson, Hashem B El-Serag
UNLABELLED: There are sparse epidemiologic data on coinfection of hepatitis B (HBV) and hepatitis C (HCV) in the United States. Therefore, the aim of this study was to determine the prevalence and predictors of HBV coinfection in a large U.S. population of HCV patients. We used the National Veterans Affairs HCV Clinical Case Registry to identify patients tested for HCV during 1997-2005. Patients were categorized based on HCV exposure (any two +HCV tests or one test with a diagnostic code), HCV infection (+RNA or genotype), HBV exposure (any +HBV test, excluding +HBsAb only), and HBV infection (+HBsAg, HBV DNA, or HBeAg)...
August 2013: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Olga Gurevitch, Shimon Slavin
In this article we present a new working hypothesis, suggesting that overexertion of the hematopoietic system resulting from constant excessive need for blood cell production, plays an important role in the etiology of osteoporosis. It is generally accepted that the development of osteoporosis in postmenopausal women is due to the reduction of estrogen level. However a most striking observation is the fact that in the male organism, which has never been protected by high levels of estrogen, osteoporosis in senescence is significantly less frequent then in the female organism, which has been protected by estrogens for at least 35 years...
2006: Medical Hypotheses
Mauricio Beltrân, Maria-Cristina Navas, Fernando De la Hoz, Maria Mercedes Muñoz, Sergio Jaramillo, Cecilia Estrada, Lucia Del Pilar Cortés, Maria Patricia Arbelâez, Jorge Donado, Gloria Barco, Martha Luna, Gustavo Adolfo Uribe, Amalia de Maldonado, Juan Carlos Restrepo, Gonzalo Correa, Paula Borda, Gloria Rey, Marlen de Neira, Angela Estrada, Sandra Yepes, Oscar Beltrân, Javier Pacheco, Iván Villegas, Jorge Boshell
BACKGROUND: Hepatitis C Virus (HCV) infection is a public health problem worldwide, with particular relevance in multi-transfused patients given that HCV is principally transmitted by exposure to infected blood. STUDY DESIGN: Between February and September 2003 a cross-sectional study was carried out in four hospital centres in Bogotá and Medellin, Colombia, to determine the risk factors for HCV infection in 500 multi-transfused patients. RESULTS: The study population was distributed in five groups: haemophilia, haemodyalsis, acute bleeding, ontological illnesses and sickle cell disease or thalassemia...
December 2005: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
Mohsen A F El-Hazmi
The genetic disorders are chronic in nature and, therefore, require continuous support and health care. Consequently, the genetic diseases cause formidable economic and psychosocial burdens on the family with negative reflection on the community at large. The genetic diseases are a heterogeneous group that result in varieties of chronic health ailment as a result of defects in the genetic material. The congenital malformations and some genetic defects may result from exposure to radiation, pharmaceutical drugs, the exposure of the mother during pregnancy to certain infectious diseases, such as rubella, toxoplasma or viruses...
November 2004: Saudi Medical Journal
Roland W Herzog, Volder R Arruda
The past 3 years have been characterized by a number of impressive advances as well as setbacks in gene therapy for genetic disease. Children with X-linked severe combined immunodeficiency disorder (SCID-X1) have shown almost complete reconstitution of their immune system after receiving retrovirally transduced autologous CD34+ hematopoietic stem cells (HSCs). However, two of 11 treated patients subsequently developed a leukemia-like disease probablydue to the undesired activation of an oncogene. Gene transfer to HSCs resulted in substantial correction of immune function and multi-lineage engraftment in two patients with adenosine deaminase (ADA)-SCID...
July 2003: Expert Review of Cardiovascular Therapy
R W Herzog, J N Hagstrom
The year 2000 saw the first successful treatment of a genetic disorder by gene therapy. Pediatric patients with X-linked severe combined immunodeficiency disorder (SCID-X1) received autologous CD34+ hematopoietic cells following ex vivo gene transfer using a retroviral vector, with subsequent demonstration of improved immune responses. A number of preclinical and clinical studies have been conducted with the aim of developing gene therapy for hemophilia, Fanconi anemia, sickle cell disease, beta-thalassemia, chronic granulomatous disease, and other inherited hematological disorders...
2001: American Journal of Pharmacogenomics: Genomics-related Research in Drug Development and Clinical Practice
Y Verlinsky, S Rechitsky, O Verlinsky, V Ivachnenko, A Lifchez, B Kaplan, J Moise, J Valle, A Borkowski, J Nefedova, E Goltsman, C Strom, A Kuliev
Preventive measures for single-gene disorders are currently based on carrier screening in pregnancy and prenatal diagnosis. Although this has been extremely effective for preventing new cases of common inherited conditions, the major limitation is still termination of 25% of wanted pregnancies following detection of affected fetuses. To overcome this important problem, we developed a method for prepregnancy genetic testing that involves DNA analysis of the first and second polar bodies, which are extruded during maturation and fertilization of oocytes...
1999: Genetic Testing
G M Mody, B Cassim
The rheumatologic manifestations of hemophilia and the hemoglobinopathies have been previously reviewed. Recent observations on the management and complications of these disorders are presented. Although rheumatologic manifestations are well recognized in leukemias and lymphomas, most of the observations have been based on small series of patients and case reports. This review focuses on leukemias and lymphomas, and brief reference is made to the myelodysplastic syndromes.
January 1996: Current Opinion in Rheumatology
P N Scutellari, C Orzincolo, F Franceschini
Radiography of the hand often reflects the picture of generalized diseases, affecting both the muscolo-skeletal system and the others. Some of the most common hematologic disorders may be detected in roentgenograms of the hand, especially in the anemias, but also in plasma cell dyscrasias and proliferative malignant diseases (i.e., lymphomas and leukemias). On the basis of their experience, the authors have reviewed and discussed the radiographic "pattern" of the hand in several hematologic conditions (i.e...
October 1993: Minerva Medica
H M Bastian
A review of the literature on rheumatologic manifestations in hematologic disease supports the idea that magnetic resonance imaging is useful in the identification of tissue patterns suggestive of vasoocclusion and myonecrosis in sickle-cell anemia and in diagnosing significant synovial hypertrophy in hemophilia. With reference to treatment, the use of yttrium-90 silicate and P-32 colloid for radiosynovectomy in patients with hemophilic arthropathy and the latest results of total joint replacement surgery in sickle-cell anemia and hemophilia patients are discussed...
January 1995: Current Opinion in Rheumatology
E L Hopkins, J Carey, R Moye
Amniocentesis and fetoscopy are two of several modalities used to offer information during the prenatal period of the status of the fetus. Amniocentesis is most frequently used and with continuing research is becoming an invaluable aid to prenatal diagnosis. With the recent studies of DNA characteristics of globin chains of cells obtained at amniocentesis, the need to obtain blood directly from fetal vessels to diagnose major hemoglobinopathies prenatally is rapidly diminishing. Open neural tube defects are diagnosable with alpha feto protein analysis...
1982: Progress in Clinical and Biological Research
A Mattsson, S P Kim
No abstract text is available yet for this article.
August 1982: Psychiatric Clinics of North America
D A Isenberg, Y Shoenfeld
No abstract text is available yet for this article.
May 1983: Seminars in Arthritis and Rheumatism
G R DeVore, M J Mahoney, J C Hobbins
No abstract text is available yet for this article.
April 1980: Clinics in Obstetrics and Gynaecology
N D'Eramo, M Safier
No abstract text is available yet for this article.
October 1974: Recenti Progressi in Medicina
J Jason, M Hilgartner, R C Holman, G Dixon, T J Spira, L Aledort, B Evatt
Persons with hemophilia are at risk of the acquired immunodeficiency syndrome (AIDS), and clinically asymptomatic hemophiliacs have shown a high incidence of AIDS-like immune abnormalities, facts leading to speculation that many hemophiliacs have been exposed to the AIDS agent through their blood products. We therefore evaluated the immune status of three groups of blood product recipients without AIDS in New York City, including 47 persons with hemophilia A receiving factor VIII concentrate, 50 persons with homozygous beta-thalassemia, and 27 persons with sickle cell anemia receiving frozen-packed RBCs and 20 healthy persons who had not received a transfusion...
February 22, 1985: JAMA: the Journal of the American Medical Association
S C Kogan, M Doherty, J Gitschier
We report the development of a rapid nonradioactive technique for the genetic prediction of human disease and its diagnostic application to hemophilia A. This method is based on enzymatic amplification of short segments of human genes associated with inherited disorders. A novel feature of the procedure is the use of a heat-stable DNA polymerase, which allows the repeated rounds of DNA synthesis to proceed at 63 degrees C. The high sequence specificity of the amplification reaction at this elevated temperature permits restriction-site polymorphisms, contained in the amplified samples, to be analyzed by visual inspection of their digestion products on polyacrylamide gels...
October 15, 1987: New England Journal of Medicine
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