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Hemophilia A

Q: What is Hemophilia A?

Hemophilia A is a genetic disorder characterized by a deficiency or abnormality of the blood coagulation factor VIII, leading to prolonged clotting time and increased bleeding risk. It is a serious condition that requires careful management and treatment.

Q: What are the main symptoms of Hemophilia A?

The primary symptom of Hemophilia A is prolonged bleeding, even from minor cuts or injuries. Individuals with Hemophilia A may experience spontaneous bleeding into joints, muscles, or other internal tissues, which can lead to pain, swelling, and long-term joint damage if not properly treated.

Hemophilia A: A genetic disorder characterized by a deficiency or abnormality of the blood coagulation factor VIII, leading to prolonged clotting time and increased bleeding risk.
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Most cited protocols related to «Hemophilia A»

Genetic Diversity Analysis of Hepatitis C

Subjects in this study were participants in one of 6 studies: (i) AIDS Link to Intravenous experience (ALIVE)^{21 (link)} (N = 281); (ii) Multicenter Hemophilia Cohort Study (MHCS)^{22 (link)} (N = 305); (iii) Hemophilia Growth and Development Study (HGDS)^{23 (link)} (N = 106); (iv) Correlates of Resolved Versus Low Level Viremic Hepatitis C Infection in Blood Donors study (REVELL) (N = 85); (v) an HCV clinic cohort in Portland, Oregon (N = 51); (vi) a cohort of injection drug users from the UK (N = 180) (see Methods for details). Fifty one worldwide populations (N = 2371) from the ALlele FREquency Database (ALFRED)^{24 (link)}, were also genotyped in this study. Details of sampling and ethnographic information for these populations can be found at http://alfred.med.yale.edu/. All populations were in Hardy-Weinberg equilibrium with the exception of one, the Finnish sample (n = 33, p = 0.05). Genotyping was performed using the ABI TaqMan allelic discrimination kit and the ABI7900HT Sequence Detection System (Applied Biosystems, Foster City, CA). SAS 9.1 (SAS Institute) was used for statistical analyses.

Thomas D.L., Thio C.L., Martin M.P., Qi Y., Ge D., O’hUigin C., Kidd J., Kidd K., Khakoo S.I., Alexander G., Goedert J.J., Kirk G.D., Donfield S.M., Rosen H.R., Tobler L.H., Busch M.P., McHutchison J.G., Goldstein D.B, & Carrington M. (2009). Genetic variation in IL28B and spontaneous clearance of hepatitis C virus. Nature, 461(7265), 798-801.

Publication 2009

Acquired Immunodeficiency Syndrome Alleles Discrimination, Psychology Donor, Blood Drug Abuser Hemophilia A Population Group Viremia

Comprehensive Immune Profiling Post-Myocardial Infarction

Mice were killed 3 h and on days 1–5, 7, and 16 after myocardial infarction (n = 3–10 mice per time point). Peripheral blood was drawn via cardiac puncture with citrate solution (100 mM Na-citrate, 130 mM glucose, pH 6.5), as anti-coagulant and mononuclear cells were purified by density centrifugation (43 (link)). Total blood leukocyte numbers were determined using acetic acid lysis solution (3% HEMA 3 Solution II, 94% ddH₂O, and 3% glacial acetic acid). Spleens were removed, triturated in HBSS (Mediatech, Inc.) at 4°C with the end of a 3-ml syringe, and filtered through nylon mesh (BD Biosciences). The cell suspension was centrifuged at 300 g for 10 min at 4°C. Red blood cells were lysed with ACK lysis buffer, and the splenocytes were washed with HBSS and resuspended in HBSS supplemented with 0.2% (wt/vol) BSA and 1% (wt/vol) FCS. Infarct tissue and healthy hearts were harvested, minced with fine scissors, and placed into a cocktail of collagenase I, collagenase XI, DNase I, and hyaluronidase (Sigma-Aldrich) and shaken at 37°C for 1 h, as previously described (54 (link)). Cells were then triturated through nylon mesh and centrifuged (15 min, 500 g, 4°C). Total spleen and cardiac cell numbers were determined with Trypan blue (Mediatech, Inc.). The resulting single-cell suspensions were washed with HBSS supplemented with 0.2% (wt/vol) BSA and 1% (wt/vol) FCS. For morphologic characterizations, sorted cells were spun, resuspended in PBS, and prepared on slides by cytocentrifugation (Shandon, Inc.) at 10 g for 2 min, and stained with HEMA-3 (Thermo Fischer Scientific).

Nahrendorf M., Swirski F.K., Aikawa E., Stangenberg L., Wurdinger T., Figueiredo J.L., Libby P., Weissleder R, & Pittet M.J. (2007). The healing myocardium sequentially mobilizes two monocyte subsets with divergent and complementary functions. The Journal of Experimental Medicine, 204(12), 3037-3047.

Publication 2007

Acetic Acid BLOOD Buffers Cells Centrifugation Citrates Coagulants Collagenase Collagenase, Clostridium histolyticum Deoxyribonuclease I Erythrocytes Glucose Heart Hemoglobin, Sickle Hemophilia A Hyaluronidase Infarction Leukocyte Count Mus Myocardial Infarction Nylons Punctures Spleen Syringes Tissues Trypan Blue

AHS Cohort Recruitment for BEEA Study

Male private applicators (nearly all farmers) are being recruited for the BEEA study from among participants in the AHS. The design of the AHS cohort was previously described in detail (Alavanja et al, 1996 ). Briefly, individuals were recruited and completed an enrollment questionnaire between December 1993 and December 1997 while attending certification sessions for licenses to apply restricted use pesticides. The AHS enrollment (Phase 1) questionnaires solicited information regarding use of specific pesticides, crops grown and livestock raised, other activities on the farm such as repairing equipment, welding, and painting, use of personal protective equipment, personal history of medical conditions, family history of cancer, health-related behaviors including smoking and alcohol consumption, height and weight, and demographic characteristics. Additional follow-up questionnaires were administered in Phase 2 (1998–2003) and Phase 3 (2005–2010) that collected information regarding exposures and health conditions since enrollment. These questionnaires are available online (http://aghealth.nih.gov).
Male farmers in the AHS are eligible to participate in BEEA if they (1) are over 50 years of age; (2) have never been diagnosed with cancer (other than non-melanoma skin cancer); (3) completed the questionnaires administered during Phases 1–3 of the study; (4) still reside in Iowa or North Carolina; and (5) do not have a blood clotting disorder such as hemophilia. On an approximately annual basis, potentially eligible participants are identified and selected for the recruitment list based on current age, cancer history as of the most recent linkages with the Iowa and North Carolina state cancer registries, and vital status as ascertained from the state mortality registries and the National Death Index. Recruitment for BEEA is ongoing throughout the calendar year. Potentially eligible participants are contacted by mail and by phone to verify eligibility, assess willingness to participate, and schedule a phlebotomist visit to the participant’s home. Prior to the home visit, the participant receives another mailing with the consent form, instructions about preparing for the interview, and a kit for collection of a first morning void urine sample on the day of the home visit. Enrollment of participants in BEEA began in June 2010. Although enrollment proceeded more rapidly in Iowa than North Carolina, plans for future recruitment are to enroll a higher proportion of participants from North Carolina up to approximately one-third of the total enrollment in BEEA to reflect the overall distribution of the AHS cohort.

Hofmann J.N., Beane Freeman L.E., Lynch C.F., Andreotti G., Thomas K.W., Sandler D.P., Savage S.A, & Alavanja M.C. (2015). The Biomarkers of Exposure and Effect in Agriculture (BEEA) Study: Rationale, design, methods, and participant characteristics. Journal of toxicology and environmental health. Part A, 78(21-22), 1338-1347.

Publication 2015

Agricultural Crops Blood Coagulation Disorders Eligibility Determination Familial Atypical Mole-Malignant Melanoma Syndrome Farmers Hemophilia A Infantile Neuroaxonal Dystrophy Livestock Males Malignant Neoplasms Pesticides Urination Urine Specimen Collection

Mosquito Rearing and Feeding Protocol

Newly emergent mosquitoes were sexed, counted, and housed at corresponding temperatures in 3.8-L mesh top paper cups provided with cotton pads soaked in 10% sucrose ad libitum. Survival of all groups was monitored and recorded daily. Dead adults were removed and frozen at −20°C. Wings from ≈20 adults per group per temperature were removed and placed on slides with double-sided tape and were subsequently measured from the alular notch to the distal margin, excluding the fringe using a Zeiss microscope, Axiocam camera, and Axiovision software (Carl Zeiss Microscopy, Gottingen, Germany) to estimate mosquito size (Dodson et al. 2011 (link)). Adults were grouped and housed as they emerged in 3-d intervals and held for 5–7 d to allow for mating. Mosquitoes were starved overnight for 12–24 h and offered defibrinated goose blood (Hema Resources, Aurora, OR) with 2.5% sucrose for 1-h. Mosquitoes were then anesthetized using CO₂, and blood-fed females were sorted, counted, and separated for housing into individual holding cups. Unfed females were kept in the original cup with males, and offered a second bloodmeal 5–7 d later. Oviposition dishes were placed in holding cups containing blood-fed females and were checked daily for the presence of egg rafts. Statistical analyses were performed using GraphPad Prism 4.0 and Statsplus 9.0.

CIOTA A.T., MATACCHIERO A.C., KILPATRICK A.M, & KRAMER L.D. (2014). The Effect of Temperature on Life History Traits of Culex Mosquitoes. Journal of medical entomology, 51(1), 55-62.

Publication 2014

Adult ARID1A protein, human BLOOD Culicidae Females Freezing Geese Gossypium Hemophilia A Hyperostosis, Diffuse Idiopathic Skeletal Males Microscopy Oviposition prisma Sucrose

Genetic Determinants of Hepatitis C Outcome

A total of 2401 individuals were selected from 13 distinct study groups. The study sites include the AIDS Link to the Intravenous Experience (ALIVE)(8 (link)), Baltimore Before and After Acute Study of Hepatitis (BBAASH)(9 (link)), Boston Area HCV Study Transmission, Immunity, Outcomes Network (BAHSTION)(10 (link)), Cramp (11 (link)), Hemophilia Growth and Development Cohort (HGDS)(12 (link)), Mangia(13 (link)), Multicenter Hemophilia Cohort Studies (MHCS I and II)(14 (link)), Correlates of Resolved Versus Low-Level Viremic Hepatitis C Infection in Blood Donors (REVELL Study) (15 (link)), The Swan Project(16 (link)), Toulouse cohort(17 (link)), Women’s Interagency HIV Study (WIHS)(18 (link)), and United Kingdom Drug Use cohort(19 (link)). Study sites were selected because they had well established HCV outcomes, available DNA and permission for genetic testing. Case definitions were determined by each study and are detailed in the Appendix. No HCV treatments were reported prior to the determination of persistence/spontaneous resolution. The following cohorts also were involved in a prior study in which rs12979860 near IL28B was reported to be associated with HCV recovery (ALIVE, n=281, MHCS, n=305, HGDS, n=106, REVELL, n=85, and United Kingdom Drug Use cohort, n=180)(5 (link)). Each individual study obtained consent for genetic testing as approved by the governing Institutional Review Board and provided DNA without identifiers to Johns Hopkins School of Medicine where DNA samples were prepared for testing, a process approved by the Johns Hopkins School of Medicine Institutional Review Board.

Duggal P., Thio C.L., Wojcik G.L., Goedert J.J., Mangia A., Latanich R., Kim A.Y., Lauer G.M., Chung R.T., Peters M.G., Kirk G.D., Mehta S.H., Cox A.L., Khakoo S.I., Alric L., Cramp M.E., Donfield S.M., Edlin B.R., Tobler L.H., Busch M.P., Alexander G., Rosen H.R., Gao X., Abdel-Hamid M., Apps R., Carrington M, & Thomas D.L. (2013). Genome wide association study of spontaneous resolution of hepatitis C virus infection. Annals of internal medicine, 158(4), 235-245.

Publication 2013

Acquired Immunodeficiency Syndrome Donor, Blood Ethics Committees, Research Hemophilia A Hepatitis A Muscle Cramp Pharmaceutical Preparations Response, Immune Transmission, Communicable Disease Viremia Woman