Clinical and radiological assessment of joints in people with haemophilia in Assam, Northeast India: a cross-sectional study

1 Bicocchi MP, Migeon BR, Pasino M, et al. Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A. Eur J Hum Genet 2005; 13(5):635–40. doi: 10.1038/sj.ejhg.5201386. BicocchiMP MigeonBR PasinoM Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A Eur J Hum Genet 2005 13 5 635 40 10.1038/sj.ejhg.5201386 Open DOISearch in Google Scholar

2 Shoukat HMH, Ghous G, Tarar ZI, Shoukat MM, Ajmal N. Skewed inactivation of X chromosome: a cause of hemophilia manifestation in carrier females. Cureus 2020; 12(10): e11216. doi: 10.7759/cureus.11216. ShoukatHMH GhousG TararZI ShoukatMM AjmalN Skewed inactivation of X chromosome: a cause of hemophilia manifestation in carrier females Cureus 2020 12 10 e11216 10.7759/cureus.11216 Open DOISearch in Google Scholar

3 van Galen KPM, d’Oiron R, James P, et al. A new hemophilia carrier nomenclature to define hemophilia in women and girls: communication from the SSC of the ISTH. J Thromb Haemost 2021; 19(8): 1883–7. doi: 10.1111/jth.15397. van GalenKPM d’OironR JamesP A new hemophilia carrier nomenclature to define hemophilia in women and girls: communication from the SSC of the ISTH J Thromb Haemost 2021 19 8 1883 7 10.1111/jth.15397 Open DOISearch in Google Scholar

4 Borhany M, Pahore Z, ul Qadr Z, et al. Bleeding disorders in the tribe: result of consanguineous in breeding. Orphaned J Rare Dis 2010; 5: 23. doi: 10.1186/1750-1172-5-23. BorhanyM PahoreZ ul QadrZ Bleeding disorders in the tribe: result of consanguineous in breeding Orphaned J Rare Dis 2010 5 23 10.1186/1750-1172-5-23 Open DOISearch in Google Scholar

5 Dutta A, Dutta TS, Dey P. Clinical profile of haemophilia patients of upper Assam – a hospital-based study. J Evol Med Dent Sci 2017; 6(37): 2990–4. DuttaA DuttaTS DeyP Clinical profile of haemophilia patients of upper Assam – a hospital-based study J Evol Med Dent Sci 2017 6 37 2990 4 Search in Google Scholar

6 Iorio A, Stonebraker JS, Chambost H, et al. Establishing the prevalence and prevalence at birth of hemophilia in males: a meta-analytic approach using national registries. Ann Intern Med 2019; 171(8): 540–6. doi: 10.7326/M19-1208. IorioA StonebrakerJS ChambostH Establishing the prevalence and prevalence at birth of hemophilia in males: a meta-analytic approach using national registries Ann Intern Med 2019 171 8 540 6 10.7326/M19-1208 Open DOISearch in Google Scholar

7 World Federation of Hemophilia. Report on the Annual Global Survey 2020. October 2021. Montréal, Québec: WFH. Available from https://wfh.org/data-collection/#ags (accessed 4 March 2022). World Federation of Hemophilia Report on the Annual Global Survey 2020 October 2021 Montréal, Québec WFH Available from https://wfh.org/data-collection/#ags (accessed 4 March 2022). Search in Google Scholar

8 Ghosh K, Shukla R. Future of haemophilia research in India. Indian J Hematol Blood Transfus 2020; 36(1): 1–2. doi: 10.1007/s12288-017-0872-2. GhoshK ShuklaR Future of haemophilia research in India Indian J Hematol Blood Transfus 2020 36 1 1 2 10.1007/s12288-017-0872-2 Open DOISearch in Google Scholar

9 The GUaRDIAN Consortium, Sivasubbu S, Scaria V. Genomics of rare genetic diseases—experiences from India. Hum Genomics 2019; 13: 52. doi: 10.1186/s40246-019-0215-5. The GUaRDIAN Consortium SivasubbuS ScariaV Genomics of rare genetic diseases—experiences from India Hum Genomics 2019 13 52 10.1186/s40246-019-0215-5 Open DOISearch in Google Scholar

10 Van den Berg HM, de Groot PHG, Fischer K. Phenotypic heterogeneity in severe hemophilia. J Thromb Haemost 2007; 5(1): 151–156. doi: 10.1111/j.1538-7836.2007.02503.x. Van den BergHM de GrootPHG FischerK Phenotypic heterogeneity in severe hemophilia J Thromb Haemost 2007 5 1 151 156 10.1111/j.1538-7836.2007.02503.x Open DOISearch in Google Scholar

11 Valentino LA, Hakobyan N, Rodriguez N, Hoots WK. Pathogenesis of haemophilic synovitis: experimental studies on blood-induced joint damage. Haemophilia 2007; 13(3): 10–3. doi: 10.1111/j.1365-2516.2007.01534.x. ValentinoLA HakobyanN RodriguezN HootsWK Pathogenesis of haemophilic synovitis: experimental studies on blood-induced joint damage Haemophilia 2007 13 3 10 3 10.1111/j.1365-2516.2007.01534.x Open DOISearch in Google Scholar

12 Roosendaal G, Van Rinsum AC, Vianen ME, Van den Berg HM, Lafeber FP, Bijlsma JW. Haemophilic arthropathy resembles degenerative rather than inflammatory joint disease. Histopathology 1999; 34(2): 144–53. doi: 10.1046/j.1365-2559.1999.00608.x. RoosendaalG Van RinsumAC VianenME Van den BergHM LafeberFP BijlsmaJW Haemophilic arthropathy resembles degenerative rather than inflammatory joint disease Histopathology 1999 34 2 144 53 10.1046/j.1365-2559.1999.00608.x Open DOISearch in Google Scholar

13 Guha A, Rai A, Nandy A, et al. Joint scores in hemophilic arthropathy in children: Developing country perspectives. Eur J Rheumatol 2020; 7(1): 26–30. doi: 10.5152/eurjrheum.2019.19040. GuhaA RaiA NandyA Joint scores in hemophilic arthropathy in children: Developing country perspectives Eur J Rheumatol 2020 7 1 26 30 10.5152/eurjrheum.2019.19040 Open DOISearch in Google Scholar

14 Gualtierotti R, Solimeno LP, Peyvandi F. Hemophilic arthropathy: current knowledge and future perspectives. JThromb Haemost 2021; 19(9): 2112–21. doi: 10.1111/jth.15444. GualtierottiR SolimenoLP PeyvandiF Hemophilic arthropathy: current knowledge and future perspectives JThromb Haemost 2021 19 9 2112 21 10.1111/jth.15444 Open DOISearch in Google Scholar

15 Seuser A, Khayat CD, Negrier C, Sabbour A, Heijnen L. Evaluation of early musculoskeletal disease in patients with haemophilia: results from an expert consensus. Blood Coagul Fibrinolysis 2018; 29(6): 509–520. doi: 10.1097/MBC.0000000000000767. SeuserA KhayatCD NegrierC SabbourA HeijnenL Evaluation of early musculoskeletal disease in patients with haemophilia: results from an expert consensus Blood Coagul Fibrinolysis 2018 29 6 509 520 10.1097/MBC.0000000000000767 Open DOISearch in Google Scholar

16 Srivastava A, Santagostino E, Dougall A, et al. WFH Guidelines for the Management of Hemophilia, 3rd edition. Haemophilia 2020; 26(6): 1–158. doi: 10.1111/hae.14046. SrivastavaA SantagostinoE DougallA WFH Guidelines for the Management of Hemophilia, 3rd edition Haemophilia 2020 26 6 1 158 10.1111/hae.14046 Open DOISearch in Google Scholar

17 Di Minno MND, Pasta G, Airaldi S, Zaottini F, Storino A, Cimino E, et al. Ultrasound for early detection of joint disease in patients with hemophilic arthropathy. J Clin Med 2017; 6(8): 77. doi: 10.3390/jcm6080077. Di MinnoMND PastaG AiraldiS ZaottiniF StorinoA CiminoE Ultrasound for early detection of joint disease in patients with hemophilic arthropathy J Clin Med 2017 6 8 77 10.3390/jcm6080077 Open DOISearch in Google Scholar

18 Choudhary R, Sharma P, Nigam RK, Malik R. Functional Independence Score in haemophilia: A hospital based observational study in a tertiary care center in Central India. J Evid Based Med Healthc 2019; 6(41): 2702–5. doi: 10.18410/jebmh/2019/560. ChoudharyR SharmaP NigamRK MalikR Functional Independence Score in haemophilia: A hospital based observational study in a tertiary care center in Central India J Evid Based Med Healthc 2019 6 41 2702 5 10.18410/jebmh/2019/560 Open DOISearch in Google Scholar

19 Kavaklı K, Özbek SS, Antmen AB, et al. Impact of the HEAD-US scoring system for observing the protective effect of prophylaxis in hemophilia patients: A prospective, multicenter, observational study. Turkish J Hematol 2021; 38(2): 101–110. doi: 10.4274/tjh.galenos.2021.2020.0717. KavaklıK ÖzbekSS AntmenAB Impact of the HEAD-US scoring system for observing the protective effect of prophylaxis in hemophilia patients: A prospective, multicenter, observational study Turkish J Hematol 2021 38 2 101 110 10.4274/tjh.galenos.2021.2020.0717 Open DOISearch in Google Scholar

20 Knobe K, Berntorp E. Haemophilia and joint disease: pathophysiology, evaluation, and management. J Comorb 2011; 1(1): 51–59. doi: 10.15256/joc.2011.1.2. KnobeK BerntorpE Haemophilia and joint disease: pathophysiology, evaluation, and management J Comorb 2011 1 1 51 59 10.15256/joc.2011.1.2 Open DOISearch in Google Scholar

21 Frija G, Blažić I, Frush DP, et al. How to improve access to medical imaging in low-and middle-income countries? EClinicalMedicine 2021; 38: 101034. doi: 10.1016/j.eclinm.2021.101034. FrijaG BlažićI FrushDP How to improve access to medical imaging in low-and middle-income countries? EClinicalMedicine 2021 38 101034. 10.1016/j.eclinm.2021.101034 Open DOISearch in Google Scholar

22 Payal V, Sharma P, Chhangani NP, Janu Y, Singh Y, Sharma A. Joint health status of hemophilia patients in Jodhpur region. Indian J Hematol Blood Transfus 2015; 31(3): 362–366. doi: 10.1007/s12288-014-0465-2. PayalV SharmaP ChhanganiNP JanuY SinghY SharmaA Joint health status of hemophilia patients in Jodhpur region Indian J Hematol Blood Transfus 2015 31 3 362 366 10.1007/s12288-014-0465-2 Open DOISearch in Google Scholar

23 Mishra S, Kumar S, Panwar A, et al. A clinical profile of hemophilia patients and assessment of their quality of life in Western Uttar Pradesh, India: An observational study. Med J Dr DY Patil Univ [serial online] 2016; 9(3): 320–324. Available from https://www.mjdrdypu.org/text.asp?2016/9/3/320/182501. MishraS KumarS PanwarA A clinical profile of hemophilia patients and assessment of their quality of life in Western Uttar Pradesh, India: An observational study Med J Dr DY Patil Univ [serial online] 2016 9 3 320 324 Available from https://www.mjdrdypu.org/text.asp?2016/9/3/320/182501. Search in Google Scholar

24 Jansen NWD, Roosendaal G, Lundin B, et al. The combination of the biomarkers urinary C-terminal telopeptide of type II collagen, serum cartilage oligomeric matrix protein, and serum chondroitin sulfate 846 reflects cartilage damage in hemophilic arthropathy. Arthritis Rheum 2009; 60(1): 290–8. doi: 10.1002/art.24184. JansenNWD RoosendaalG LundinB The combination of the biomarkers urinary C-terminal telopeptide of type II collagen, serum cartilage oligomeric matrix protein, and serum chondroitin sulfate 846 reflects cartilage damage in hemophilic arthropathy Arthritis Rheum 2009 60 1 290 8 10.1002/art.24184 Open DOISearch in Google Scholar

25 Stephensen D, Tait RC, Brodie N, et al. Changing patterns of bleeding in patients with severe haemophilia A. Haemophilia 2009; 15(6): 1210–4. doi: 10.1111/j.1365-2516.2008.01876.x. StephensenD TaitRC BrodieN Changing patterns of bleeding in patients with severe haemophilia A Haemophilia 2009 15 6 1210 4 10.1111/j.1365-2516.2008.01876.x Open DOISearch in Google Scholar

26 Rodriguez-Merchan EC, Jimenez-Yuste V, Aznar JA. Joint protection in haemophilia. Haemophilia 2011; 17(2): 1–12. doi: 10.1111/j.1365-2516.2011.02615.x. Rodriguez-MerchanEC Jimenez-YusteV AznarJA Joint protection in haemophilia Haemophilia 2011 17 2 1 12 10.1111/j.1365-2516.2011.02615.x Open DOISearch in Google Scholar

27 Valentino LA, Taylor A. Hemophilia Clinical Consults: hemophilic arthropathy, reduced bone density and preventive strategies. Clin Consult 2011; 1:1. ValentinoLA TaylorA Hemophilia Clinical Consults: hemophilic arthropathy, reduced bone density and preventive strategies Clin Consult 2011 1 1 Search in Google Scholar

28 Centers for Disease Control and Prevention. Report on the Universal Data Collection Program. 2005. 7 (no. 1): 1–39. Available from https://www.cdc.gov/ncbddd/blooddisorders/udc/documents/report-udcprogram_may-1998-december-2004_july-2005.pdf. Centers for Disease Control and Prevention Report on the Universal Data Collection Program 2005 7 1 1 39 Available from https://www.cdc.gov/ncbddd/blooddisorders/udc/documents/report-udcprogram_may-1998-december-2004_july-2005.pdf. Search in Google Scholar

29 Van Dijk K, Fischer K, Van Der Bom JG, Grobbee DE, Van Den Berg HM. Variability in clinical phenotype of severe haemophilia: the role of the first joint bleed. Haemophilia 2005; 11(5): 438–43. doi: 10.1111/j.1365-2516.2005.01124.x. Van DijkK FischerK Van Der BomJG GrobbeeDE Van Den BergHM Variability in clinical phenotype of severe haemophilia: the role of the first joint bleed Haemophilia 2005 11 5 438 43 10.1111/j.1365-2516.2005.01124.x Open DOISearch in Google Scholar

30 Hassan TH, Badr MA, El-Gerby KM. Correlation between musculoskeletal function and radiological joint scores in haemophilia A adolescents. Haemophilia 2011; 17(6): 920–5. doi: 10.1111/j.1365-2516.2011.02496.x. HassanTH BadrMA El-GerbyKM Correlation between musculoskeletal function and radiological joint scores in haemophilia A adolescents Haemophilia 2011 17 6 920 5 10.1111/j.1365-2516.2011.02496.x Open DOISearch in Google Scholar

31 Fischer K, van der Bom JG, Mauser-Bunschoten EP, et al. The effects of postponing prophylactic treatment on long-term outcome in patients with severe hemophilia. Blood 2002; 99(7): 2337–41. doi: 10.1182/blood.v99.7.2337. FischerK van der BomJG Mauser-BunschotenEP The effects of postponing prophylactic treatment on long-term outcome in patients with severe hemophilia Blood 2002 99 7 2337 41 10.1182/blood.v99.7.2337 Open DOISearch in Google Scholar

32 Valentino LA. Blood-induced joint disease: the pathophysiology of hemophilic arthropathy. J Thromb Haemost 2010; 8(9): 1895–902. doi: 10.1111/j.1538-7836.2010.03962.x. ValentinoLA Blood-induced joint disease: the pathophysiology of hemophilic arthropathy J Thromb Haemost 2010 8 9 1895 902 10.1111/j.1538-7836.2010.03962.x Open DOISearch in Google Scholar

33 Tlacuilo-Parra A, Villela-Rodriguez J, Garibaldi-Covarrubias R, Soto-Padilla J, Orozco-Alcala J. Functional independence score in hemophilia: A cross-sectional study assessment of Mexican children. Pediatr Blood Cancer 2010; 54(3): 394–7. doi: 10.1002/pbc.22291. Tlacuilo-ParraA Villela-RodriguezJ Garibaldi-CovarrubiasR Soto-PadillaJ Orozco-AlcalaJ Functional independence score in hemophilia: A cross-sectional study assessment of Mexican children Pediatr Blood Cancer 2010 54 3 394 7 10.1002/pbc.22291 Open DOISearch in Google Scholar

34 Altisent C, Martorell M, Crespo A, Casas L, Torrents C, Parra R. Early prophylaxis in children with severe haemophilia A: clinical and ultrasound imaging outcomes. Haemophilia 2016; 22(2): 218–24. doi: 10.1111/hae.12792. AltisentC MartorellM CrespoA CasasL TorrentsC ParraR Early prophylaxis in children with severe haemophilia A: clinical and ultrasound imaging outcomes Haemophilia 2016 22 2 218 24 10.1111/hae.12792 Open DOISearch in Google Scholar