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Review

National strategic advocacy to manage patients with inherited bleeding disorders in low and lower-middle income countries

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Pages 1063-1076 | Received 17 Aug 2023, Accepted 06 Dec 2023, Published online: 15 Dec 2023

References

  • World Federation of Hemophilia. Report on the annual global survey 2021
  • Iorio A, Stonebraker JS, Chambost H, et al. Establishing the prevalence and the prevalence at birth of hemophilia in males; a meta-analytic approach using national registries. Ann Intern Med. 2019;17(8):540–6. doi: 10.7326/M19-1208
  • Evatt BL, Robillard L. Establishing haemophilia care in the developing countries: using data to overcome the barrier of pessimism. Haemophilia. 2000;6(3):131–4. doi: 10.1046/j.1365-2516.2000.00417.x
  • Evatt BL, Black C, Batorova A, et al. Comprehensive care for haemophilia around the world. Haemophilia. 2004;10(Suppl 4):9–13. doi: 10.1111/j.1365-2516.2004.01010.x
  • Peyvandi F, Duga S, Akhavan S, et al. Rare coagulation deficiencies. Haemophilia. 2002;8(3):308–321. doi: 10.1046/j.1365-2516.2002.00633.x
  • Chuansumrit A. Treatment of haemophilia in the developing countries. Haemophilia. 2003;9(4):387–390. doi: 10.1046/j.1365-2516.2003.00763.x
  • Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the management of hemophilia. Haemophilia. 2020;26(Suppl 6):19–34. doi: 10.1111/hae.14046
  • Rodeghiero F, Tosetto A, Abshire T, et al. ISTH_SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost. 2010;8(9):2063–5. doi: 10.1111/j.1538-7836.2010.03975.x
  • Elbatarny M, Mollah S, Grabell J, et al. Normal range of bleeding scores for the ISTH-BAT: adult and pediatric data from the merging project. Haemophilia. 2014;20(6):831–835. doi: 10.1111/hae.12503
  • Blanchette VS, Key NS, Ljung LR, et al. Definition in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost. 2014;12(11):1935–9. doi: 10.1111/jth.12672
  • Borhany M, Fatima N, Abid M, et al. Application of the ISTH bleeding score in hemophilia. Transfus Apher Sci. 2018;57(4):556–560. doi: 10.1016/j.transci.2018.06.003
  • Chuansumrit A, Pongtanakul B, Kadegasem P, et al. Accurate bedside diagnostic kit for determining haemophilia a and B. Haemophilia. 2009;15(1):361–364. doi: 10.1111/j.1365-2516.2008.01783.x
  • Sasanakul W, Kadegasem P, Chaiyaratana W, et al. Simple and accurate bedside diagnostic kit for determining haemophilia a and B: a revised version. Haemophilia. 2013;19(1):e48–9. doi: 10.1111/hae.12047
  • Chuansumrit A, Youttananukorn W, Sirachainan N, et al. Direct transfer of data of people with haemophilia from the Thai Haemophilia treatment centre registry to the World Bleeding Disorders Registry of the World. Federation of Hemophilia. Haemophilia. 2022;28(2):e68–70. doi: 10.1111/hae.14496
  • Manco-Johnson MJ, Abshire TC, Shapiro AD, et al. Prophylaxis versus episodic treatment to prevent joint disease in boy with severe hemophilia a. N Eng J Med. 2007;357(6):535–44. doi: 10.1056/NEJMoa067659
  • Miners AH, Sabin CA, Tolley KH, et al. Cost-utility analysis of primary prophylaxis versus treatment on-demand for individuals with severe haemophilia. PharmacoEconomics. 2002;20(11):759–774. doi: 10.2165/00019053-200220110-00005
  • Poonnoose P, Carneir JDA, Cruickshank AL, et al. Episodic replacement of clotting factor concentrates does not prevent bleeding or musculoskeletal damage-the MUSFIH study. Haemophilia. 2017;23(4):538–46. doi: 10.1111/hae.13242
  • Chuansumrit A, Krasaesub S, Angchaisuksiri P, et al. Survival analysis of patients with haemophilia at the international Haemophilia training Centre, Bangkok, Thailand. Haemophilia. 2004;10(5):542–549. doi: 10.1111/j.1365-2516.2004.00928.x
  • Chuansumrit A. The emerging national hemophilia coverage in Thailand: a result of routine service and research analysis. Siriraj Med J. 2006;58(12):1194–5.
  • Sooksriwong C, Boonkerd L, Chanjaruporn F, et al. Incremental cost effectiveness analysis for haemophilia home-based care programme in Thailand. Haemophilia. 2012;18(4):e362–3. doi: 10.1111/j.1365-2516.2012.02871.x
  • Pattanaprateep O, Chuansumrit A, Kongsakon R. Cost-utility analysis of home-based care for treatment of Thai hemophilia a and B. Value Health Reg Issues. 2014;3:73–8. doi: 10.1016/j.vhri.2014.02.008
  • Chuansumrit A, Isarangkura P, Hathirat P. Prophylactic treatment for hemophilia a patients: a pilot study. Southeast Asian J Trop Med Public Health. 1995;26(2):243–246.
  • Wu R, Liang X, Yao W, et al. Significant reduction in hemarthrosisi in boys with severe hemophilia: the China hemophilic individualized low-dose secondary prophylaxis study. Res Pract Thromb Haemost. 2021;5(6):e12552. doi: 10.1002/rth2.12552
  • Pierce GF, Adediran M, Diop S, et al. Achieving access to haemophilia care in low-income and lower-middle-income countries; expanded humanitarian aid program of the world federation of hemophilia after 5 years. Lancet Haematol. 2022;9(9):e689–97. doi: 10.1016/S2352-3026(22)00209-5
  • Mannucci PM. Hemophilia therapy: the future has begun. Haematologica. 2020;105(3):545–553. doi: 10.3324/haematol.2019.232132
  • Teitel JM, Barnard D, Israels S, et al. Home management of haemophilia. Haemophilia. 2004;10(2):118–133. doi: 10.1046/j.1365-2516.2003.00853.x
  • Aschman DJ, Abshire TC, Shapiro AD, et al. A community-based partnership to promote information infrastructure for bleeding disorders. Am J Prev Med. 2011;41(6 Suppl 4):S332–7. doi: 10.1016/j.amepre.2011.09.018
  • Valentino LA, Baker JR, Butler R, et al. Integrated hemophilia patient care via a national network of care centers in the United States: a model for rare coagulation disorders. J Blood Med. 2021;12:897–911. doi: 10.2147/JBM.S325031
  • St-Louis J, Abad A, Funk S, et al. The hemophilia joint health score version 2.1 validation in adult patients study: a multicenter international study. Res Pract Thromb Haemost. 2022;6(2):e12690. doi: 10.1002/rth2.12690
  • Martinoli C, Della Casa Alberighi O, Di Minno G, et al. Development and definition of a simplified scanning procedure and scoring method for Haemophilia early arthropathy detection with ultrasound (HEAD-US). Thromb Haemost. 2013;109(6):1170–1179. doi: 10.1160/TH12-11-0874
  • Caviglia H, Landro ME, Daffunchio C, et al. Platelet rich plasma for chronic synovitis treatment in patients with haemophilia. Haemophilia. 2017;23(4):613–619. doi: 10.1111/hae.13212
  • Lillicrap D, Fijnvandraat K, Young G, et al. Patients with hemophilia a and inhibitors: prevention and evolving treatment paradigms. Expert Rev Hematol. 2020;13(4):313–321. doi: 10.1080/17474086.2020.1739518
  • Ljung RCR. How I manage patients with inherited haemophilia a and B and factor inhibitors. Br J Haematol. 2018;180(4):501–510. doi: 10.1111/bjh.15053
  • Chuansumrit A, Srichainan N, Natesirinilkul R, et al. Real-world evidence on health resources use among patients with haemophilia and inhibitors exhibiting severe bleeding episodes. Haemophilia. 2020;27(1):69–80. doi: 10.1111/hae.14194
  • Li Z, Chen Z, Liu G, et al. Low-dose immune tolerance induction alone or with immunosuppressants according to prognostic risk factors in Chinese children with hemophilia a inhibitors. Res Pract Thromb Haemost. 2021;5(5):e12562. doi: 10.1002/rth2.12562
  • Kitazawa T, Igawa T, Sampei Z, et al. A bispecific antibody to factors IXa and X restores factor VIII hemostatic activity in a hemophilia a model. Nat Med. 2012;18(10):1570–1574. doi: 10.1038/nm.2942
  • Shima M, Hanabusa H, Taki M, et al. Factor VIII-mimetic function of humanized bispecific antibody in hemophilia a. N Engl J Med. 2016;374(21):2044–53. doi: 10.1056/NEJMoa1511769
  • Oldenburg J, Mahlangu JN, Kim B, et al. Emicizumab prophylaxis in hemophilia a with inhibitors. N Engl J Med. 2017;377(9):809–818. doi: 10.1056/NEJMoa1703068
  • Tang ASO, Leong TS, Ko CT, et al. Efficacy of reduced-dose emicizumab in haemophilia a with inhibitors: real world experience in east Malaysia [abstract]. Res Pract Thromb Haemost. 2021;5(Suppl 2):428. doi: 10.1097/01.HS9.0000977256.26946.4e
  • Chuansumrit A, Sirachainan N, Jaovisidha S, et al. Effectiveness of monthly low dose emicizumab prophylaxis without 4-week loading doses among patients with haemophilia a with and without inhibitors: a case series report. Haemophilia. 2023;29(1):382–385. doi: 10.1111/hae.14707
  • Bansal S, Donners AAMT, Fischer K, et al. Low dose emicizumab prophylaxis in haemophilia a patients: a pilot study from India. Haemophilia. 2023;29(3):931–934. doi: 10.1111/hae.14785
  • Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand’s disease. Blood. 1987;69(2):454–459. doi: 10.1182/blood.V69.2.454.454
  • Werner EJ, Broxson EH, Tucker EL, et al. Prevalence of von Willebrand disease in children: a multiethnic study. J Pediatr. 1993;123(6):893–898. doi: 10.1016/S0022-3476(05)80384-1
  • Sadler JE, Mannucci PM, Berntorp E, et al. Impact, diagnosis and treatment of von Willebrand disease. Thromb Haemost. 2000;84(2):160–74. doi: 10.1055/s-0037-1613992
  • Rojnuckarin P, Akkawat B, Intragumtornchai T. Von Willebrand factor (vWF) antigen levels and function in healthy thais. Southeast Asian J Trop Med Public Health. 2005;36(5):1292–1297.
  • Oved JH, Lambert MP, Kowalska MA, et al. Population based frequency of naturally occurring loss-of-function variants in genes associated with platelet disorders. J Thromb Haemost. 2021;19(1):248–254. doi: 10.1111/jth.15113
  • Palma-Barqueros V, Revilla N, Sánchez A, et al. Inherited platelet disorders: an updated overview. Int J Mol Sci. 2021;22(9):4521. doi: 10.3390/ijms22094521
  • Donaldson JW, McKeever TM, Hall IP, et al. The UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study. Thorax. 2014;69(2):161–167. doi: 10.1136/thoraxjnl-2013-203720
  • Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet. 2009;17(7):860–871. doi: 10.1038/ejhg.2009.35
  • Tinkle B, Castori M, Berglund B, et al. Hypermobile ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome type III and ehlers-Danlos syndrome hypermobility type): clinical description and natural history. Am J Med Genet C Semin Med Genet. 2017;175(1):48–69. doi: 10.1002/ajmg.c.31538
  • Federici AB, Bucciarelli P, Castaman G, et al. The bleeding score predicts clinical outcomes and replacement therapy in adults with von Willebrand disease. Blood. 2014;123(26):4037–4044. doi: 10.1182/blood-2014-02-557264
  • Relke N, Kuthiala S, Grabell J, et al. The bleeding score: useful in predicting spontaneous bleeding events in adults with bleeding of unknown cause? Haemophilia. 2020;26(2):e31–e33. doi: 10.1111/hae.13775
  • James PD, Connell NT, Ameer B, et al. ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease. Blood Adv. 2021;5(1):280–300. doi: 10.1182/bloodadvances.2020003265
  • Connell NT, Flood VH, Brignardello-Petersen R, et al. ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease. Blood Adv. 2021;5(1):301–25. doi: 10.1182/bloodadvances.2020003264
  • Leebeek FW, Eikenboom JC. Von Willebrand’s disease. N Engl J Med. 2016;375(21):2067–80. doi: 10.1056/NEJMra1601561
  • Pecci A, Ma X, Savoia A, et al. MYH9: structure, functions and role of non-muscle myosin IIA in human disease. Gene. 2018;664:152–167. doi: 10.1016/j.gene.2018.04.048
  • Gresele P, Harrison P, Gachet C. Subcommittee on platelet physiology of the international society on thrombosis and Hemostasis. Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH. J Thromb Haemost. 2015;13(2):314–322. doi: 10.1111/jth.12792
  • Thomas W, Downes K, Desborough MJR. Bleeding of unknown cause and unclassified bleeding disorders; diagnosis, pathophysiology and management. Haemophilia. 2020;26(6):946–957. doi: 10.1111/hae.14174
  • Natesirinilkul R, Sosothikul D, Komwilaisak P, et al. MYH9 disorder: identification and a novel mutation in patients with macrothrombocytopenia. Pediatr Blood Cancer. 2021;68(7):e29055. doi: 10.1002/pbc.29055
  • Chuansumrit A, Martinowitz U, Wangruangsathit S, et al. Stability of fibrin glue in body fluid. Rama Med J. 2000;23:1–7.
  • Khongjaroensakun N, Paisooksantivatana K, Santiwatana S, et al. A simple and applicable method for human platelet lysate preparation using citrate blood. Blood Lab Med. 2022;53(5):e109–12. doi: 10.1093/labmed/lmab116
  • Suwannuraks M, Chuansumrit A, Sriudomporn N. The use of fibrin glue as an operative sealant in dental extraction in bleeding disorder patients. Haemophilia. 1999;5(2):106–108. doi: 10.1046/j.1365-2516.1999.t01-1-00283.x
  • Poon MC, D’Oiron R, Von Depka M, et al. Prophylactic and therapeutic recombinant factor VIIa administration to patients with Glanzmann’s thrombasthenia: results of an international survey. J Thromb Haemost. 2004;2(7):1096–1103. doi: 10.1111/j.1538-7836.2004.00767.x
  • Mumford AD, Ackroyd S, Alikhan R, et al. Guideline for the diagnosis and management of the rare coagulation disorders: a United Kingdom Haemophilia Centre Doctors’ Organization guideline on behalf of the British Committee for Standards in Haematology. Br J Haematol. 2014;167(3):304–326. doi: 10.1111/bjh.13058
  • Peyvandi F, Garagiola I, Biguzzi E. Advances in the treatment of bleeding disorders. J Thromb Haemost. 2016;14(11):2095–2106. doi: 10.1111/jth.13491
  • Menegatti M, Palla R. Clinical and laboratory diagnosis of rare coagulation disorders (RCDs). Thromb Res. 2020 Dec;196:603–608. doi: 10.1016/j.thromres.2019.09.006
  • Palla R, Siboni SM, Menegatti M, et al. Establishment of a bleeding score as a diagnostic tool for patients with rare bleeding disorders. Thromb Res. 2016;148:128–134. doi: 10.1016/j.thromres.2016.11.008
  • Gresele P, Falcinelli E, Bury L, et al. The ISTH bleeding assessment tool as predictor of bleeding events in inherited platelet disorders: communication from the ISTH SSC subcommittee on platelet physiology. J Thromb Haemost. 2021;19(5):1364–1371. doi: 10.1111/jth.15263
  • Rauch A, Valentino LA, Mills K, et al. Big picture initiatives in bleeding disorders. Haemophilia. 2022;28(Suppl 4):53–60. doi: 10.1111/hae.14532
  • Di Minno MN, Dolce A, Mariani G, et al. Bleeding symptoms at disease presentation and prediction of ensuing bleeding in inherited FVII deficiency. Thromb Haemost. 2013;109(6):1051–9. doi: 10.1160/TH12-10-0740
  • Chuansumrit A, Parapakpenjune S, Natesirinilkul R, et al. Phenotypic and genotypic analysis of patients with congenital factor VIII deficiency in a multicenter study in Thailand. Ped Hematol Oncol J. 2022;7(4):130–5. doi: 10.1016/j.phoj.2022.08.003
  • Takamiya O. Genetic polymorphism (Arg353–>Gln) in coagulation factor VII gene and factor VII levels (coagulant activity, antigen and binding ability to tissue factor) in 101 healthy Japanese. Scand J Clin Lab Invest. 1995;55(3):211–5. doi: 10.3109/00365519509089615
  • Higham JM, O’Brien PM, Shaw RW. Assessment of menstrual blood loss using a pictorial chart. Br J Obstet Gynaecol. 1990;97(8):734–739. doi: 10.1111/j.1471-0528.1990.tb16249.x
  • McGrath M, Quint EH, Weyand AC. Depression in adolescents and young adults with heavy menstrual bleeding in a referral clinic setting. Am J Hematol. 2021;96(4):E105–8. doi: 10.1002/ajh.26093
  • Weyand AC, Fitzgerald KD, McGrath M, et al. Depression in adolescent females with heavy menstrual bleeding. J Pediatr. 2022;240:171–6. doi: 10.1016/j.jpeds.2021.09.007
  • Chuansumrit A, Sasanakul W, Sirachainan N, et al. Three-decade successive establishment of care for women/girls from families with haemophilia. Appl Clin Genet. 2022;15:133–143. doi: 10.2147/TACG.S381683
  • Plug I, Mauser-Bunschoten EP, Bröcker-Vriends AH, et al. Bleeding in carriers of hemophilia. Blood. 2006;108(1):52–6. doi: 10.1182/blood-2005-09-3879
  • Chuansumrit A, Sasanakul W, Promsonthi P, et al. Prenatal diagnosis for haemophilia: the Thai experience. Haemophilia. 2016;22(6):880–885. doi: 10.1111/hae.13002
  • Chuansumrit A, Isarangkura P, Chantanakajornfung A, et al. The efficacy and safety of lyophilized cryoprecipitate in hemophilia a. J Med Assoc Thai. 1999;82 Suppl 1(Suppl 1):S69–73.
  • El-Ekiaby M, Goubran HA, Radosevich M, et al. Pharmacokinetic study of minipooled solvent/detergent-filtered cryoprecipitate factor VIII. Haemophilia. 2011;17(5):e884–8. doi: 10.1111/j.1365-2516.2011.02511.x
  • Sasanakul W, Chuansumrit A, Rurgkhum S, et al. DNA extraction and amplification of 10-day, room temperature blood samples. J Med Assoc Thai. 1999;82(Suppl 1):S186–9.
  • Kadegasem P, Rurgkhum S, Sasanakul W, et al. DNA extraction from buffy coat sent by mail without ice. Thai J Hematol Transf Med. 2001;11:167–71.
  • Goodeve AC, Chuansumrit A, Sasanakul W, et al. A comparison of the allelic frequencies of ten DNA polymorphisms associated with factor VIII and factor IX genes in Thai and Western European populations. Blood Coagul Fibrinolysis. 1994;5(1):29–35. doi: 10.1097/00001721-199402000-00005
  • Goodeve AC, Tagariello G, Chuansumrit A, et al. A rapid and cost effective method for analysis of dinucleotide repeat polymorphisms in the factor VIII gene. Blood Coagul Fibrinolysis. 1996;7(7):672–677. doi: 10.1097/00001721-199610000-00002
  • Rossetti LC, Radic CP, Larripa IB, et al. Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene. J Thromb Haemost. 2008;6(5):830–836. doi: 10.1111/j.1538-7836.2008.02926.x
  • Megy K, Downes K, Morel-Kopp MC, et al. GoldVariants, a resource for sharing genetic variants detected in bleeding, thrombotic, and platelet disorders: communication from the ISTH SCC subcommittee on genomics in thrombosis and hemostasis. J Thromb Haemost. 2021;19(10):2612–7. doi: 10.1111/jth.15459
  • Pezeshkpoor B, Oldenburg J, Pavlova A. Insights into the molecular genetic of hemophilia a and hemophilia B: the relevance of genetic testing in routine clinical practice. Hamostaseologie. 2022;42(6):390–399. doi: 10.1055/a-1945-9429

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