Hemofilia Online (Hemophilia)

¨Hemofilias são doenças hematológicas que acarretam alterações no processo da coagulação, devido à deficiência de algum fator de coagulação. As causas da doença são genéticas e as hemofilias mais comuns são a hemofilia A (deficiência de fator VIII) e hemofilia B (deficiência de fator IX). O gênero masculino é o mais acometido, com pico de ocorrência entre 20 e 29 anos, sendo que o tipo A aparece com maior frequência. Em todo mundo, 6,9 milhões de pessoas apresentam algum distúrbio hemorrágico e, no Brasil, quase 11 mil pessoas possuíam diagnóstico de algum tipo de hemofilia em 2012. Em virtude das alterações do processo de coagulação, as hemorragias tornam-se as complicações mais frequentes no indivíduo hemofílico, podendo ser espontâneas ou secundárias a um trauma. Os portadores de hemofilia apresentam dor persistente, que varia de intensidades moderada a intensa. Nessa população, o quadro álgico pode ocasionar a ocorrência de complicações musculoesqueléticas, como restrição dos movimentos articulares, fibrose articular, contraturas, alterações da marcha e da força muscular, hemartroses, hemorragias tissulares e artrite hemofílica (AH). O diagnóstico é feito por meio dos exames que investigam a cascata de coagulação: tempo de protrombina (TP), índice internacional normalizado (INR) e tempo de tromboplastina parcial ativada (TTPa). No caso de afetar a via intrínseca da coagulação, o TP estará normal, mas o TTPa estará alargado. Para confirmar se a deficiência é do fator IX podemos dosá-lo¨

■ Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management

Gary Benson, Günter Auerswald, Gerry Dolan et al

Blood Transfus. 2018 Nov; 16(6): 535–54

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214819/

■ Impact of prophyaxis on health-related quality of life of boys with hemofilia: na analysis of pooled data from 9 countries

Koyo Usuba, Victoria E. Price, Victor Blanchette et al

Res Pract Thromb Haemost. 2019 Jul; 3(3): 397–40

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611476/

■ Preventing lives affected by hemophilia: a mixed methods study of the views of adults with hemophilia and their families toward genetic screening

Felicity K. Boardman, Rachel Hale, Raksha Gohel, Philip J. Youn

Mol Genet Genomic Med. 2019 May; 7(5): e618

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503017/

■ Extending recombinant fator IX Fc fusion protein dosing interval to 14 or more days in patients with hemofilia B

Amy D. Shapiro, K. John Pasi, Margareth C. Ozelo et al

Res Pract Thromb Haemost. 2019 Jan; 3(1): 109–113

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332734/

■ Developing a new scoring scheme for the hemophilia Joint Health Score 2.1

Tiago Ribeiro, Audrey Abad, Brian M. Feldman

Res Pract Thromb Haemost. 2019 Jul; 3(3): 405–411

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611477/

■ Succesful use of emicizumab in a patient with refractory acquired hemophilia A and acute coronary syndrome requiring percutaneous coronary intervention – Case report

Kathryn E. Dane, John P. Lindsley, Michael B. Streiff et al

Res Pract Thromb Haemost. 2019 Jul; 3(3): 420–423.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611359/

■ Using pharmacokinetics for tailoring prophylaxis in people with hemophilia switching between clotting factor products: a scoping review

Jacky K. Yu, Alfonso Iorio, Andrea N. Edginton, the WAPPS co‐investigators

Res Pract Thromb Haemost. 2019 Jul; 3(3): 528–541

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611373/

■ Hemophilia trials in the twenty-first century: defining patient important outcomes

Barbara A. Konkle, Mark Skinner, Alfonso Iorio

Res Pract Thromb Haemost. 2019 Apr; 3(2): 184–192

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462740/

■ Hemofilia adquirida idiopática: um relato de caso

I N Concer, M M Felisberto, M E S Costi et al

Arquivos Catarineses de Medicina 2018, vol 47 (2)

http://www.acm.org.br/acm/seer/index.php/arquivos/article/view/239

■ Causes of death among 379 patients with hemophilia: a developing country´s report

Hassan Mansouritorghabeh, Hossein Rahimi, Seyed Tahereh Mohades, Maryam Behboud

Clin Appl Thromb Hemost. 2018 May; 24(4): 612–617

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714710/

■ Focusing in on use pharmacokinetic profiles in routine hemophilia care

Stacy E. Croteau, Michael U. Callaghan, Joanna Davis et al

Res Pract Thromb Haemost. 2018 Jul; 2(3): 607–614

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6046597/

■ Performing and interpreting individual pharmacokinetic profiles in patients with hemophilia A or B: rationale and general considerations

Alfonso Iorio, Andrea N. Edginton, Victor Blanchette et al

Res Pract Thromb Haemost. 2018 Jul; 2(3): 535–548

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6046594/

■ Systematic molecular analysis of hemophilia A patients from Colombia.

Yunis, Luz Karime et al.

Genet. Mol. Biol., Dec 2018, vol.41, no.4, p.750-757

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500750&lng=en&nrm=iso

■ The frequency of joint hemorrhages and procedures in nonsevere hemophilia A vs B

Michael Soucie, Paul E. Monahan, Roshni Kulkarni, Barbara A. Konkle, Marshall A. Mazepa

Blood Adv. 2018 Aug 28; 2(16): 2136–2144

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113607/

■ European principles of inhibitor management in patients with haemophili

L. F. Giangrande, C. Hermans, B. O’Mahony, P. de Kleijn et al

on behalf of the European Haemophilia Consortium (EHC) and the European Association for Haemophilia and Allied Disorders (EAHAD)

Orphanet J Rare Dis. 2018; 13: 66

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5921290/

■ Balance, falls, and exercise: beliefs and experiences in people with hemophilia: a qualitative study

Lorraine M. Flaherty, Jennie Schoeppe, Rebecca Kruse‐Jarres, Barbara A. Konkle

Res Pract Thromb Haemost. 2018 Jan; 2(1): 147–154

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055559/

■ A survey of characteristics and current educational needs of hemophilia treatment centers within Asia Pacific

Joyce C. M. Lam, M. Joseph John, Alison Street et al

the Asia Pacific Hemophilia Working Group (APHWG)

Res Pract Thromb Haemost. 2018 Jul; 2(3): 508–517.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6046602/

■ Product type and other environmental risk factors for inhibitor development in severe hemophilia A

Flora Peyvandi, Isabella Garagiola

Res Pract Thromb Haemost. 2018 Apr; 2(2): 220–227

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055565/

■ Abordagem fisioterápica na dor e na qualidade de vida de um indivíduo com artrite hemofílica. Relato de caso

Jorge, Matheus Santos Gomes et al.

Rev. dor, Mar 2016, vol.17, no.1, p.65-6

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1806-00132016000100065&lng=en&nrm=iso

■ Complication of haemophilia in babies (first two years of life): a report from the Centers for Disease Control and Prevention Universal Data Collection System

R Kulkarni, R J Presley, J M Lusher et al

Haemophilia. 2017 Mar; 23(2): 207–214

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5354941/

■ Gene therapy in hemophilia A: a cost-effectiveness analysis

Nicoletta Machin, Margaret V. Ragni, Kenneth J. Smith

Blood Adv. 2018 Jul 24; 2(14): 1792–1798.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058236/

■ Hemartrose subtalar, um diagnóstico raro

Rosemberg, Dov Lagus et

Rev bras.ortop 2017, vol 52 (2)

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-36162017000200228&lng=en&nrm=iso&tlng=pt ( Portuguese)

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-36162017000200228&lng=en&nrm=iso&tlng=en (English)