No description available.

No description available.

Coagulation factor VIII is needed for the treatment of patients with haemophilia. Requirements for factor VIII are important in determining the numbers of blood donations to be collected in Scotland. The final yield of factor VIII:C in products prepared from blood plasma, when prepared either in the Transfusion Centres or the National Fractionation Centre, is relatively low (30-40%). Improvements in these processes would have major implications for the Transfusion Service. Present technology requires the freezing of plasma from blood donations prior to the preparation of cryoprecipitate; this may then be processed further to produce factor VIII concentrate. In this study, the effects of using different anticoagulants (citrate, heparin), of varying the rate of freezing and the duration of storage on the factor VIII content of plasma and subsequent products have been investigated. The influence of ABO blood group and of drug induced enhancement on levels of factor VIII in starting plasma were also studied. Improvements in the mode of preparing cryoprecipitate from plasma have been made on the basis of the observed effects on processing plasma of different quality (collection procedure, age, etc .) and by various methods. Investigation of the mechanism of cryoprecipitation has led to the development of a high-yield method for the preparation of factor VIII from unfrozen plasma by precipitation with hydrophilic polymers. In the course of this work, methods were developed for the isolation of factor VIII and fibronectin and immunological assays for these and other proteins (fibrinogen), based on immunoprecipitation and immunoradiometric methods, were set up. The immunoradiometric methods were used to follow the recovery and survival of factor VIII components following infusion into patients deficient in this protein. Based on the work described in this thesis, recommendations will be made on the possibilities for improved procurement of factor VIII from blood donations.

MSc (Med) Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, 2009 / The underlying mechanism and determinants of inhibitor formation in approximately 30% haemophilia A and 5% haemophilia B patients are not fully understood. A large amount of the data on immune responses against FVIII and FIX is from animal models. Studies investigating cytokines in haemophilia are very limited and fragmentary, and the classification of hemophilia patients according to their factor activity levels has been observed to be inconsistent. The current study aims to find the associations between factor levels, clinical phenotype, cytokine profiles and polymorphisms in the IL-10 gene promoter of haemophilia A and B patients with and without inhibitors. This may give more insight into the pathophysiology of haemophilia, help improve the understanding of the pathogenic mechanisms that underlie inhibitor development, and facilitate new diagnostic and therapeutic strategies for haemophilia. Haemophilia A and B patients with and without inhibitors were enrolled in the current study. Forty (40) patients from the Charlotte Maxeke Johannesburg Academic Hospital Haemophilia Comprehensive Care Centre (CMJAH-HCCC) were randomly selected. An equal number of frequent bleeders and infrequent bleeders were recruited. Frequent bleeders were defined as those patients with 2 or more bleeding episodes per month on three consecutive months. Bleeding frequency was evaluated on the patient’s bleeding charts. FVIII and FIX activity levels of all patients were measured using the Dade Behring Sysmex CA-7000 coagulation analyzer, and information on each patient’s bleeding episodes was obtained from the haemophilia bleeding charts. The inhibitor status of all patients was evaluated using the Bethesda inhibitor assay. IL-1β, IL-6 and TNF-α were analyzed using an ELISA kit method. IL-2, IL-4, IL-10 and IFN-γ were analyzed using the CBA Human TH1/TH2 Cytokine Kit. DNA was extracted using the Nucleon BACC3 from Amersham Biosciences. Polymorphisms in the IL-10 gene promoter region were analyzed using PCR. The Statistica Release 8 statistics package was used for statistical analysis. The present study population showed significant discrepancies in the theoretic classification of haemophilia patients. Severe haemophilia patients had significantly higher levels of IL-6 than the mild/moderate group and biochemical classification correlated positively with IL-6. IL-6 was also the only significant predictor of biochemical classification. IL-1β and IL-4 was found to be significantly higher in the mild/moderate group than in the severe group. There were no significant differences in the levels of IL-2, IL-10, and IFNγ between the mild/moderate and severe groups and between patients with inhibitors and without inhibitors. There were also no differences in the cytokine profiles of low and high responders. No significant differences were found between cytokine profiles of frequent and infrequent bleeders. IL-6 and TNF-α were found to be significantly higher in patients with inhibitors than in haemophilia patients without inhibitors. IL-6 and IL-1β were the only significant predictors of the inhibitor status of haemophilia patients. Haemophilia severity and race were found to be significant risk factors for inhibitor development. A 150 bp allele of the IL-10 promoter region with the microsattelite marker was observed in patients with and without inhibitors as well as the healthy controls. The 150 bp allele was also observed in both black and white subjects. Large phenotypic heterogeneity exists in haemophilia patients. The pro-inflammatory cytokines IL-6 and IL-1β together with IL-4 may be involved in determining the biochemical severity of haemophilia. IL-6 was the only cytokine in this study found to be a significant predictor of bleeding frequency. The study results also suggest that IL-6 and IL-1β may be involved in the production of antibodies against infused factor in patients with inhibitors. The presence of a 150 bp allele of the highly polymorphic IL-10 promoter region in patients with and without inhibitors as well as the healthy controls suggests that, polymorphisms in this gene do not influence inhibitor development in this population.

No description available.

M.Sc. (Med.), Faculty of Health Sciences, University of the Witwatersrand, 2009. / Haemophilia A is a common X-linked recessive bleeding disorder, affecting about 1 in 5000 males worldwide. It is caused by a deficiency of functional coagulation Factor VIII (FVIII), resulting in prolonged or abnormal bleeding episodes. The severity of the disease is related to the level of functional FVIII in the plasma. The FVIII gene is a large gene, located at Xq28 with a complex genomic organisation. It contains 26 exons spanning 186kb of genomic DNA, and produces a 9kb transcript, resulting in a functional protein of 2332 amino acids. Over 900 mutations, which span a wide variety of categories, including rearrangements; complete or partial gene deletions; large insertions; duplications; frameshift mutations; splicing defects; nonsense and missense mutations, have been identified in the FVIII gene. Most mutations are rare or family specific, except for the intron 22 inversion mutation, which is reported to account for 45-50% of mutations in severe haemophilia A patients in most populations. A second inversion mutation, in intron 1, accounts for approximately 3.8% of haemophilia A patients in the UK. In South Africa, diagnostic mutation testing is currently only available for the intron 22 inversion mutation. Linked marker analysis is used to track high risk alleles in families where the disease-causing mutation is unknown. This study aims to evaluate an mRNA-based method to identify disease-causing mutations in South African haemophilia A patients and improve the diagnostic service. Blood samples from 120 patients were tested first for the intron 22 and then for intron 1 inversion mutations. Inversion negative patients were analysed further using mRNA. A mutation has been identified in 73.3% (88/120) of all patients. 30% (36/120) of patients had the intron 22 inversion, 2.5% (3/120) an intron 1 inversion and 40.8% (49/120) of patients had a mutation identified by mRNA analysis. A mutation was not identified in the remaining 26.7% (32/120) due to sample and technical difficulties. Of the 49 mutations identified through mRNA analysis, 28 patients (57.1%) have a point mutation (17 missense (34.7%), 9 nonsense (18.4%) and 2 splice-site mutations (4.1%)), 9 patients (18.4%) have a deletion and 7 patients (14.3%) have an insertion. Another 5 patients (10.2%) have a complex mutation (including patients where an exon deletion was detected on mRNA analysis, but no mutation was identified on DNA analysis). One mutation, c.3637insA, was found recurrently in 14% (6/43) of patients from the white population. This single base insertion results in a frameshift mutation with a premature stop codon at amino acid 1221 (only translating about half the normal FVIII protein). This common mutation, together with haplotype analysis, suggests a founder effect for this mutation. mRNA analysis of the FVIII gene is a novel technique in mutation detection for haemophilia A. It decreases the costs involved in sequencing the coding region and it offers improved mutation detection compared to DNA analysis. Diagnostic testing in South Africa should be extended from the current intron 22 inversion mutation to include DNA analysis for the intron 1 inversion and the founder mutation (c.3637insA) in white patients, followed by mRNA testing, starting with the analysis of the fragments spanning exon 14. mRNA analysis identifies an additional 55.7% of mutations compared to conventional diagnostic testing for the intron 22 inversion alone.

Summary Hemophilia A and B are two X-linked recessive bleeding disorders caused by deficiency or absence of coagulation factor VIII and IX, respectively. There are more then 100 patients with this disorder in Lithuania. Affected individuals develop a variable degree of haemorrhage predominantly into joints and muscles. The severity of bleeding symptoms is correlating well with the residual activities of the corresponding clotting factors. Thus, patients with severe disease (F VIII / F IX < 1 %) usually experience recurrent spontaneous bleeding episodes while non-severely affected patients (F VIII / F IX > 1%) mainly bleed unop provocation. People who suffer from hemophilia are troubled by deformation of joints, alternation of limbs' length, arthrosis aches, and muscle contractures. The experience of latter summer camps showed that there was success to decrease those handicap phenomena significantly. That was reached by hemophilia patients' active physical activity at the seaside and kinesitherapy procedures. Evaluating the efficiency of kinesitherapy for the joint amplitude and muscle strength for those who suffer from hemophilia, it was depended on the dynamics of joints movements, measuring of arms and legs segments size, determination of muscle strength by Brooke's modified scale. Patients suffering from 19A and B forms of disease participated in the survey. They were divided into 2 groups according to the age - children up to 16 years of age and adults over 16 years of... [to full text]

Orientador: Margareth Castro Ozelo / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-26T23:10:22Z (GMT). No. of bitstreams: 1 Pinto_GlendaFeldbergAndrade_M.pdf: 9864752 bytes, checksum: 5d43b3d80ecd27b3c366ad3012943bbc (MD5) Previous issue date: 2015 / Resumo: A hemofilia é uma doença hemorrágica hereditária ligada ao cromossomo X caracterizada pela deficiência do fator VIII (hemofilia A) ou fator IX (hemofilia B). As principais manifestações clínicas da hemofilia são as hemorragias articulares (hemartroses) e musculares (hematomas). Os sangramentos recorrentes frequentemente provocam comprometimentos musculoesqueléticos que desencadeiam a artropatia hemofílica e causam limitações na capacidade funcional desses pacientes. O presente estudo tem como objetivo avaliar o efeito das atividades aquáticas visando melhorar a capacidade funcional dos pacientes com hemofilia. Este estudo foi do tipo intervenção, com pacientes com hemofilia do Hemocentro da UNICAMP, maiores de 6 anos e que apresentassem pelo menos um dos joelhos afetados. Os pacientes selecionados foram avaliados pré- e pós-intervenção através dos instrumentos de avaliação clínica desenvolvidos e validados para hemofilia, incluindo o escore funcional de hemofilia (Functional Independence Score, FISH), o escore de saúde articular na hemofilia (Haemophilia Joint Health Score - HJHS), o questionário de atividades funcionais para pacientes hemofílicos (Haemophilia Activities List, HAL), ou questionário de atividades funcionais para pacientes com menos de 18 anos (Pediatric Haemophilia Activities List, PedHAL). Foi utilizado a eletromiografia de superfície (EMGs) dos músculos da coxa bilateralmente (vasto lateral, vasto medial e bíceps femoral), avaliação da força muscular através da célula de carga dos músculos extensores e flexores e avaliação eletromiográfica da atividade funcional de levantar e sentar. A atividade aquática consistiu na realização de pelo menos 24 sessões do protocolo de hidroterapia desenvolvido e realizado no serviço de fisioterapia do Hemocentro da UNICAMP, ou como alternativa os pacientes foram encaminhados para frequentar pelo menos 24 aulas regulares de natação. O período médio da atividade aquática foi de 12 semanas. Trinta e dois pacientes entre 6 e 40 anos (mediana: 12 anos), com diagnóstico de hemofilia (22 A grave, 9 B grave e 1 A moderada), sem atividades físicas regulares, foram incluídos. Trinta pacientes haviam iniciado a profilaxia secundária ou terciária, por diferentes razões, durante o ano anterior à intervenção aquática. Do total, 11 pacientes realizaram hidroterapia e 21 natação. A comparação de variáveis numéricas pré- e pós-intervenção no grupo de hidroterapia ou natação mostrou diferença estatisticamente significativa para as variáveis: escore de saúde articular (HJHS), para hidroterapia (p=0,006) e natação (p=0,001); escore funcional (FISH) somente para a hidroterapia (p=0,021); PedHAL para hidroterapia (p=0,022) e natação (p=0,001); HAL para hidroterapia (p=0,038) e natação (p=0,024). Em relação aos resultados obtidos através da eletromiografia, primeiramente da força muscular obtido através da célula de carga, é importante notar a ausência de melhora significativa da força muscular no grupo de pacientes que realizou a hidroterapia, principalmente ao compararmos com os dados observados no grupo da natação, onde houve melhora significativa em todos os músculos analisados. Em seguida, em relação à amplitude do sinal eletromiográfico, observamos a melhora do sinal de todos os músculos avaliados após a intervenção hidroterápica e natação, exceto para o músculo vasto medial D no grupo da hidroterapia. Na avaliação da atividade funcional foi observada diferença significativa somente para natação e forte tendência para hidroterapia. Podemos concluir nesse estudo, que um programa de atividade aquática funcional (hidroterapia ou natação), com frequência de 24 sessões, mesmo quando realizado em pacientes com hemofilia que apresentavam comprometimento em membros inferiores, foi eficaz com melhora significativa na saúde articular, além de melhora na funcionalidade, com aumento da força muscular analisada em membros inferiores / Abstract: Haemophilia is an inherited bleeding disorder X-linked, characterized by a decreased activity or lack of clotting factors VIII (haemophilia A) or IX (haemophilia B). The main clinical manifestations of haemophilia are bleeding into the joints (haemarthroses) and in the muscles (haematomas). The current bleeding often causes musculoskeletal impairments that trigger haemophilic arthropathy and promoting functional capacity limitations in these patients. The purpose of this study was to evaluate the effect of the functional aquatic activities in order to improve the functional capacities of patients with haemophilia. It was used the surface electromyography assessment to evaluate the responses of muscle function before and after functional aquatic activities. This study was the intervention type with patients selected from the haemophilia sector of Hemocentro UNICAMP diagnosed with haemophilia, within the predetermined criteria, over the aged of 6 years. After the selection, the assessment tools consisted of: Functional Independence Score (FISH), Haemophilia Joint Health Score (HJHS), the Haemophilia Activities List (HAL), PedHAL which is a version for children and adolescents aged 8 to 17 years and evaluation by surface electromyography of the thigh muscles (vastus lateralis, vastus medialis and femoral biceps), muscular strength assessment by surface electromyography of the extensor and flexor muscles and functional activity by surface electromyography to get up and sit down. We included in this study the institution of an aquatic protocol to reproduce functional improvements in patients with haemophilia. Thirty-two PWH (23 sHA, 8 sHB and 1mHA), aged 6 to 40 years (12(6-40y)), without previous regular physical activity, were enrolled in this evaluation. 30/32 patients started secondary or tertiary prophylaxis for different reasons, during the year before taking off the aquatic intervention. Later the initial evaluation, the patients underwent functional aquatics activities in our service (hydrotherapy) and as an alternative for patients who were unable to attend our service, these were referred to swimming, an aggregate of 24 sessions around 3 months. Later on the intervention, patients were reassessed for comparison of pre and post-intervention. For statistical analysis, we used the paired Wilcoxon test and unpaired for comparison of mathematical variables and Fisher's exact test for categorical variables. The comparison of numerical variables between hydrotherapy and pre and post-intervention, swimming showed statistically significant deviations in the variables, health joint score (p = 0.006 and p = 0.001) respectively, running score (FISH) (p = 0.021) solely for the hydrotherapy, PedHAL (Sum score) (p = 0.022 and p = 0.001) for hydrotherapy and swimming. In relation to the results obtained through the electromyography, firstly to muscle strength obtained through the load cell, it is important to note the lack of significant improvement in muscle strength in the group of patients who performed hydrotherapy, especially when compared with the data observed in the swimming group, where there has been significant improvement in all muscles tested. Then, in relation to the electromyographic signal amplitude, significant signal improvement was observed in all muscles evaluated after hydrotherapy and swimming intervention except for the vastus medialis (right) in the hydrotherapy group. To sum up, we conclude that a functional aquatic activity program (hydrotherapy or swimming), with frequency of 24 sessions, even when performed in patients with haemophilia who presented commitment in lower limbs, was effective with significant improvement in joint health, and addition to improvement in functionality, with increased muscle strength assessed in lower limbs / Mestrado / Clinica Medica / Mestra em Clínica Médica

Orientadores: Margareth Castro Ozelo, Joyce Maria Annichino Bizzacchi / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-08T06:42:30Z (GMT). No. of bitstreams: 1 Silva_JanainaBossoJoseda_M.pdf: 4876420 bytes, checksum: 5b610c8a9244d994e2a21f8261d30ef2 (MD5) Previous issue date: 2006 / Resumo: A iontoforese é uma técnica de transferência de drogas mediadas por um fluxo elétrico. Os benefícios terapêuticos da introdução de medicamentos pela iontoforese incluem a diminuição de efeitos colaterais sistêmicos aos quais o paciente apresenta intolerância e a ação localizada do medicamento podendo este estar em maior concentração na área alvo, onde sua ação é mais efetiva e prolongada. No caso da hemofilia, efeito adicional é observado, pois o paciente é poupado de um procedimento invasivo, como punção venosa ou aplicação intra-articular, que depende da reposição dos concentrados de fator. O emprego da iontoforese corrobora a idéia de intervenção direta nos quadros agudos de hemartrose e na sinovite crônica, de maneira não invasiva. Primeiramente, elaboramos um protocolo em conjunto com o Departamento de Medicina Nuclear do Hospital das Clínicas da Unicamp com o objetivo de comprovarmos, através de experimentos cintilográficos em humanos o transporte transdérmico dinâmico pela iontoforese. Uma vez comprovado o mecanismo iontoforético, avaliamos através de modelo experimental suíno o comportamento dos fármacos com potencial uso na hemofilia, seja nos episódios agudos de hemartrose (ácido e-aminocapróico - EACA) ou tratamento da sinovite crônica (ácido hialurônico e cloridrato de oxitetraciclina). O uso de fármacos com poder hemostático durante os episódios agudos de hemartrose, além do tratamento da sinovite crônica, permitem a longo e curto prazo uma recuperação mais rápida da articulação, além de otimizar o consumo final de hemoderivados ou qualquer outra forma de reposição de fator. Neste protocolo suíno foi possível confirmar que o ácido e-aminocapróico e o cloridrato de oxitetraciclina são drogas que efetivamente poderiam ser utllizadas em protocolos iontoforéticos. A determinação da concentração do ácido hialurônico neste experimento foi prejudicada por se tratar de um complexo polissacarídeo. Assim, acreditamos que estudos complementares utilizando outras técnicas mais sensíveis de quantificação de fármacos devem ser realizadas com este intuito no futuro. A avaliação do efeito da aplicação iontoforética do EACA, ácido hialurônico e cloridrato de oxitetraciclina em modelo experimental murino (camundongos portadores de hemofília A), foi realizada através de avaliação histológica que avaliou a área de lesão proliferativa correspondente à articulação tratada e não tratada. Embora em nenhum dos grupos estudados os resultados entre os animais tratados e não tratados tenha evidenciado uma diferença estatisticamente significativa, foi possível notar uma tendência de melhora sempre que as medicações foram administradas através da iontoforese. Desta forma, o princípio da aplicação assim como as questões práticas da terapêutica iontoforética foram reconhecidas como uma possível via de administração em condições clínicas apresentadas pelos pacientes hemofílicos. Novos estudos precisam ser realizados a fim de que sejam observados o comportamento farmacológico e as doses terapêuticas ideais das drogas utilizadas para o uso através de iontoforese / Abstract: Iontophoresis is technique of transferring drugs by an electric flow. The therapeutic benefits of introducing drugs by iontophoresis include lowering of systematic side effects and the local action of medication with a larger concentration into the damage area, where its action is more effective and prolonged. Besides that, the hemophilic patients are avoided to get venous puncture or an injection into their joint. The use of iontophoresis takes the idea of direct intervention in acute hemarthroses and chronic synovitis in one non aggressive way. First of all we created a protocol in association with Nuclear Medicine Department of the Clinical Hospital of UNICAMP and we standardize cintilographic experiments in humans to evaluate the transdermal dynamics delivered by iontophoresis, confirming iontophoretics mechanism. Once it proved the iontophoretic mechanism, we evaluate in a swine experimental model the behavior of drugs with potential use in hemophilia (e-aminocaproic acid during the acute episodes of hemarthroses; hyaluronic acid and oxitetracycline clorhydrate to treat chronic cases) by electrospray ionization mass spectrometry. The use of haemostatic drugs during the acute treatment of hemarthroses, besides the treatment of chronic synovitis, allows in long and short period of time, once recover faster of the joints also reduce the final consumption of replacement products. In swine protocol, we observed that e-aminocaproic acid and oxitetracycline clorhydrate are drugs which may actually cause and be used in iontophoretics¿s protocols. However new complementary studies are necessary to make possible the use of hyaluronic acid, once it¿s a large polissacaride. We believe that others studies using different methods more sensitive of drug quantifications should be used with this purpose of accomplishment in the future. The evaluation of the iontoforetic application¿s effect of these drugs in murino¿s experimental models (knockout mice with hemophilia A) was performed by the histologic analysis, showing that in both groups (EACA and OTC) iontophoretic treatment resulted in a lower average of damage when comparing the treated limb and the one not treated. / Mestrado / Clinica Medica / Mestre em Clinica Medica

Abstract The aim of the study was to describe the counselling of haemophiliacs and their families carried out by health care personnel and to chart health care personnel's counselling competence. Professional competence refers to the knowledge, skills, capabilities and attitudes required in practice.The study was carried out in two phases. The goal of the first phase was to generate information about the professional counselling carried out as well as to estimate the counselling competence of the health care personnel. The goal of the second phase was to generate information about the health care personnel's counselling competence in order to develop professional education and the care and rehabilitation of haemophiliacs. In the study, health care personnel consisted of bioanalysts, physical therapists, doctors, radiographers and nurses. The method used in the study was methodological triangulation. The first phase consisted of observing (n = 10) patient and family counselling and interviewing the patients (n = 10), families (n = 7) and health care personnel (n = 7) participating in the study. The data were analysed by content analysis. In the second phase a questionnaire to the health care personnel (n = 318) working in specialised care in the Departments of Internal Medicine and Paediatrics was carried out using a Haemophilia scale (HFS) developed to estimate professional counselling competence. The data were analysed by using SPSS 11.5 statistical software by looking at descriptive statistics, correlation coefficients and other statistical methods. Concept validity and the structure of the scale were looked at by using explorative factor analysis. The study shows that the counselling of haemophilia patients consisted of securing home treatment and encouraging a normal way of life. Family counselling meant support for facing the changes in life, accepting responsibility and adapting to the present life situation. Considering all the answers (n = 304), 3% were correct regarding the disease and its care, 1% regarding responsibility and decision-making, 27% regarding trust and support, 26% regarding intellectual attitudes and 11% regarding the limitations of exercise. Sixty percent of the respondents would leave the haemophiliac patient completely without pharmaceutical treatment, while 49% were aware of using intravenous coagulation treatment in order to stop the bleeding. The health care personnel's knowledge of counselling and haemophilia and its treatment was insufficient. The needs and learning abilities of the person being counselled were not always taken into account, and to give psychosocial support was delegated to other professionals. Accepting responsibility for the treatment and deciding upon social support was inconsistent. Counselling related to being a carrier of haemophilia was slight. Sixty-six percent of the health care personnel considered their professional counselling capabilities as being insufficient to counsel haemophiliacs and their families. Based on the results, attention should be paid to the basic education of health care personnel, and enough supplementary education on both haemophilia and counselling should be offered. Information on haemophilia should be increased to reduce prejudices. Cost-effectiveness and standard procedures for compensation should be focused on. The counselling of haemophiliacs and their families should be developed and centralized nationally in order to enable the development of expertise. The results benefit education as well as the development of nursing care of other rare and hereditary diseases. / Tiivistelmä Tutkimuksen tarkoituksena oli kuvata terveydenhuoltohenkilöstön toteuttamaa ohjausta hemofiliaa sairastaville ja heidän perheillensä ja selvittää terveydenhuoltohenkilöstön ohjausvalmiuksia siihen. Valmiuksilla tarkoitetaan ammatin harjoittamisen edellyttämiä tietoja, taitoja, kykyjä ja asenteita.Tutkimus toteutettiin kaksivaiheisena. Ensimmäisen vaiheen tavoitteena oli tuottaa tietoa toteutetusta ohjauksesta ja mittari terveydenhuoltohenkilöstön ohjausvalmiuksien mittaamiseksi. Toisen vaiheen tavoitteena oli tuottaa tietoa terveydenhuoltohenkilöstön ohjausvalmiuksista alan koulutuksen ja hemofiliaa sairastavien hoidon ja kuntoutuksen kehittämiseksi. Terveydenhuoltohenkilöstöllä tarkoitetaan bioanalyytikoita, fysioterapeutteja, lääkäreitä, röntgenhoitajia ja sairaanhoitajia. Lähestymistapana tutkimuksessa oli metodologinen triangulaatio. Ensimmäisessä vaiheessa havainnoitiin (n = 10) potilas- ja perheohjausta ja haastateltiin ohjaukseen osallistuneet potilaat (n = 10), perheet (n = 7) ja terveydenhuoltohenkilöstö (n = 7). Aineistot analysoitiin sisällön analyysillä. Toisessa vaiheessa toteutettiin kysely erikoissairaanhoidossa sisätautien ja lasten klinikoilla työskentelevälle terveydenhuoltohenkilöstölle (n = 318) ohjausvalmiuksien mittaamiseksi ensimmäisen vaiheen tulosten perusteella kehitetyllä Hemofiliaohjausmittarilla (HFM). Aineisto analysoitiin SPSS 11.5 tilasto-ohjelmalla. Analysoinnissa käytettiin tilastollisia tunnuslukuja, korrelaatiokertoimia ja muita tilastollisia menetelmiä. Käsitevaliditeettia ja mittarin rakennetta tarkasteltiin eksploratiivisen faktorianalyysin avulla. Hemofiliaa sairastavan ohjaus oli sisällöltään kotihoidon varmistamista ja normaaliin elämään kannustamista. Perheohjaus oli elämänmuutosten kohtaamisen, vastuun kantamisen ja elämäntilanteeseen sopeutumisen tukemista. Terveydenhuoltohenkilöstön tiedot ohjauksesta ja hemofiliasta sekä sen hoidosta olivat puutteelliset. Kaikista vastauksista (n = 304) tautiin ja hoitoon liittyviä oikeita vastauksia oli 3 %, vastuuseen ja päätöksentekoon 1 %, luottamukseen ja tukeen 27 %, tiedollisiin asenteisiin 26 % ja liikunnan rajoittamiseen 11 %. Ilman lääkehoitoa hemofiliaa sairastavan jättäisi 60 % terveydenhuoltohenkilöstöstä ja 49 % tiesi suonensisäisestä hyytymistekijähoidosta verenvuodon tyrehdyttämiseksi. Ohjattavan ja perheen tarpeita ja oppimiskykyä ei aina huomioitu ja psykososiaalisen tuen antaminen siirrettiin muille ammattilaisille. Vastuun kantaminen sekä yhteiskunnan tukimuodoista päättäminen oli ristiriitaista. Hemofilian kantajuuteen liittyvä ohjaus oli vähäistä. Terveydenhuoltohenkilöstöstä 66 % piti ohjaustaitojaan riittämättöminä hemofiliaa sairastavien ja heidän perheidensä ohjaamiseen. Tulosten perusteella terveydenhuoltohenkilöstön peruskoulutukseen tulisi kiinnittää huomiota ja tarjota riittävästi täydennyskoulutusta sekä hemofiliasta että ohjauksesta. Tiedotuksen lisääminen hemofiliasta ennakkoluulojen vähentämiseksi olisi tarpeen. Kustannustehokkuuteen ja yhtenäisiin Kelan korvauskäytäntöihin tulisi kiinnittää huomiota. Hemofiliaa sairastavien ja heidän perheidensä ohjausta tulisi kehittää ja keskittää koko valtakunnan tasolla ja mahdollistaa siten asiantuntijuuden kehittyminen. Tuloksia voidaan hyödyntää koulutuksessa ja myös muiden harvinaisten ja periytyvien sairauksien hoitotyön kehittämisessä.