Hasil untuk "Diseases of the blood and blood-forming organs"

Simon Leistikow, Thomas Miro, Adrian Kummerländer et al.

Background and Objective: Hemodynamic analysis of blood flow through arteries and veins is critical for diagnosing cardiovascular diseases, such as aneurysms and stenoses, and for investigating cardiovascular parameters, such as turbulence and wall shear stress. For subject-specific analyses, the anatomy and blood flow of the subject can be captured non-invasively using structural and 4D Magnetic Resonance Imaging (MRI). Computational Fluid Dynamics (CFD), on the other hand, can be used to generate blood flow simulations by solving the Navier-Stokes equations. To generate and analyze subject-specific blood flow simulations, MRI and CFD have to be brought together. Methods: We present an interactive, customizable, and user-oriented visual analysis tool that assists researchers in both medicine and numerical analysis. Our open-source tool is applicable to domains such as CFD and MRI, and it facilitates the analysis of simulation results and medical data, especially in hemodynamic studies. It enables the creation of simulation ensembles with a high variety of parameters. Furthermore, it allows for the visual and analytical examination of simulations and measurements through 2D embeddings of the similarity space. Results: To demonstrate the effectiveness of our tool, we applied it to three real-world use cases, showcasing its ability to configure simulation ensembles and analyse blood flow dynamics. We evaluated our example cases together with MRI and CFD experts to further enhance features and increase the usability. Conclusions: By combining the strengths of both CFD and MRI, our tool provides a more comprehensive understanding of hemodynamic parameters, facilitating more accurate analysis of hemodynamic biomarkers.

Zequan Liang, Ruoyu Zhang, Wei Shao et al.

Accurate and generalizable blood pressure (BP) estimation is vital for the early detection and management of cardiovascular diseases. In this study, we enforce subject-level data splitting on a public multi-wavelength photoplethysmography (PPG) dataset and propose a generalizable BP estimation framework based on curriculum-adversarial learning. Our approach combines curriculum learning, which transitions from hypertension classification to BP regression, with domain-adversarial training that confuses subject identity to encourage the learning of subject-invariant features. Experiments show that multi-channel fusion consistently outperforms single-channel models. On the four-wavelength PPG dataset, our method achieves strong performance under strict subject-level splitting, with mean absolute errors (MAE) of 14.2mmHg for systolic blood pressure (SBP) and 6.4mmHg for diastolic blood pressure (DBP). Additionally, ablation studies validate the effectiveness of both the curriculum and adversarial components. These results highlight the potential of leveraging complementary information in multi-wavelength PPG and curriculum-adversarial strategies for accurate and robust BP estimation.

José María Buades Rubio, Gabriel Moyà-Alcover, Antoni Jaume-i-Capó et al.

In this paper, we present a human-based computation approach for the analysis of peripheral blood smear (PBS) images images in patients with Sickle Cell Disease (SCD). We used the Mechanical Turk microtask market to crowdsource the labeling of PBS images. We then use the expert-tagged erythrocytesIDB dataset to assess the accuracy and reliability of our proposal. Our results showed that when a robust consensus is achieved among the Mechanical Turk workers, probability of error is very low, based on comparison with expert analysis. This suggests that our proposed approach can be used to annotate datasets of PBS images, which can then be used to train automated methods for the diagnosis of SCD. In future work, we plan to explore the potential integration of our findings with outcomes obtained through automated methodologies. This could lead to the development of more accurate and reliable methods for the diagnosis of SCD

Aida M. S. Salem, Takwa Mohamed AbdEltwwab, Hanan Hosni Moawad et al.

<b>Background/Objectives</b>: Hemophilia A is an X-linked recessive illness produced by a deficiency of coagulation factor VIII. This study aimed to evaluate serum vitamin D in hemophilic pediatric patients and its correlation with joint health and quality of life. <b>Methods</b>: This case-control study was performed on ninety children under the age of 18 years old and separated into two groups: study group of 45 children with hemophilia A and control group of 45 healthy children at an outpatient pediatric hematology clinic at the Beni-Suef University hospitals. <b>Results</b>: Serum vitamin D levels were significantly lower in hemophilia A patients than in controls (<i>p</i> < 0.001). The level of serum vitamin D was deficient in 38 (84.4%), insufficient in 4 (8.8%) and sufficient in 3 (6.6%) in the study group while deficient in 8 (17.7%), insufficient in 16 (35.5%) and sufficient in 21 (46.6%) in the control group. Total hemophilia joint health score (HJHS) had a significant negative correlation with serum total calcium (R = −0.31, <i>p</i> = 0.038) and serum vitamin D level (R = −0.974, <i>p</i> < 0.001) while also positively correlated with alkaline phosphatase (R = 0.834, <i>p</i> < 0.001). A quality-of-life index that is specific to total hemophilia (Haemo-Qol/Haem-A-QoL) had a significant positive correlation with total hemophilia joint health score (HJHS) (R = 0.934, <i>p</i> < 0.001) and negatively correlated with serum vitamin D level (R = −0.924, <i>p</i>-value lower than 0.001), alkaline phosphatase (R = 0.842, <i>p</i> < 0.001), and severity of hemophilia (R = 0.67, <i>p</i> < 0.001). <b>Conclusions</b>: patients with hemophilia A had lower vitamin D levels than healthy controls. The severity of vitamin D deficiency is related positively to (HJHS) hemophilia and quality of life hemophilia cases according to Haemo-QoL.

LWA Menezes, VR Ferrarez, RM Junior et al.

Introdução: A Leucemia de Células Pilosas (Tricoleucemia) é uma rara neoplasia linfoproliferativa crônica de células B, corresponde a 2% de todas as leucemias. Em geral apresenta curso indolente e é caracterizada pela presença de linfócitos com projeções citoplasmáticas finas, conhecidas como células pilosas. Os sintomas mais comuns incluem fadiga, fraqueza, esplenomegalia, pancitopenia e infecções oportunistas recorrentes. O diagnóstico é baseado na morfologia das células em sangue periférico ou da medula óssea, que caracteristicamente apresentam projeções citoplasmáticas, e na positividade de marcadores CD11c, CD103, CD123 e CD25 pela imunofenotipagem. Objetivo: Relatar um caso de um paciente idoso com pancitopenia, sendo diagnosticado como portador de Leucemia de Células Pilosas. Relato de caso: Paciente de 80 anos, masculino, previamente hígido, sem comorbidades, internado por adinamia e constipação, exame físico sem esplenomegalia e o hemograma admissional evidenciou pancitopenia, com Hb de 10,2 g/dL; Leucócitos de 2330 /mm3 (Sg 1470/mm3 e Li 820/ mm3) e Plaquetas 27.000/mm3. O paciente realizou mielograma e imunofenotipagem para investigação diagnóstica. O mielograma revelou medula óssea hipocelular apresentando disteritropoiese discreta e predominância de linfócitos maduros, além de formas anômalas, sugerindo tricoleucócitos. A imunofenotipagem por citometria de fluxo revelou um perfil imunofenotípico positivo para marcadores de Leucemia de Células Pilosas: Kappa, CD19, IgM forte, CD20 forte, CD25, CD11c, CD103, CD123, CD79b forte, CD200, CD81 e CD45. O perfil imunofenotípico foi negativo para CD3, CD4, CD8, CD56, CD10, ROR1, CD5, CD11b, CD13, CD33, CD34, CD43, CD23 e Lambda. A conclusão foi compatível com o diagnóstico de Leucemia de Células Pilosas. Com estabilidade clínica e hemodinâmica, o paciente recebeu alta com encaminhamento ambulatorial para um serviço de referência em Hematologia. Discussão: A Tricoleucemia frequentemente se apresenta com pancitopenia devido à infiltração da medula óssea por células pilosas. Mais frequente em homens, e a partir da 5°década de vida, pode mimetizar ou coexistir com outras doenças hematológicas clonais e associar-se a desordens auto-imunes. O tratamento padrão para a doença inclui análogos de purina, como cladribina e pentostatina, que demonstram altas taxas de resposta e prolongam a sobrevida livre de doença. A combinação com rituximabe é uma abordagem terapêutica que vem ganhando destaque e sendo cada vez mais aplicada na prática clínica. Para pacientes que apresentam doença refratária ou recidivante, novas opções estão disponíveis, incluindo inibidores de BRAF, inibidores de MEK e terapias direcionadas. Resposta completa pode ser alcançada em 80 a 85% dos pacientes e mais de 90% tem sobrevida global estimada em 10 anos. Conclusão: A Leucemia de Células Pilosas de forma clássica é um distúrbio linfoproliferativo crônico e indolente. Diante de um paciente com pancitopenia, podemos estar diante de patologias variadas, clonais e não clonais, bem como reacionais, de base imunológicas ou como efeito de tratamentos variados. É imprescindível anamnese detalhada, laboratório e avaliação de medula óssea para excluir doenças neoplásicas.

GS Azevedo, GS Azevedo, EG Paula et al.

Objetivo: Descrever caso clínico raro de um paciente diagnosticado com Linfoma de Hodgkin Clássico (LHC) do subtipo rico em linfócitos de predominância esplênica. Método: As informações clínicas e laboratoriais foram obtidas por meio de revisão do prontuário, registros fotográficos dos métodos diagnósticos aos quais o paciente foi submetido e revisão de literatura em base de dados. Resultado: Sexo masculino, 65 anos, diabético, com histórico de infarto agudo do miocárdio, insuficiência cardíaca de ejeção reduzida, doença pulmonar obstrutiva crônica (DPOC) e doença arterial obstrutiva periférica foi encaminhado ao serviço do HC-UFU para investiação de pancitopenia. No exame clínico destaca-se o baço palpável (classificação Boyd II). A tomografia de tórax apontou aumento dos linfonodos mediastinais, sem alterações de forma e textura, e a tomografia de abdome evidenciou esplenomegalia e lesão nodular focal esplênica. Durante a internação, paciente com sucessivos processos infecciosos. Após melhora do quadro com antibioticoterapia, paciente foi submetido à esplenectomia. A biópsia sugestiva de linfoma foi acompanhada de visualização microscópica de proliferação linfoide pleomórfica compatível com linfoma, periesplenite hialina e arteriosclerose de Monckeberg. O resultado de imuno-histoquímica atestou negatividade de CD20, CD3, BCL6, CD10, MUM1, Vírus Epstein Barr, proteína ALK, BCL2 e ciclina D1. Os seguintes marcadores CD30, CD15 foram positivos e Ki67 positivo em 90%. Os resultados da biópsia foram compatíveis com linfoma de Hodgkin clássico, variante rica em linfócitos. Contudo, 5 dias após a efetivação do resultado diagnóstico, o paciente veio a óbito. Discussão: O LHC raramente é diagnosticado por esplenomegalia, apesar da elevada incidência de diagnósticos de LH. Conclusão: O estudo do caso de LHC rico em linfócitos de predominância esplênica permite o reconhecimento da variedade de incidência do LHC na prática médica. O reconhecimento da raridade do caso contribui para o diagnóstico e tratamento precoces, na tentativa de reduzir a morbimortalidade em pacientes oncológicos.

Jean Pierre Ndabakuranye, Anushi E. Rajapaksa, Genia Burchall et al.

As a biomarker for liver disease, bilirubin has been utilized in prognostic scoring systems for cirrhosis. While laboratory-based methods are used to determine bilirubin levels in clinical settings, they do not readily lend themselves to applications outside of hospitals. Consequently, bilirubin monitoring for cirrhotic patients is often performed only intermittently; thus, episodes requiring clinical interventions could be missed. This work investigates the feasibility of measuring bilirubin concentration in whole porcine blood samples using dual-wavelength transmission measurement. A compact and low-cost dual-wavelength transmission measurement setup is developed and optimized to measure whole blood bilirubin concentrations. Using small volumes of whole porcine blood (72 μL), we measured the bilirubin concentration within a range corresponding to healthy individuals and cirrhotic patients (1.2-30 mg/dL). We demonstrate that bilirubin levels can be estimated with a positive correlation (R-square > 0.95) and an accuracy of +/- 1.7 mg/dL, with higher reliability in cirrhotic bilirubin concentrations (> 4 mg/dL), critical for high-risk patients. The optical and electronic components utilized are economical and can be readily integrated into a miniature, low-cost, and user-friendly system. This could provide a pathway for point-of-care monitoring of blood bilirubin outside of medical facilities.

Qianhan Zeng, Jing Zhou, Ying Ji et al.

Computed tomography (CT) has been a powerful diagnostic tool since its emergence in the 1970s. Using CT data, three-dimensional (3D) structures of human internal organs and tissues, such as blood vessels, can be reconstructed using professional software. This 3D reconstruction is crucial for surgical operations and can serve as a vivid medical teaching example. However, traditional 3D reconstruction heavily relies on manual operations, which are time-consuming, subjective, and require substantial experience. To address this problem, we develop a novel semiparametric Gaussian mixture model tailored for the 3D reconstruction of blood vessels. This model extends the classical Gaussian mixture model by enabling nonparametric variations in the component-wise parameters of interest according to voxel positions. We develop a kernel-based expectation-maximization algorithm for estimating the model parameters, accompanied by a supporting asymptotic theory. Furthermore, we propose a novel regression method for optimal bandwidth selection. Compared to the conventional cross-validation-based (CV) method, the regression method outperforms the CV method in terms of computational and statistical efficiency. In application, this methodology facilitates the fully automated reconstruction of 3D blood vessel structures with remarkable accuracy.

Seungyeon Kim, Wheesung Lee, Sung-Ho Ahn et al.

Accurate prediction of cerebral blood flow is essential for the diagnosis and treatment of cerebrovascular diseases. Traditional computational methods, however, often incur significant computational costs, limiting their practicality in real-time clinical applications. This paper proposes a graph neural network (GNN) to predict blood flow and pressure in previously unseen cerebral vascular network structures that were not included in training data. The GNN was developed using clinical datasets from patients with stenosis, featuring complex and abnormal vascular geometries. Additionally, the GNN model was trained on data incorporating a wide range of inflow conditions, vessel topologies, and network connectivities to enhance its generalization capability. The approach achieved Pearson's correlation coefficients of 0.727 for pressure and 0.824 for flow rate, with sufficient training data. These findings demonstrate the potential of the GNN for real-time cerebrovascular diagnostics, particularly in handling intricate and pathological vascular networks.

EMFG Azevedo, PL Brito, LFS Gushiken et al.

Several diseases and pathological events incur intravascular hemolysis (IVH), a pathophysiological mechanism characterized by the destruction of red blood cells and the release of hemoglobin (Hb) and heme into the circulation. Hemolytic diseases, such as sickle cell disease (SCD), result in chronic inflammation and vascular damage due to the accumulation of plasma Hb and heme, which overload the homeostatic defense system. Hemolytic disorders are often associated with dysregulated angiogenic processes, contributing to complications that include proliferative retinopathy, pulmonary hypertension, leg ulcers and neovascularization of ischemic tissues. However, the role of hemolytic events in generating angiogenic factors and mechanisms is unclear. Therefore, the aim of this study was to investigate the effects of hemolysis on neovascularization and angiogenic parameters in an in vivo experimental model of IVH. C57BL/6J mice were subjected to chronic IVH, induced by the administration of low doses of phenylhydrazine (LDPHZ; 10 mg/kg.day i.p twice a week) for 4 weeks, while control mice (CON) received saline at the same frequency and during the same experimental period. Blood samples were collected 48 hours and plasma separated after the last induction. Matrigel® plugs pre-inoculated with 50 μL plasma from mice subjected to hemolysis, or not, were injected subcutaneously in mice for evaluation of neovascularization. Chronic IVH significantly increased plasma vascular endothelial growth factor (VEGF) levels (p = 0.04; n = 5) and liver VEGF expression (p = 0.02; n = 4) compared to saline mice. No significant differences were found in other angiogenic factors evaluated. Furthermore, factors present in the plasma of mice subjected to chronic IVH stimulated neovascularization and accelerated the formation of new vessels, as demonstrated by a significant increase in Hb levels quantified in the plug (p = 0.04; n = 5), compared to control plugs. Concurrently with hemolysis induction, an experimental group received treatment with hydroxyurea (LDPHZ+HU; 50 mg/kg.day i.p. five times a week) during the 4 weeks. LDPHZ+HU mice presented a trend towards increased VEGF protein expression in the liver (p = 0.06; n = 4) and the plasma factors of these HU treated mice reduced (although not significantly) Matrigel-plug neovascularization, when compared to neovascularization induced by LDPHZ plasma (p = 0.06; n = 5). An in vivo wound healing assay was also performed on the dorsal skin of mice subjected to IVH and treated or not with HU (n = 2). Preliminary results showed that wound healing was slower in the LDPHZ group when compared to the CON group, while treatment with HU improved the wound-healing process. Therefore, this study provides important perspectives for understanding the angiogenic mechanisms associated with IVH and may contribute to the development of therapies aimed at modulating neovascularization and minimizing complications associated with dysregulated angiogenic processes in patients with clinical complications of hemolytic diseases. Funding: FAPESP.

EAS Moraes, HC Moura, JCS Junior et al.

Objetivos: Descrever as principais reações adversas relacionadas à doação de sangue, assim como identificar o perfil do doador e elencar as características do doador de sangue que podem favorecer estes eventos. Material e métodos: Estudo descritivo, documental e de abordagem quantitativa com dados extraídos de fontes secundárias (software do serviço) de um banco de sangue privado no período de janeiro a junho de 2023. Resultados: No período do estudo foram realizadas 11.489 doações de sangue, em que 94,5% foi de sangue total. As reações adversas aconteceram em 36 doações, que representou o índice de 0,3%, e todos doadores eram de sangue total. A reação vaso vagal foi o único tipo de evento adverso identificado, cujas principais manifestações clínicas foram: hipotensão, náuseas, vômitos, sudorese, tontura e palidez. A mediana de idade desses doadores foi de 25 anos (17 a 59 anos) e o sexo feminino representou 72% da amostra. Quanto à frequência de doação, 64% eram doadores de primeira vez, 30% esporádico e 6% de repetição, e o principal motivo da doação foi a reposição de estoque de sangue (58%). Discussão: As doações de sangue geralmente são simples e seguras, e ocorrem sem qualquer tipo de intercorrência. Porém, doadores podem apresentar reações adversas (RAs) durante ou após a doação de sangue com gravidade variada. A maioria das RAs são leves, como as relacionadas à flebotomia, mas outras podem levar a desfechos clínicos mais complexos, como reações vaso-vagais, que favorecem à diminuição da probabilidade de doação subsequente. Por isso, a importância de conhecer o perfil das RAs para implantação de medidas que atenuem a sua ocorrência. Os resultados do estudo evidenciaram uma incidência de 0,3% de RAs no período analisado e as mulheres, jovens, em sua primeira doação de sangue foi o perfil mais acometido em concordância com a literatura. A reação vaso vagal foi o tipo de RA mais comum e medidas preventivas podem ser instituídas com intuito de reduzir a sua ocorrência e incentivar a maior frequência de doadores de repetição. Conclusão: Doadores de primeira vez, jovens e do sexo biológico feminino parecem apresentar maior risco de RAs à doação de sangue, apesar do índice ser baixo. O monitoramento sistemático da ocorrência das RAs é fundamental para minimizar as complicações da doação de sangue e favorecer o retorno desse doador ao banco de sangue.

Victor H. Aristizabal-Tique, Marcela Henao-Perez, Diana Carolina Lopez-Medina et al.

In this work, a preliminary study of proof-of-concept was conducted to evaluate the performance of the thermographic and blood perfusion data when emotions of positive and negative valence are applied, where the blood perfusion data are obtained from the thermographic data. The images were obtained for baseline, positive, and negative valence according to the protocol of the Geneva Affective Picture Database. Absolute and percentage differences of average values of the data between the valences and the baseline were calculated for different regions of interest (forehead, periorbital eyes, cheeks, nose and upper lips). For negative valence, a decrease in temperature and blood perfusion was observed in the regions of interest, and the effect was greater on the left side than on the right side. In positive valence, the temperature and blood perfusion increased in some cases, showing a complex pattern. The temperature and perfusion of the nose was reduced for both valences, which is indicative of the arousal dimension. The blood perfusion images were found to be greater contrast; the percentage differences in the blood perfusion images are greater than those obtained in thermographic images. Moreover, the blood perfusion images, and vasomotor answer are consistent, therefore, they can be a better biomarker than thermographic analysis in identifying emotions.

Suril Mehta, Nipun Kwatra, Mohit Jain et al.

The use of observed wearable sensor data (e.g., photoplethysmograms [PPG]) to infer health measures (e.g., glucose level or blood pressure) is a very active area of research. Such technology can have a significant impact on health screening, chronic disease management and remote monitoring. A common approach is to collect sensor data and corresponding labels from a clinical grade device (e.g., blood pressure cuff), and train deep learning models to map one to the other. Although well intentioned, this approach often ignores a principled analysis of whether the input sensor data has enough information to predict the desired metric. We analyze the task of predicting blood pressure from PPG pulse wave analysis. Our review of the prior work reveals that many papers fall prey data leakage, and unrealistic constraints on the task and the preprocessing steps. We propose a set of tools to help determine if the input signal in question (e.g., PPG) is indeed a good predictor of the desired label (e.g., blood pressure). Using our proposed tools, we have found that blood pressure prediction using PPG has a high multi-valued mapping factor of 33.2% and low mutual information of 9.8%. In comparison, heart rate prediction using PPG, a well-established task, has a very low multi-valued mapping factor of 0.75% and high mutual information of 87.7%. We argue that these results provide a more realistic representation of the current progress towards to goal of wearable blood pressure measurement via PPG pulse wave analysis.

Robert Peter Gale

M. Hamadani, M. Coleman, R. Boccia et al.

C. Aparicio Pérez, F. Salas Hernandez, A. C. Gonzalez Teomiro et al.

Osamu Imataki, Hiroyuki Kubo, Jun‐ichiro Kida et al.

Abdelmageed Ahmed, Alaa Nagy, Ahmed Kamal et al.

In this paper we discuss a new method for detecting leukemia in microscopic blood smear images using deep neural networks to diagnose leukemia early in blood. leukemia is considered one of the most dangerous mortality causes for a human being, the traditional process of diagnosis of leukemia in blood is complex, costly, and time-consuming, so patients could not receive medical treatment on time; Computer vision classification technique using deep learning can overcome the problems of traditional analysis of blood smears, our system for leukemia detection provides 97.3 % accuracy in classifying samples as cancerous or normal samples by taking a shot of blood smear and passing it as an input to the system that will check whether it contains cancer or not. In case of containing cancer cells, then the hematological expert passes the sample to a more complex device such as flow cytometry to generate complete information about the progress of cancer in the blood.

Rina Kagawa, Masanori Shiro

The increasing demand for personalized health care has led to the expectation that individualized quantitative evaluation of human disease states is possible. However, this has not yet been achieved at a sufficiently low cost. Our ultimate goal is to determine the most accurate distributions of blood tests commonly used in health checkups. In this study, we quantified differences between the estimated distributions based on four datasets using the lognormal distribution with three parameters and analyzed the cause of the differences. We focused on two causes of differences: the exclusion criteria and distribution used for estimation of distributions. We compared the expected values across datasets for each laboratory test. We also quantitatively evaluated differences in the shape of the estimated distribution corresponding to the exclusion criteria. We found that exclusion criteria have an important influence on the shape of the distribution for blood test values.

Mathews N, Rivard GE, Bonnefoy A

Natalie Mathews,1 Georges-Etienne Rivard,2 Arnaud Bonnefoy2 1Division of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; 2Division of Hematology-Oncology, Department of Pediatrics, CHU Sainte-Justine, Universit&eacute; de Montr&eacute;al, Montr&eacute;al, Qu&eacute;bec, H3T 1C5, CanadaCorrespondence: Natalie MathewsDivision of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, 555 University Ave, Toronto, Ontario, M5G 1X8, CanadaEmail natalie.mathews@sickkids.caAbstract: Glanzmann thrombasthenia (GT) is a rare autosomal recessive disorder of fibrinogen-mediated platelet aggregation due to a quantitative or qualitative deficit of the &alpha;IIb&beta;3 integrin at the platelet surface membrane resulting from mutation(s) in ITGA2B and/or ITGB3. Patients tend to present in early childhood with easy bruising and mucocutaneous bleeding. The diagnostic process requires consideration of more common disorders of haemostasis and coagulation prior to confirming the disorder with platelet light transmission aggregation, flow cytometry of CD41 and CD61 expression, and/or exon sequencing of ITGA2B and ITGB3. Antifibrinolytic therapy, recombinant activated factor VII, and platelet transfusions are the mainstay of therapy, although the latter may trigger formation of anti-platelet antibodies in GT patients and inadvertent platelet-refractory disease. The management of these patients therefore remains complex, particularly in the context of trauma, labour and delivery, and perioperative care. Bone marrow transplantation remains the sole curative option, although the venue of gene therapy is being increasingly explored as a future alternative for definitive treatment of GT.Keywords: bleeding disorders, inherited platelet defects, platelet aggregation, ITGA2B, ITGB3, &alpha;IIb&beta; 3