Improving Hemophilia Care in Low- and Middle-Income Countries: Addressing Challenges and Enhancing Quality of Life.

Hemophilia, a genetic bleeding disorder caused by a deficiency in clotting factors, impacts millions of people worldwide. The quality of life (QoL) for those affected remains particularly suboptimal in low- and middle-income countries (LMICs). This article delves into the unmet needs in hemophilia care and management in LMICs, spotlighting various challenges and potential strategies for improvement. One of the primary challenges in LMICs is the limited access to comprehensive care which includes a multidisciplinary approach involving hematologists, physiotherapists, psychologists, and social workers. In many LMICs, the healthcare infrastructure is insufficient to provide such integrated services, leading to fragmented care and poorer health outcomes for individuals with hemophilia. Another significant issue is the challenge of prophylactic treatment. Prophylaxis, which involves regular infusions of clotting factor concentrates to prevent bleeding episodes, is the standard of care in high-income countries. However, in LMICs, prophylactic treatment is often not feasible due to the high cost and limited availability of clotting factor concentrates. This results in a reliance on on-demand treatment, which only addresses bleeding episodes as they occur and does not prevent the long-term complications associated with frequent bleeds. Pain management is another critical area with significant gaps. Chronic pain is a common issue for individuals with hemophilia due to repeated joint bleeds leading to joint damage. In many LMICs, access to effective pain management strategies, including both pharmacological and non-pharmacological treatments, is limited. Mental health support is also a crucial yet often overlooked aspect of hemophilia care. The chronic nature of the condition, combined with frequent hospital visits and the physical limitations imposed by the disease, can lead to mental health issues such as anxiety and depression. However, mental health services are frequently under-resourced in LMICs, and there is a lack of awareness about the mental health needs of individuals with hemophilia. Caregiver support playing a crucial role in managing the day-to-day needs of individuals with hemophilia, is another vital component of hemophilia care that is often insufficient in LMICs. Education and awareness about hemophilia are also lacking in many LMICs. There is often a limited understanding of the condition among the general public and even within the medical community, leading to misdiagnoses and delayed treatment. Employment and financial support are critical issues as well. The physical limitations and frequent medical needs associated with hemophilia can make it difficult for individuals to maintain stable employment, leading to financial strain. In many LMICs, social support systems are inadequate to address these challenges. Lastly, the integration of telehealth and digital health technologies presents a promising strategy to overcome some of these challenges providing remote access to specialist care, education, and support, which is particularly valuable in regions where healthcare resources are scarce. By adopting a multifaceted approach that involves collaboration between governments, healthcare systems, international organizations, and patient advocacy groups, it is possible to address these challenges and significantly improve the QoL for individuals with hemophilia in LMICs.

Aplastic Anaemia in Pregnancy: A Case-Based Comprehensive Review of the Literature.

Aplastic anaemia (AA) is a rare and life-threatening haematologic disorder characterised by pancytopenia and bone marrow failure. Its occurrence during pregnancy is exceedingly rare, posing significant risks and management challenges for both the mother and the foetus. We present here the case of a 23-year-old female, six months pregnant, diagnosed with severe aplastic anaemia (AA), aiming to highlight the diagnostic challenges and management considerations of AA in pregnancy. Our case underscores the critical nature of considering aplastic anaemia in differential diagnosis for pregnant patients presenting with unexplained pancytopenia. Based on that, we performed a comprehensive literature review of the past 20 years of papers published in the English language identified through searches in PubMed, Medical Literature Analysis and Retrieval System Online (MEDLINE), Embase and the Cochrane Library, to provide an in-depth analysis of the current understanding of AA in pregnancy. We emphasise the necessity for cautious yet thorough investigation in such cases to avoid complications in both maternal and foetal health, focusing attention on the need for further research into safe and effective treatment protocols for managing AA in pregnancy, given the complexities introduced by the condition and its treatment on pregnancy outcomes.

Uncovering the Challenges of Rare Diseases: Insights From a Retrospective Cross-Sectional Study in Albania (2005-2022).

BACKGROUND: Diagnosing and treating rare diseases pose significant challenges within global healthcare systems due to their low prevalence and varying criteria for defining them. In Albania, the absence of a dedicated registry for rare diseases exacerbates these challenges. Recognising this gap, a retrospective cross-sectional study was conducted from January 2005 to December 2022 to analyse the incidence and prevalence of rare haematologic diseases in the country, diagnosed in the Hematology Service at the University Hospital Centre "Mother Teresa," which is the sole diagnostic center for blood diseases in Albania. This study aims to provide insights into the frequency of these diseases within the adult Albanian population and seeks to underscore the critical need for improved data collection and research in this field of healthcare. OBJECTIVE: The primary objective of this study is to assess the incidence and prevalence of rare hematologic diseases diagnosed at the Hematology Service of the University Hospital Centre "Mother Teresa" in Albania from January 2005 to December 2022. MATERIALS AND METHODS: This retrospective cross-sectional study employed a descriptive study design, focusing on the analysis of rare hematologic disease incidence and prevalence. The study was conducted exclusively at the University Hospital Centre "Mother Teresa" in Albania, the primary diagnostic center for blood-related disorders in the country. Data collection spanned a period of 18 years, from January 2005 to December 2022, encompassing patient records. Inclusion criteria encompassed adult patients aged 15 years and older who had received diagnoses of rare hematologic diseases during the specified timeframe, without specific operational definitions applied. Non-probability convenience sampling was used, including all eligible cases identified within the study's timeframe, obviating the need for formal sample size calculation. Data were extracted from the records of the Hematology Service at the University Hospital Centre "Mother Teresa," primarily using medical records containing essential patient information. Data analysis utilised software such as EXCEL 16.0 and SPSS (v. 25.0), applying descriptive statistical methods, including frequencies and percentages, to assess the incidence and prevalence of rare hematologic diseases. The study's findings were summarised and presented in a tabular format to provide a clear and concise overview of the results. RESULTS: Our study identified 64 cases of rare hematologic diseases among adults. Notably, primary myelofibrosis (MF) exhibited the highest incidence and prevalence rate, followed by Waldenström macroglobulinemia (WM) and Gaucher disease (GD) emerging as the most prevalent diagnoses after MF, with 16 and 10 cases, respectively. Several ultra-rare diseases, such as Fanconi anemia and chronic eosinophilic leukemia, were also detected, indicating a significant disease burden, while diseases such as Factor X deficiency and Niemann-Pick disease type C were exceptionally rare. CONCLUSION: Diagnosing and treating rare diseases remain formidable challenges in healthcare systems worldwide. This study underscores the need for enhanced awareness, research, and the pressing need for dedicated registries, collaborative research initiatives, and heightened attention to these conditions to enhance our understanding and management of rare hematological diseases, particularly within the Albanian healthcare context.