Rare hematological diseases: context, insights and analysis

Abstract

Rare hematological diseases encompass a variety of conditions that affect the blood system, representing a significant challenge to both clinical practice and public health. This study, carried out through an integrative review and reflective analysis, examines the main difficulties faced in the early diagnosis and access to treatment of these diseases, as well as recent therapeutic advances, including the use of hematopoietic stem cells and gene therapies. Data analysis revealed that, despite advances, barriers related to cost and infrastructure limit accessibility to innovative treatments, especially in low- and middle-income countries. Furthermore, the lack of ongoing support for patients, both psychological and educational, was identified as a critical factor that compromises treatment adherence and, consequently, clinical results. The study concludes that the implementation of equitable public policies and the strengthening of support networks are essential to improve clinical outcomes and quality of life for patients with rare hematological diseases.