**3.2. New sickle cell disease research shows improved patient outcomes**

Sickle cell disease (SCD) is one of the most frequent inherited genetic disorders in the world. It predominantly affects people of African descent as well as individuals from the Middle East, India, and Mediterranean regions [28]. It is an autosomal-recessive disease caused by a point mutation in the hemoglobin beta gene found on chromosome 11p15.5, Hb S (HBB: c.20A>T) along with or without any other abnormal Hb gene, and results in a number of health problems, for example, anemia, acute and chronic pain, infection, acute chest syndrome, pulmonary hypertension, cardiac, CNS, gastrointestinal involvement, and so on, leading to significant morbidity and mortality. Significant advances in prophylactics and therapy achieved improved survival among children with sickle cell disease, with the majority of children attaining adulthood [29]. However, the median age at death of 39 years with only 35.0% surviving beyond age 35 years was reported by the Centers for Disease Control (CDC). Sickle cell disease substantially alters renal structure and function leading to nephropathy which is not only a chronic comorbidity but is also one of the leading causes of mortality in patients with sickle cell disease [30]. Knowledge of the natural progression of the disease, as well as identification of persons at risk, allows for timely intervention and improved outcomes. The search for biomarkers for the early diagnosis of the disorder and its outcomes is an area of intense contemporary research [31]. The current understanding of the presentation, diagnostic, and therapeutic challenges in sickle cell nephropathy is presented in detail by Inusa Baba et al. in the chapter 8. Risk factors for renal impairment and acute kidney injury are reviewed in detail. In addition, data coming from established mouse models are invaluable to elucidate the pathogenesis of SCD-associated multiple organ complications and to identify targets for prevention and therapy.

The continuous and rather extensive influx of new information regarding the key features and underlying mechanisms as well as treatment options of blood disorders requires a frequent updating of this topic. The primary objective of this book is to provide the specialists involved in the clinical management and experimental research in hematological diseases with comprehensive and concise information on some important theoretical and practical developments in the biology, clinical assessment, and treatment of patients, as well as on some molecular and pathogenetic mechanisms and the respective translation into novel therapies. Specific clinical scenarios such as myeloid sarcoma or sickle cell nephropathy are also within the scope of this book. An international panel of experts provides novel insights of various aspects of hematology and contributes their experience to an update of the field.

Each chapter is a separate publication that reflects each author's views and concepts. However, this book presents an update and introduces novel insights in our current understanding of the biology and clinical presentation, the risk assessment, and therapeutic challenges in patients with hematological diseases.
