Inherited Blood Disorders

Overview & Synopsis

Molecular characterization of hemoglobin has enabled a deeper understanding of pathogenesis and the development of therapeutic options. Mutations in globin genes disrupt transcription, splicing, and protein stability, leading to functional disorders. Standard measures such as transfusions, iron chelation, and replacement of coagulation factors remain necessary but symptomatic. The development of gene therapies and genome-editing technologies (e.g., CRISPR/Cas9) opens the possibility of causal treatment. Diagnostic approaches have advanced considerably. Classical methods, including hemoglobin electrophoresis, HPLC, and isoelectric focusing, remain fundamental but are increasingly complemented by genomic technologies such as next-generation sequencing, which enables early diagnosis, mutation profiling, and prenatal screening. In the treatment of sickle cell anemia, new drugs have been introduced that reduce vaso-occlusive crises and stabilize patients. Hematopoietic stem cell transplantation remains the only established curative option, though it is limited by donor availability and associated risks. In β-thalassemia, molecular diagnostics and optimization of iron metabolism significantly improve prognosis, while nutritional support is becoming an important part of personalized care. Technological advances, including automated analyzers and digital platforms, further strengthen diagnostic precision. In obstetrics, multidisciplinary approaches enhance the management of postpartum hemorrhage, which remains the leading cause of maternal mortality worldwide.