Comprehensive Management of Thalassemic Patients Including Pregnancy
摘要
Thalassemia comprises a spectrum of inherited hematologic disorders transmitted in an autosomal recessive pattern, resulting from decreased or absent synthesis of one or more globin chains. Owing to its broad clinical heterogeneity, affected individuals may present with severe anemia necessitating regular blood transfusions, characteristic of transfusion-dependent thalassemia (TDT), or exhibit mild to minimal symptoms, as observed in non-transfusion-dependent thalassemia (NTDT), often permitting normal growth without ongoing transfusion support. These two categories require distinctly different therapeutic approaches. Iron overload represents a key complication in both TDT and NTDT, with the potential to cause significant injury to vital organs such as the heart, liver, and endocrine glands, thereby emphasizing the need for systematic surveillance to avert long-term sequelae. Advances in management strategies, including the availability of oral iron chelation therapy and non-invasive modalities for assessing iron burden, have markedly enhanced survival outcomes and overall quality of life. As a result, many patients now experience improved reproductive prospects and are increasingly able to pursue pregnancy and parenthood. This highlights the necessity for holistic management and ongoing follow-up across the continuum of care.