HBS/BETA-THALASSEMIA: SOCIODEMOGRAPHIC OF PATIENTS FROM MANAUS, AMAZONAS, BRAZIL

Sickle Beta Thalassemia (Sβ-thalassemia) is characterized by the coinheritance of the hemoglobin S allele and mutations in the β-globin genes. This condition exhibits significant clinical variability, ranging from mild to severe clinical manifestations, directly depending on the specific mutation present (β⁺ or β⁰). In Brazil, it's estimated that 15% of cases diagnosed as sickle cell disease are of the Sβ form. Painful episodes, chronic hemolysis, splenic sequestration, and similar infectious and vascular complications are frequently observed in Sβ patients. To describe the sociodemographic profile of Sβ-thalassemia patients who were followed at the Amazonas State Hematology and Hemotherapy Foundation (HEMOAM). A comprehensive array of clinical and demographic data was retrieved by meticulously reviewing existing medical records, actively pursuing new blood samples for collection, and utilizing sophisticated analytical techniques, such as high-performance liquid chromatography (HPLC) and gene sequencing, to definitively ascertain the Sβ genotype. This approach ensured the comprehensive and precise confirmation of mutations within the β-globin gene. A total of 22 patients were diagnosed with Sβ, with a predominance of females (63.6%). Of these, 20 (90.9%) were unmarried and 17 (77.3%) had no siblings. With respect to educational attainment, 5 (22.7%) had completed high school, 4 (18.2%) had incomplete primary education, 4 (18.2%) had completed primary education, and 3 (13.6%) reported no formal education. The age of the subjects ranged from 02 to 60 years (17.81 ± 16.10), while diagnostic age varied widely, from 5 months to 58 years (12.10 ± 17.39). The majority of the subjects identified as Pardo, accounting for 68.2% of the sample. The most prevalent clinical manifestation was splenomegaly, observed in 18.2% of patients. The transfusion data indicated that 18 patients (81.8%) received an annualtransfusion frequency of less than four. Despite the fact that only 22 Sβ patients are currently under observation at HEMOAM, this study demonstrated clinical and sociodemographic heterogeneity. It is evident that the findings of this study underscore the necessity for more extensive research, particularly the active pursuit of potential patients residing within the interior regions of the Amazonas state. Furthermore, the observed variation in diagnostic age serves as a crucial indicator, prompting vigilance against potential deficiencies in the early screening of the disease, particularly among thalassemia carriers. Accurate identification is paramount in such cases, necessitating molecular diagnosis due to the characteristic elevation of hemoglobin A2 levels in beta thalassemia. Early and molecular diagnosis, in conjunction with appropriate treatment, is essential to enhance patients quality of life and longevity. This study underscores the significance of implementing preventive and therapeutic measures to anticipate comorbidities associated with the patient's clinical severity, thus preventing progression to severe hemolysis, hyper transfusions, and even patient death.