ObjectiveTo characterize the socioeconomic and demographic aspects of sickle cell disease patients from the state of Rio Grande do Norte (RN), Northeast Brazil, and their adherence to the recommended treatment.MethodsThis cross-sectional descriptive study was performed at referral centers for the treatment of hematological diseases. One hundred and fifty-five unrelated individuals with sickle cell disease who went to these centers for outpatient visits were analyzed. All the patients, or their caregivers, were informed about the research procedures and objectives, and answered a standardized questionnaire.ResultsThe patients were predominantly younger than 12 years old, self-declared as mulatto, lived in small towns fairly distant from the referral center, and had low education and socioeconomic levels. Individuals who were ten or younger were diagnosed at an earlier age. Almost 50% of the patients were taking hydroxyurea, 91.4% reported having received pneumococcal/meningococcal vaccinations and 76.1% received penicillin as antibiotic prophylaxis. However, the majority of them reported having difficulties following the recommendations of the physicians, mainly in respect to attaining the prescribed medications and transportation to the referral centers.ConclusionThese individuals have a vulnerable socioeconomic situation that can lead to an aggravation of their general health and thus deserve special attention from the medical and psychosocial perspectives. Thus, it is necessary to improve public policies that provide Brazilian sickle cell disease patients with better access to medical treatment, living conditions, and integration into society.

Hemoglobinopathies are among the most prevalent hereditary diseases in humans. Studies in different areas of Brazil have identified the prevalence of S and C abnormal hemoglobins. The study analyzed 1,940 cord blood samples of newborns from maternity hospitals in Natal, Rio Grande do Norte State, to investigate the prevalence of abnormal hemoglobins. All samples were submitted to cellulose acetate electrophoresis using a Tris-EDTA-borate buffer at pH 8.5. Electrophoresis in agar gel pH 6.2 was performed on samples presenting abnormal hemoglobin. Some 37 (1.91%) of the newborns presented hemoglobinopathies, as follows: 29 (1.50%) sickle cell trait (Hb FAS), 6 (0.31%) heterozygous Hb C (Hb FAC), one (0.05%) homozygous Hb S (Hb FS), and one (0.05%) Hb Barts suggestive of alpha thalassemia. The results show the need to implement screening for hemoglobinopathies in the neonatal population.

βS haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5%) were identified with genotype CAR/CAR, 9 (19.1%) CAR/BEN, 6 (12.8%) CAR/CAM, 1 (2.1%) BEN/BEN, 2 (4.3%) CAR/Atp, 1 (2.1%) BEN/Atp and 1 (2.1%) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte.

Hemophilia A (HA) is a rare bleeding disorder caused by reduced or absent clotting factor VIII (FVIII) activity due to mutation in its coding gene (F8). [1] FVIII replacement is required lifelong to treat bleeding, especially in severe cases (FVIII activity below 0.01 international units [IU]/mL). [1] Besides that, up to 44% of people with HA (PwHA) may develop neutralizing antibodies against exogenous FVIII (inhibitors). [2] The presence of inhibitors predispose PwHA to severe bleeding, [3] and increased morbidity and mortality. [4,5] The treatment of choice for persistent, high-responding inhibitors is immune tolerance induction (ITI), which consists of frequent and long-term infusions of FVIII. [1] Success rates among different ITI regimens range from 60%-90%. [6]