ABSTRACT
Background Thalassemia is an inherited blood disorder characterized by reduced hemoglobin synthesis. Aim of our study is to assess the parental knowledge of thalassemia patients and their awareness regarding treatment and preventive measures against thalassemia. Methods It is an observational study done at Ali Zaib Foundation Thalassemia Center in Sahiwal, Pakistan, in May 2019. One hundred parents were enrolled in this study and a subjective questionnaire was used to collect data through direct structured survey method over a period of 30 days. Results There were parents of 62 (62%) male patients and 38 (38%) female patients, with a median age of 8.5 ± 6.2 years. Forty-three (43%) parents were illiterate while eight (8%) parents were highly educated. Sixty-six (66%) patients were born to parents with consanguineous marriages. Eighty-two (82%) parents were aware of thalassemia, 72 (72%) were aware of the risk of thalassemia due to cousin marriages, 76 (76%) parents were aware of the importance of prenatal diagnosis (PND), while 88 (88%) believed that a PND was beneficial. Fifty-two (52%) parents knew about thalassemia treatment, 80 (80%) were aware of the importance of blood screening, and 14 (14%) patients were receiving iron chelation therapy. Seventy-eight (78%) parents were aware of thalassemia prevention. All parents believed that the public requires awareness of the importance of premarital screening and PND. Conclusion Parental awareness regarding ß-thalassemia, its treatment and prevention is fair but far from ideal. Premarital screening, provision of accurate information to the public by professionals, and adequate screening and PND of at-risk families can significantly reduce the rates of thalassemias.
ABSTRACT
Primary spinal melanoma (PSM) is a rare primary central nervous system melanoma with limited literature. A 30-year-old male presented with one year of progressive bilateral leg weakness and back pain. Physical examination revealed slightly decreased power and deep tendon reflexes of the lower extremities, decreased sensation at the level of T10, and normal anal sphincter and plantar reflexes. Magnetic resonance imaging (MRI) scan of the thoracolumbar spine revealed a hypointense lesion on T2-weighted and a hyperintense lesion on T1-weighted imaging at the level of T10 with mild extensions. The lesion was causing a mass effect on the spinal cord. The patient underwent laminectomy and near-total excision which showed a black, firm-to-hard, scarcely vascular extradural tumor extending from T10 to T11 that adhered to nerve roots. Histopathological examination and immunostaining with S-100 and Melan-A stains confirmed the diagnosis of malignant melanoma. Other imaging studies like brain computed tomography (CT) and positron emission tomography/computed tomography (PET/CT) scans, and chest X-ray were normal. On follow-up, the patient reported improvement in the power of his lower limbs with intact sensory function and sphincters. The first radiotherapy session was scheduled for six weeks postoperatively. There was no recurrence at a two-year follow-up. The possibility of a melanocytic tumor should be considered for a spinal lesion with paramagnetic properties as early surgical intervention is important for diagnosis and improved survival.
