Jawed Inshal, Alam Mohammad Omer, Fatima Fasiha Bakhtawar, Johar Syeda Alisha, Shah Syed Adil Mir
Department of Internal Medicine, Dow University of Health Sciences, Karachi, Pakistan.
Sindh Medical College, Jinnah Sindh Medical University, Karachi, Pakistan.
SAGE Open Med Case Rep. 2024 Aug 16;12:2050313X241272516. doi: 10.1177/2050313X241272516. eCollection 2024.
Hemoglobin D variations are a group of hemoglobinopathies caused by mutations in the genes that control the synthesis of new globin chains. Hemoglobin D-Punjab is the most prevalent but frequently asymptomatic, it can occasionally cause mild to moderate hemolytic anemia, making diagnosis difficult and raising the risk of misdiagnosis. This article discusses a rare instance of a seventeen-year-old male in Sindh, Pakistan with iron deficiency anemia who was later found to have the Punjab variation of the hemoglobin D. The patient had signs of weakness, exhaustion, and shortness of breath, which were initially alleviated by iron supplementation but eventually became refractory. Hemoglobin electrophoresis demonstrated the distinctive hypochromic, microcytic red blood cell shape, and laboratory tests verified the presence of the Hemoglobin D-Punjab feature. The instance emphasizes how crucial it is to distinguish Hemoglobin D-Punjab from other anemias in order to guarantee proper care. This case underscores the importance of recognizing hemoglobin D-Punjab trait, to provide appropriate genetic counseling and ensure the patient's well-being. Increased awareness among healthcare professionals regarding the diverse spectrum of hemoglobinopathies is essential for accurate diagnosis and management.
血红蛋白D变异是一组由控制新珠蛋白链合成的基因突变引起的血红蛋白病。血红蛋白D-旁遮普型最为常见,但通常没有症状,偶尔会导致轻度至中度溶血性贫血,这使得诊断困难并增加了误诊风险。本文讨论了巴基斯坦信德省一名17岁男性患缺铁性贫血的罕见病例,该患者后来被发现患有血红蛋白D的旁遮普型变异。患者有虚弱、疲惫和呼吸急促的症状,最初通过补充铁剂得到缓解,但最终变得难以治疗。血红蛋白电泳显示出独特的低色素、小细胞红细胞形态,实验室检查证实了血红蛋白D-旁遮普型特征的存在。该病例强调了区分血红蛋白D-旁遮普型与其他贫血以确保正确治疗的重要性。该病例凸显了识别血红蛋白D-旁遮普型特征的重要性,以便提供适当的遗传咨询并确保患者的健康。提高医疗专业人员对血红蛋白病多样谱的认识对于准确诊断和管理至关重要。