Department of Internal Medicine, Gan Regional Hospital, Maavah Health Center, Republic of Maldives.
Department of Emergency Medicine, Chitwan Medical College, Chitwan, Nepal.
JNMA J Nepal Med Assoc. 2020 Jun 30;58(226):436-438. doi: 10.31729/jnma.5129.
Thalassemia is inherited autosomal recessive disorders characterized by reduced rate of hemoglobin synthesis due to a defect in alpha or beta globin chain synthesis. Maldives has a beta thalassemia prevalence rate of 16-18%. Classical symptoms of beta thalassemia are common on those patients who present late for blood transfusion which is common among the south Asian countries due to resource poor situation. This case is a rare case report of commonly occurring phenomenon which has been reported less among south Asian region. Reporting this case will help health worker to manage cases accordingly. A five and half year prior diagnosed case of beta thalassemia at age of 2 years and lost to follow up presented with cough, Dyspnoea, Irritability, fatigue with classic symptom of beta thalassemia. She was managed with blood transfusion and kept on continuous follow up for transfusion and iron overload management.
地中海贫血是一种常染色体隐性遗传疾病，其特征是由于α或β珠蛋白链合成缺陷导致血红蛋白合成率降低。马尔代夫的β地中海贫血患病率为 16-18%。由于资源匮乏，在南亚国家，输血是常见的，因此，那些输血不及时的β地中海贫血患者常有典型症状。本病例是一种常见现象的罕见病例报告，在南亚地区报告较少。报告此病例将有助于医务人员进行相应的病例管理。一名 5 岁半的β地中海贫血患儿在 2 岁时被诊断出来，之后失去了随访，出现了咳嗽、呼吸困难、烦躁、疲劳等症状，伴有典型的β地中海贫血症状。她接受了输血治疗，并进行了持续的随访，以管理输血和铁过载。
