Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Khalid University, Abha, Saudi Arabia
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Khalid University, Abha, Saudi Arabia.
Ann Clin Lab Sci. 2024 Jan;54(1):114-117.
Platelet count increases are typically a reactionary response to one of a variety of pathophysiological events. We present here a case of microcytic hypochromic red blood cells and thrombocytosis in an adolescent female that we have monitored for three years. The patient was positive for alpha thalassemia trait; negative for mutation in Janus kinase 2, calreticulin, or myeloproliferative leukemia virus oncogene; and negative for reactive causes of thrombocytosis. Noticeably, a variant in atypical chemokine receptor 1 () (c.-67T>C, rs2814778) was found to be homozygous. Accordingly, the case was diagnosed as idiopathic thrombocytosis, and treatment was given to restore platelet levels to normal. Our findings highlight the possibility of an unknown association between alpha thalassemia trait and idiopathic thrombocytosis in the presence of mutation, which could be implicated in disease pathogenesis.
血小板计数增加通常是对多种病理生理事件的反应性应答。我们在此介绍一例青少年女性的小红细胞低色素性贫血和血小板增多症，我们对其进行了三年的监测。该患者为α地中海贫血特征；Janus 激酶 2、钙网蛋白或骨髓增生性白血病病毒癌基因无突变；无血小板增多症的反应性原因。值得注意的是，发现一种异常趋化因子受体 1 ()（c.-67T>C，rs2814778）为纯合子。因此，该病例被诊断为特发性血小板增多症，并给予治疗以将血小板水平恢复正常。我们的研究结果提示在存在 突变的情况下，α地中海贫血特征与特发性血小板增多症之间可能存在未知的关联，这可能与疾病发病机制有关。
