Department of Pediatrics, Faculty of Medicine, Division of Hematology/Oncology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Faculty of Associated Medical Sciences, Associated Medical Sciences Clinical Service Center, Chiang Mai University, Chiang Mai, Thailand.
Hemoglobin. 2024 Jul;48(4):261-264. doi: 10.1080/03630269.2024.2388661. Epub 2024 Aug 23.
Hemoglobin (Hb) H disease presents a wide range of clinical phenotypes, from asymptomatic to severe forms, depending on significant genetic heterogeneity. This is the first report of clinical and hematological features of the nondeletional HbH disease caused by --/αα. A baby was born to a father and a mother with -- and αα carriers, respectively. She had severe symptomatic hypochromic microcytic anemia at 2 months of age with Hb 7.8 g/dL, packed cell volume (PCV) 0.27 L/L, mean corpuscular volume (MCV) 64.3 fL, and mean corpuscular Hb (MCH) 18.3 pg. The Hb analysis using capillary electrophoresis (CE) showed Hb Bart's, HbH, and Hb CS peaks at 17.1%, 2.2%, and 1.6%, respectively. A better understanding of a patient's clinical and hematological features with --/αα is useful for hemoglobinopathy counseling for the national thalassemia controlling program.
血红蛋白 H 病的临床表现具有较大的异质性，可从无症状到严重型，这取决于其显著的遗传异质性。这是首例由--/αα导致的非缺失型血红蛋白 H 病的临床和血液学特征报告。患儿的父亲和母亲分别为--和αα携带者，于 2 月龄时因严重的症状性低色素小细胞性贫血就诊，血红蛋白为 7.8g/dL，红细胞压积为 0.27L/L，平均红细胞体积为 64.3fL，平均红细胞血红蛋白为 18.3pg。采用毛细管电泳（CE）进行的血红蛋白分析显示 Hb Bart's、HbH 和 Hb CS 峰分别为 17.1%、2.2%和 1.6%。了解--/αα患者的临床和血液学特征对于国家地中海贫血控制计划的血红蛋白病咨询具有重要意义。
