Wolf Alejandro, Rohr Joseph M, Amador Catalina, Starr Lois J, Hoyer James D, Ford James B
Department of Pathology and Microbiology, University of Nebraska Medical Center , Omaha , NE , USA.
Department of Pediatrics, Children's Hospital and Medical Center, University of Nebraska Medical Center , Omaha , NE , USA.
Hemoglobin. 2019 May;43(3):207-209. doi: 10.1080/03630269.2019.1634591. Epub 2019 Aug 6.
We describe here a previously unreported hemoglobin (Hb) variant, Hb Gibbon [β124(H2)Pro→Thr (: c.373C>A, p.P125T)] detected by newborn Hb screening in a term male with no family history for hemoglobinopathy or other screening abnormalities. This missense mutation produces a β-globin chain variant that was detected by high performance liquid chromatography (HPLC) methods, but is silent by capillary electrophoresis (CE). DNA sequencing studies revealed that his father was also a heterozygote for this mutation. Neither has abnormalities on complete blood count (CBC) or any symptomatology.
我们在此描述一种先前未报道的血红蛋白（Hb）变异体，即Hb长臂猿[β124(H2)脯氨酸→苏氨酸（: c.373C>A, p.P125T）]，该变异体是在一名足月男婴的新生儿Hb筛查中检测到的，该男婴无血红蛋白病家族史或其他筛查异常。这种错义突变产生了一种β-珠蛋白链变异体，通过高效液相色谱（HPLC）方法检测到，但通过毛细管电泳（CE）检测无异常。DNA测序研究显示，他的父亲也是该突变的杂合子。两人的全血细胞计数（CBC）均无异常，也没有任何症状。
