Kundrapu Sirisha, Janaki Nafiseh, Meyerson Howard J
a Department of Pathology , University Hospitals Cleveland Medical Center and Case Western Reserve University , Cleveland , OH , USA.
Hemoglobin. 2018 Jul;42(4):269-271. doi: 10.1080/03630269.2018.1523799. Epub 2019 Jan 3.
We report an individual with a compound heterozygosity for Hb D-Ibadan (HBB: c.263C>A) and Hb C (HBB: c.19G>A), a hemoglobin (Hb) combination not previously identified. The compound hemoglobinopathy was detected in a young woman during routine prenatal screening. Variant Hbs were identified and confirmed by high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) followed by Sanger DNA sequencing. Hb D-Ibadan was present in significant excess over Hb C (70.3 to 24.4%). A complete blood count (CBC) revealed moderate microcytosis with slight anemia. The history suggests the Hb combination is clinically silent. The findings indicate the compound hemoglobinopathy demonstrates thalassemia minor-like red cell indices with an unequal distribution of the variant Hbs. Comparison with other Hb D-like heterozygous conditions is reviewed.
我们报告了一名携带Hb D -伊巴丹（HBB: c.263C>A）和Hb C（HBB: c.19G>A）复合杂合子的个体，这是一种此前未被识别的血红蛋白（Hb）组合。这种复合血红蛋白病是在一名年轻女性的常规产前筛查中被检测到的。通过高效液相色谱法（HPLC）和毛细管电泳（CE），随后进行桑格DNA测序，对变异型Hb进行了识别和确认。Hb D -伊巴丹的含量显著超过Hb C（70.3%至24.4%）。全血细胞计数（CBC）显示中度小红细胞症并伴有轻度贫血。病史表明这种Hb组合在临床上没有症状。研究结果表明，这种复合血红蛋白病表现出类似轻型地中海贫血的红细胞指数，且变异型Hb分布不均。本文还综述了与其他类似Hb D杂合状态的比较。
