[两种罕见异常血红蛋白的血液学分析与诊断]

[Hematological Analysis and Diagnosis of Two Rare Abnormal Hemoglobin].

作者信息

Wang Ji-Cheng, Guo Hao, Huang Hua-Jie, Yuan Teng-Long, Yao Cui-Ze, Qin Dan-Qing, DU Li

机构信息

Medical Genetics Center, Key Laboratory of Metabolic and Genetic Disease in Women and Children, Guangdong Women and Children Hospital, Guangzhou 511442, Guangdong Province, China.

Medical Genetics Center, Key Laboratory of Metabolic and Genetic Disease in Women and Children, Guangdong Women and Children Hospital, Guangzhou 511442, Guangdong Province, China,E-mail:

出版信息

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Dec;28(6):2028-2032. doi: 10.19746/j.cnki.issn.1009-2137.2020.06.038.

DOI:10.19746/j.cnki.issn.1009-2137.2020.06.038

PMID:33283737

Abstract

OBJECTIVE

To analyze the hematological characteristics of Hb Broomhill and Hb Hornchurch, and prenatal diagnosis should be carried out in two families.

METHODS

RBC parameters and hemoglobin electrophoretogram were analyzed on the peripheral blood of all patients, and amniotic fluid was collected for prenatal diagnosis. PCR-Flow fluorescent hybridization and Sanger sequencing were performed for gene diagnosis of thalassemia.

RESULTS

Three cases of Hb Broomhill were detected, including 2 cases with common SEA α-thalassemia, which was characterized by hypochromic microcytic mild anemia, the capillary electrophoregram revealed a tiny shoulder peak before the Hb A peak; 1 case was diagnosed as Hb Hornchurch combined with β-thalassemia, which also showed mild anemia. Hemoglobin electrophoretogram showed an abnormal hemoglobin variant peak at Hb A zone.

CONCLUSION

The carriers of Hb Broomhill and Hb Hornchurch do not have microcytic hypochromic anemia, which do not aggravate the hematological symptoms, such as anemia when being combined with thalassemia of the same type.

摘要