Clinical and genetic analysis of a patient with Hb Ottawa in conjunction with β-thalassemia
10.3760/cma.j.issn.1003-9406.2019.11.019
- VernacularTitle: 异常血红蛋白(Hb Ottawa)合并β-地中海贫血的临床表型分析
- Author:
Xiaoxia MA
1
;
Zekun CAI
2
;
Yanyan PENG
1
;
Jinxia MA
1
;
Jing ZHENG
1
;
Genzhong CAI
1
Author Information
1. Shantou Central Hospital, Shantou, Guangdong 515041, China
2. The Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong 515000, China
- Publication Type:Clinical Trail
- Keywords:
Abnormal hemoglobin;
Hb Ottawa;
β
-thalassemia;
Clinical phenotype
- From:
Chinese Journal of Medical Genetics
2019;36(11):1130-1132
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the hematological characteristics of a patient with Hb Ottawa in conjunction with β-thalassemia.
Methods:Peripheral blood samples from the proband and her parents were collected and subjected to red blood cell analysis and hemoglobin electrophoresis. Genotypes of α- and β-globin genes were also analyzed.
Results:The proband and her mother were both heterozygotes for Hb Ottawa and β-thalassemia variant IVS II-654, and presented with typical β-thalassemia trait featuring hypochromic microcytic anemia. An abnormal hemoglobin band was detected upon electrophoresis.
Conclusion:Co-existence of Hb Ottawa and β-thalassemia may not aggravate the phenotype.
