马来西亚的血红蛋白G-马卡萨尔与Hb E的复合异性特征
Roszymah Hamzah1, Ahmad Sabry Mohamad2, Norafiza Mohd Yasin3
1Hematology Department, Ampang Hospital, Ampang, Selangor, Malaysia.
Journal of blood medicine
|June 3, 2024
概括
这一病例系列报告了马来西亚四名血红蛋白G-马卡萨尔/血红蛋白E复合异性个体. 这些个人在临床上保持沉默,突出显示了对血红蛋白变异的基因查的重要性.
科学领域:
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 研究罕见的复合异质合体血红蛋白病变,特别是血红蛋白G-Makassar/血红蛋白E (Hb G-Makassar/Hb E).
- 全球有超过100万人患有Hb E,而Hb G-Makassar异常罕见.
- 检查遗传模式,包括异合体,同合体和复合异合体状态.
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