血红蛋白杰克斯和血红蛋白恒温的不常见组合导致微细胞性贫血
Sirichai Srichairatanakool1, Chatree Chai-Adisaksopha1, Adisak Tantiworawit1,2
1Division of Hematology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
The American journal of case reports
|May 10, 2024
概括
血红蛋白 (Hb) Jax 和 Hb 常温的复合异性导致微细胞性贫血. 诊断包括Hb分析和DNA测序,这对于红细胞疾病的遗传咨询至关重要.
科学领域:
- 血液学 血液学 血液学
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- thalassemia和血红蛋白变体是全球常见的遗传性红细胞疾病.
- 阿尔法血症和阿尔法环球蛋白变异源于HBA2和HBA1基因的突变.
- 临床严重程度因受影响的α-环球蛋白基因数量而异,从轻度到重度的贫血.
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