1. α 型海洋性贫血带因者 (α-thalassemia trait) 体内合成 α 链的基因缺一个,是最轻微的 α 型带因者,完全无临床症状,MCV 也正常。仅婴儿时期之血红蛋白电泳检查有 1 ~ 3 % 之 Hb-Barts (γ4),成人则完全看不出来。 2. 轻度 α 型海洋性贫血 (α-thalassemia minor) 此类患者大都无症状,少数患...
There are also maternal morbidities associated with carrying a hydropic fetus. This condition arises from inheritance of alpha zero thalassemia from each parent. Genetic prenatal testing schemes are designed to detect couples at risk of pro- ducing a fetus with this syndrome.Alpha thalassemia trait...
Alpha+-thalassemia trait caused by a nonsense mutation in the alpha2-globin gene: codon 54 (CAG>TAG). 来自 国家科技图书文献中心 喜欢 0 阅读量: 134 作者:B Eng,L Walker,JS Waye 摘要:We report a new alpha-thalassemia (alpha-thal) point mutation detected in a woman with alpha(+)-thal ...
Alpha-thalassemia is usually inherited in an autosomal recessive manner. At conception, each sib of an individual with Hb Bart syndrome has a 25% chance of having Hb Bart syndrome, a 50% chance of having αº-thalassemia (α-thalassemia trait), and a 25% chance of being unaffected ...
coinheritance of Hb E trait and beta0 thalassemia trait can give rise to a transfusion-dependent form of beta thalassemia.176As with other types of transfusion-dependent beta thalassemia, clinical abnormalities are not seen until the infant is 3 to 6 months of age. However, the presence of Hb...
Coexisting β-Thalassemia Trait, Gilbert Syndrome and Alpha-Globin Gene Triplication in a Child with Non-Transfusion Dependent Thalassemia Phenotype View further author informationhttps://orcid.org/0000-0002-1009-7649deepakbansaldr@gmail.comDeepak BansalView further author informationJasbir Kaur HiraView ...
来源期刊 Orphanet Journal of Rare Diseases 2009/12 研究点推荐 Alpha-thalassaemia Alpha‐thalassemia alpha thalassaemia Hydrops Foetalis Syndrome haemoglobin Bart's hydrops foetalis syndrome alpha-thalassaemia trait). The predominant features in HbH disease 引用走势 2013 被引量:40 站内活动 0...
Analysis demonstrated that the greater frequency in the last group was primarily a result of an increased number of subjects with alpha-thalassemia trait (also called homozygous alpha-thalassemia-2). In addition, the frequency of the (-alpha) chromosome was found to increase progressively with age...
This type of hemoglobinopathy produces a group of disorders known as the thalassemia syndromes; as in those with sickle cell trait, thalassemia is believed to provide partial protection from malaria and occurs in high prevalence in the Mediterranean area, the Middle East, and southeast Asia. More ...
Confirmation of the validity of using birth MCV for the diagnosis of alpha thalassemia trait.Confirmation of the validity of using birth MCV for the diagnosis of alpha thalassemia trait.doi:10.4081/hr.2009.e20HbBartshighperformanceliquidchromatographyMCHMCV...