Alpha-thalassemia car- rier identification by DNA analysis in the screening for thalassemia. Am J Hematol. 1998;59:273-8.Galanello R, Sollaino C, Paglietti E, Barella S, Perra C, Doneddu I, et al. Alpha-thalassemia carrier identification by DNA analysis in the screening for thalassemia....
The large amount of hemoglobin Barts found in the RBCs of homozygotes for alpha-thalassemia contributes to the clinical severity of the syndrome, because the markedly increased oxygen affinity of this hemoglobin makes it incapable of delivering oxygen to the tissues. DNA-based diagnostic tests are ...
Alpha thalassemia is one of the most common autosomal recessive disorders in the world. Alpha thalassemia is found in most populations worldwide, but is most common in the Middle East, Southeast Asia, and certain Mediterranean countries. [1]. The high birth prevalence rate of alpha thalassemia m...
Alpha thalassemia is the most common single gene mutation worldwide. In Thailand there exists 15-30% alpha-thalassemia carriers distributed throughout the country. DNA analysis by Southern blot hybridization reveals that the two major alpha-thalassemia alleles, alpha-thalassemia 1 and alpha-thalassemia...
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...
Conclusion: With the new MCV cutoff (≤76.15 fL) as a secondary cutoff for screening alpha-thalassemia 1 carrier, a substantial number of positive cases requiring DNA analysis could be avoided without compromising the detection efficacy.doi:10.1111/jog.14222...
Alpha thalassemia/mental retardation syndrome X-linked (ATRX) is a member of the SWI/SNF protein family of DNA-dependent ATPases. It functions as a chromatin remodeler and is classified as an SNF2-like helicase. Here, we showed somatic knock-out of ATRX displayed perturbed S-phase ...
thalassemia major trait References in periodicals archive ? Keywords: Alpha thalassaemia, DNA mutation analysis, [beta]-thalassaemia major, Co-inheritance. Frequency of Alpha Thalassaemia in homozygous Beta Thalassaemia paediatric patients and its clinical impact at a blood disease centre in Karachi, Pakis...
X-linked α-thalassemia/mental retardation (ATR-X) syndrome: Localisation to Xq12–21.3 by X-inactivation and linkage analysis VJ, Higgs DR (1992) X-linked alpha-thalassemia/mental retardation (ATR- X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis... R J ...
A rapid technique for diagnosis of α-thalassemia-1 SEA type was implemented. The technique used is based on real-time gap-PCR and high resolution melting (HRM) analysis of the amplified fragment using the Rotor-Gene 6000. The DNA samples used for amplification were obtained from whole blood,...