Extreme Genotype/Phenotype Heterogeneity of Double Heterozygous Sickle β-Thalassemia in a Family: Implications in Antenatal Diagnosis.
作者信息
Yadav Diksha Dev, Singh Namrata, Sreedharanunni Sreejesh, Hira Jasbir Kaur, Chhabra Sanjeev, Trehan Amita, Saha Subhash, Sharma Prashant, Das Reena
机构信息
Department of Hematology, Postgraduate Institute of Medical Education and Research, Level 5, Research Block A, Sector 12, Chandigarh, 160012 India.
Pediatric Hemato-Oncology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
出版信息
Indian J Hematol Blood Transfus. 2021 Oct;37(4):689-691. doi: 10.1007/s12288-021-01412-1. Epub 2021 Mar 4.
Abstract
摘要
相似文献
1
Extreme Genotype/Phenotype Heterogeneity of Double Heterozygous Sickle β-Thalassemia in a Family: Implications in Antenatal Diagnosis.一个家族中双杂合子镰状β地中海贫血的极端基因型/表型异质性：对产前诊断的启示
Indian J Hematol Blood Transfus. 2021 Oct;37(4):689-691. doi: 10.1007/s12288-021-01412-1. Epub 2021 Mar 4.
2
Sickle Cell Disease in Jordan: The Experience of a Major Referral Center.约旦镰状细胞病：一个主要转诊中心的经验。
Med Arch. 2021 Feb;75(1):27-30. doi: 10.5455/medarh.2021.75.27-30.
3
Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies.产前诊断血红蛋白病中胎儿遇到的珠蛋白基因修饰的发生率。
Int J Lab Hematol. 2020 Aug;42(4):482-491. doi: 10.1111/ijlh.13232. Epub 2020 May 15.
4
Microcytic hypochromic anemia: should high performance liquid chromatography be used routinely for screening anemic and antenatal patients?小细胞低色素性贫血：高效液相色谱法是否应常规用于筛查贫血患者和产前患者？
Indian J Pathol Microbiol. 2013 Apr-Jun;56(2):109-13. doi: 10.4103/0377-4929.118699.
5
Phenotypic effect of α-globin gene numbers on Indian sickle β-thalassemia patients.α-珠蛋白基因数对印度镰状细胞β-地中海贫血患者表型的影响。
J Clin Lab Anal. 2014 Mar;28(2):110-3. doi: 10.1002/jcla.21652. Epub 2014 Jan 6.
6
Clinical, hematological and genetic features of sickle-cell anemia and sickle cell-beta thalassemia in a Brazilian population.巴西人群中镰状细胞贫血和镰状细胞-β地中海贫血的临床、血液学及遗传学特征
Clin Genet. 1980 Jul;18(1):58-64. doi: 10.1111/j.1399-0004.1980.tb01366.x.
7
Genotype-phenotype correlations in beta-thalassemias.β地中海贫血的基因型-表型相关性
Blood Rev. 1994 Mar;8(1):1-12. doi: 10.1016/0268-960x(94)90002-7.
8
[A rare thalassemia intermedia case caused by co-existence of Hb H disease (--(SEA)/-alpha(4.2)) and beta-thalassemia major (beta (CD17A)>T/beta (IVS2-654C)>T): implications for prenatal diagnosis].[由血红蛋白H病（--(SEA)/-α(4.2)）和重型β地中海贫血（β(CD17A)>T/β(IVS2-654C)>T）共存引起的罕见中间型地中海贫血病例：对产前诊断的启示]
Nan Fang Yi Ke Da Xue Xue Bao. 2008 Jan;28(1):16-9.
9
Screening for inherited thrombophilia might be warranted among Eastern Mediterranean sickle-beta-0 thalassemia patients.对东地中海地区的镰状-β-0地中海贫血患者进行遗传性血栓形成倾向筛查可能是必要的。
J Thromb Thrombolysis. 2006 Oct;22(2):121-3. doi: 10.1007/s11239-006-8953-3.
10
Genotype-phenotype analysis in HbS-beta-thalassemia.
Hum Hered. 1997 May-Jun;47(3):161-4. doi: 10.1159/000154404.
本文引用的文献
1
Hb S-β-thalassemia: molecular, hematological and clinical comparisons.血红蛋白S-β地中海贫血：分子、血液学及临床比较
Hemoglobin. 2011;35(1):1-12. doi: 10.3109/03630269.2010.546306.
2
Clinical, hematologic and molecular variability of sickle cell-β thalassemia in western India.印度西部镰状细胞-β地中海贫血的临床、血液学及分子变异性
Indian J Hum Genet. 2010 Sep;16(3):154-8. doi: 10.4103/0971-6866.73410.
3
Nucleotide -88 (C-T) promoter mutation is a common beta-thalassemia mutation in the Jat Sikhs of Punjab, India.核苷酸-88（C-T）启动子突变是印度旁遮普邦贾特锡克人中常见的β地中海贫血突变。
Am J Hematol. 2005 Aug;79(4):252-6. doi: 10.1002/ajh.20445.
4
Clinical and molecular correlations in the sickle/beta+-thalassemia syndrome.
Am J Hematol. 1987 Jan;24(1):31-6. doi: 10.1002/ajh.2830240105.
5
The interaction of alpha thalassaemia and sickle cell-beta zero thalassaemia.α地中海贫血与镰状细胞-β0地中海贫血的相互作用。
Br J Haematol. 1988 Dec;70(4):449-54. doi: 10.1111/j.1365-2141.1988.tb02515.x.
Zotero 插件