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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.

DOI:10.1007/s12288-021-01412-1
PMID:34744353
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8523634/
Abstract
摘要

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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.