HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype.
作者信息
Joly Philippe, Schluth-Bolard Caroline, Lacan Philippe, Barro Claire, Pissard Serge, Labalme Audrey, Sanlaville Damien, Badens Catherine
机构信息
Unité de Pathologie Moléculaire du Globule Rouge, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Hospices Civils and Université Claude Bernard-Lyon 1, Lyon, France.
出版信息
Haematologica. 2013 Jan;98(1):e7-8. doi: 10.3324/haematol.2012.071167. Epub 2012 Oct 12.
Abstract
摘要
相似文献
1
HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype.
Haematologica. 2013 Jan;98(1):e7-8. doi: 10.3324/haematol.2012.071167. Epub 2012 Oct 12.
2
Unusual low sickle cell hemoglobin level.
Haematologica. 2013 Jun;98(6):e64. doi: 10.3324/haematol.2013.087973.
3
Response to "Unusual low sickle cell hemoglobin level" Haematologica. 2012;98(6):e64.
Haematologica. 2013 Jun;98(6):e68. doi: 10.3324/haematol.2013.088617.
4
Hemoglobin Cocody [beta 21 (B3)Asp----Asn] hematologic aspects of heterozygosity and of Hb Cocody/beta +-thalassemia.
Hemoglobin. 1985;9(2):193-6. doi: 10.3109/03630268508997003.
5
A rare case of a compound heterozygote hemoglobin S/hemoglobin Fannin-Lubbock-I individual. Is it a sickling disorder?
Lab Hematol. 2010 Jun;16(2):26-7. doi: 10.1532/LH96.10004.
6
[Hemoglobinopathy S with an interaction of HbS and Hb G-Ferrara].
Sangre (Barc). 1983;28(6):770-4.
7
Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori.
N Engl J Med. 1991 Oct 17;325(16):1150-4. doi: 10.1056/NEJM199110173251607.
8
Abnormal haemoglobins among pregnant women from Mozambique.
J Med Genet. 1986 Apr;23(2):151-2. doi: 10.1136/jmg.23.2.151.
9
Sickle cell-Hb Lepore Boston syndrome. Uncommon differential diagnosis to homozygous sickle cell disease.
Am J Dis Child. 1982 Jan;136(1):19-22.
10
[Disease caused by sickle cell anemia and hemoglobin D-Punjab. 3d case found in Venezuela].
Sangre (Barc). 1985;30(2):185-9.
引用本文的文献
1
Unusual low sickle cell hemoglobin level.
Haematologica. 2013 Jun;98(6):e64. doi: 10.3324/haematol.2013.087973.
本文引用的文献
1
Rapid and reliable β-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays.
Clin Chim Acta. 2011 Jun 11;412(13-14):1257-61. doi: 10.1016/j.cca.2011.03.025. Epub 2011 Apr 1.
2
Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait.
Blood. 2010 Oct 14;116(15):2822-5. doi: 10.1182/blood-2010-05-284331. Epub 2010 Jul 1.
3
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.
J Med Genet. 2005 Dec;42(12):922-31. doi: 10.1136/jmg.2005.033597. Epub 2005 May 13.
4
Heterogeneity of the epsilon gamma delta beta-thalassaemias: characterization of three novel English deletions.
Br J Haematol. 2005 Mar;128(5):722-9. doi: 10.1111/j.1365-2141.2005.05368.x.
5
Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients.
Br J Haematol. 2004 Dec;127(5):604-6. doi: 10.1111/j.1365-2141.2004.05237.x.
6
A novel mechanism for thalassaemia intermedia.
Lancet. 2002 Jan 12;359(9301):132-3. doi: 10.1016/s0140-6736(02)07338-5.
7
Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.
Blood. 2000 Jan 1;95(1):360-2.
Zotero 插件