Another Hb with inclusion bodies β-thalassemia, owing to Hb Durham-N.C. [β114(G16) Leu > Pro]. First case described in Hispanic populations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00277-011-1310-4.pdf
Reference14 articles.
1. Thein SL (1999) Is it dominantly inherited β-thalassemia or just a β-chain variant that is highly unstable? Br J Haematol 107:12–21
2. Weatherall DJ, Clegg JB, Knox-Macaulay HHM, Bunch C, Hopkins CR, Temperley IJ (1973) A genetically determined disorder with features both of thalassemia and congenital dyserythopoietic anaemia. Br J Haematol 24:681–702
3. Podda A, Galanello R, Maccioni L, Melis MA, Rosatelli C, Perseu L, Cao A (1991) Hemoglobin Cagliari (beta 60 [E4] Val→Glu): a novel unstable thalassemic hemoglobinophaty. Blood 77(2):371–375
4. Arjona SN, Maldonado Eloy-Garcia J, Gu L-H, Smetanina NS, Huisman THJ (1996) The dominant β-thalassaemia in a Spanish family is due to a frameshift that introduces an extra CGG codon (= arginine) at the 5′ end of the second exon. Br J Haematol 93:841–844
5. Fei YJ, Stoming TA, Kutlar A, Huisman TH, Stamatoyannopoulos G (1989) One form of inclusion body beta-thalassemia is due to a GAA→TAA mutation at codon 121 of the beta chain. Blood 73(4):1075–1077
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1. Double Heterozygosity for Hb Durham-N.C. (HBB: c.344T>C) [β114(G16)Leu→Pro] and the IVS-I-110 (HBB: c.93-21G>A) Causing a Severe β-Thalassemia Phenotype;Hemoglobin;2019-05-04
2. Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): A New Hyperunstable Hemoglobin Variant;Hemoglobin;2014-01-16
3. Hb Filottrano [codon 120 (–A)]: A Novel Frameshift Mutation in Exon 3 of the β-Globin Gene Causing Dominantly Inherited β-Thalassemia Intermedia;Hemoglobin;2012-06
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