Volume 34; Issue 4

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Hemoglobin
Volume 34; Issue 4

Hemoglobin

Volume 34; Issue 4

1

Region-Specific Genetic Heterogeneity of HBB Mutation Distribution in South-Western Greece

Papachatzopoulou, Adamantia, Kourakli, Alexandra, Stavrou, Eleana F., Fragou, Ekaterini, Vantarakis, Apostolos, Patrinos, George P., Athanassiadou, Aglaia

Journal:

Year:

2010

Language:

english

File:

PDF, 617 KB

english, 2010

2

Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles

Frischknecht, Hannes, Troxler, Heinz, Dutly, Fabrizio, Walker, Lynda, Hohenadel, Betty-Ann, Eng, Barry, Waye, John S.

Journal:

Year:

2010

Language:

english

File:

PDF, 380 KB

english, 2010

3

Identification of a New Mutation on the β-Globin Gene: Codons 8/9 (+AGAA); GAG.AAG.TCT(Glu-Lys-Ser)>GAG. AA AGAA G, in a Patient From the North of France with a Phenotype of β-Thalassemia Minor

Georgel, Anne France, Méreau, Claude, Willekens, Christophe, Bourgeois, Emmanuelle, Maboudou, Patrice, Crépin, Michel, Pissard, Serge, Rose, Christian

Journal:

Year:

2010

Language:

english

File:

PDF, 250 KB

english, 2010

4

Identification of the Linkage of a 1.357 KB β-Globin Gene Deletion and A γ-Globin Gene Triplication in a Chinese Family

Lou, Ji-wu, Li, Qian, Wei, Xiao-feng, Huang, Ji-wei, Xu, Xiang-min

Journal:

Year:

2010

Language:

english

File:

PDF, 583 KB

english, 2010

5

Hydrops Fetalis Associated with Homozygosity for Hb Adana [α59(E8)Gly→Asp (α2)]

Nainggolan, Ita M., Harahap, Alida, Setianingsih, Iswari

Journal:

Year:

2010

Language:

english

File:

PDF, 266 KB

english, 2010

6

Hb Koya Dora [α142, Term→Ser (T A A>T C A in α2)]: A Rare Mutation of the α2 Gene Stop Codon Associated with α-Thalassemia

Brennan, Stephen O., Ryken, Sheila, Chan, Tim

Journal:

Year:

2010

Language:

english

File:

PDF, 581 KB

english, 2010

7

Hb Charlieu [α106(G13)Leu→Pro (α1)]: A New Phenotypically Silent Hemoglobin Variant Associated with a Mild α-Thalassemia Phenotype

Joly, Philippe, Szymanowicz, Anton, Neyron, Marie-Jeanne, Zine, Abdellah, Wajcman, Henri, Francina, Alain

Journal:

Year:

2010

Language:

english

File:

PDF, 549 KB

english, 2010

8

Erythrocytosis Due to a Combination of the High Oxygen Affinity Hemoglobin Variant, Hb Olympia [β20(B2)Val→Met] with β- and α-Thalassemia Mutations: First Case in the Literature

Kalotychou, Vassiliki, Tzanetea, Revekka, Konstantopoulos, Kostas, Papassotiriou, Ioannis, Rombos, Ioannis

Journal:

Year:

2010

Language:

english

File:

PDF, 436 KB

english, 2010

9

Codon 24 (TA T >TA G ) and Codon 32 (A T G>A G G) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening

Giordano, Piero C., Cnossen, Marjon H., Joosten, Annemarie M.S., Jansen, Cees A.M., Hakvoort, Tineke E., Bakker-Verweij, Margreet, Arkesteijn, Sandra G.J., van Delft, Peter, Waye, John S., Bouva, Mare

Journal:

Year:

2010

Language:

english

File:

PDF, 413 KB

english, 2010