The First Case of Hb Groene Hart [α119(H2)Pro→Ser,CCT→TCT (α1)] Homozygosity Confirms That a Thalassemia Phenotype Is Associated with this Abnormal Hemoglobin Variant-Reference-Cited by-同舟云学术

The First Case of Hb Groene Hart [α119(H2)Pro→Ser,CCT→TCT (α1)] Homozygosity Confirms That a Thalassemia Phenotype Is Associated with this Abnormal Hemoglobin Variant

Published:2007-01 Issue:2 Volume:31 Page:179-182
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Giordano Piero C.,Zweegman Sonja,Akkermans Nicole,Arkesteijn Sandra G.J.,van Delft Peter,Versteegh Florens G.A.,Wajcman Henri,Harteveld Cornelis L.

Publisher

Informa UK Limited

Subject

Biochemistry, medical,Clinical Biochemistry,Genetics(clinical),Hematology

Link

http://www.tandfonline.com/doi/pdf/10.1080/03630260701289490

Reference10 articles.

1. An α‐Thalassemia Phenotype in a Dutch Hindustani, Caused by a New Point Mutation that Creates an Alternative Splice Donor Site in the First Exon of the α2‐Globin Gene

2. Hb Amsterdam [α32(B13)Met→Ile (α2)]: A New Unstable Variant Associated with an α-Thalassemia Phenotype and a New African Polymorphism

3. Hb Oegstgeest [α104(G11)Cys → Ser (α1)]. A New Hemoglobin Variant Associated with a Mild α-Thalassemia Phenotype

4. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions

5. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia

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