Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening-Reference-Cited by-同舟云学术

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Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening

Published:2019-05-04 Issue:3 Volume:43 Page:207-209
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Wolf Alejandro¹^ORCID,Rohr Joseph M.¹^ORCID,Amador Catalina¹^ORCID,Starr Lois J.²^ORCID,Hoyer James D.³,Ford James B.²^ORCID

Affiliation:

1. Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE, USA;

2. Department of Pediatrics, Children’s Hospital and Medical Center, University of Nebraska Medical Center, Omaha, NE, USA;

3. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2019.1634591

Reference14 articles.

1. Global epidemiology of haemoglobin disorders and derived service indicators

2. Hemoglobin Variants: Biochemical Properties and Clinical Correlates

3. A brief review on newborn screening methods for hemoglobinopathies and preliminary results selecting beta thalassemia carriers at birth by quantitative estimation of the HbA fraction

4. Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: A New High Oxygen Affinity Variant

5. The Human Genome Browser at UCSC

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1. False HbA1cValue due to a Rare Variant of Hemoglobin J-Cubujuqui;Clinical Laboratory;2023

2. First Detection of Hb Cenxi [β46(CD5)Gly→Arg (GGG>CGG), HBB: c.139G>C] by Capillary Electrophoresis;Hemoglobin;2020-01-27

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