Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families-Reference-Cited by-同舟云学术

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Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families

Published:2018-01-02 Issue:1 Volume:42 Page:51-53
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Pondman Kirsten M.¹,Brinkman Jacoline W.¹,van der Straaten Hanneke M.²,Stroobants An K.³,Harteveld Cornelis L.⁴

Affiliation:

1. Department of Clinical Chemistry, St. Jansdal Hospital, Harderwijk, The Netherlands;

2. Department of Internal Medicine, St. Jansdal Hospital, Harderwijk, The Netherlands;

3. Department of Clinical Chemistry, Amsterdam Medical Center (AMC), Amsterdam, The Netherlands;

4. Hemoglobinopathies Laboratory, Department of Clinical Genetics (LDGA), Leiden University Medical Center (LUMC), Leiden, The Netherlands

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2018.1429280

Reference11 articles.

1. Hemoglobin variants detected by hemoglobin A1c (HbA1c) analysis and the effects on HbA1c measurements

2. Hb Bleuland [α108(G15)Thr→Asn, ACC→AAC (α2)]: A New Abnormal Hemoglobin Associated with a Mild α-Thalassemia Phenotype

3. Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study

4. Hemoglobin Nouakchott [α114(GH2) Pro → Leu]: a new hemoglobin variant displaying an unusual increase in hydrophobicity

5. Globin chain analysis: An important tool in phenotype study of hemoglobin disorders

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1. Hb Huadu [α124(H7)Ser→Thr (TCC>ACC), HBA2: c.373T>A]: A Novel Variant of the α-Globin Gene;Hemoglobin;2022-11-02

2. Two co-inherited hemoglobin variants revealed by capillary electrophoresis during quantification of glycated hemoglobin;Clinical Chemistry and Laboratory Medicine (CCLM);2022-02-24

3. Hb Hezhou [β64(E8)Gly→Ser; HBB: c.193G>A]: A Novel Variant on the β-Globin Gene;Hemoglobin;2021-04-11

4. Compound heterozygosity for hemoglobin variant Hb-Broomhill and the Southeast Asian α-thalassemia deletion does not worsen outcome: a case report of two unrelated patients;Journal of International Medical Research;2020-11

5. Curating the gnomAD database: Report of novel variants in the globin‐coding genes and bioinformatics analysis;Human Mutation;2019-10-14

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