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

被引：2

作者：

Wolf, Alejandro ^{[1
]}

Rohr, Joseph M. ^{[1
]}

Amador, Catalina ^{[1
]}

Starr, Lois J. ^{[2
]}

Hoyer, James D. ^{[3
]}

Ford, James B. ^{[2
]}

机构：

[1] Univ Nebraska Med Ctr, Dept Pathol & Microbiol, Omaha, NE 68198 USA

[2] Univ Nebraska Med Ctr, Childrens Hosp & Med Ctr, Dept Pediat, 986878 Nebraska Med Ctr, Omaha, NE 68198 USA

[3] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

来源：

HEMOGLOBIN | 2019年 / 43卷 / 03期

关键词：

Capillary electrophoresis (CE); hemoglobinopathy; high performance liquid chromatography (HPLC); neonatal screening; MUTATIONS;

D O I：

10.1080/03630269.2019.1634591

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We describe here a previously unreported hemoglobin (Hb) variant, Hb Gibbon [beta 124(H2)Pro -> Thr (HBB: c.373C>A, p.P125T)] detected by newborn Hb screening in a term male with no family history for hemoglobinopathy or other screening abnormalities. This missense mutation produces a beta-globin chain variant that was detected by high performance liquid chromatography (HPLC) methods, but is silent by capillary electrophoresis (CE). DNA sequencing studies revealed that his father was also a heterozygote for this mutation. Neither has abnormalities on complete blood count (CBC) or any symptomatology.

引用

页码：207 / 209

页数：3

共 4 条

[1] Hb Huadu [α124(H7)Ser→Thr (TCC>ACC), HBA2: c.373T>A]: A Novel Variant of the α-Globin Gene
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HEMOGLOBIN, 2022, 46 (06) : 335 - 337
[2] Hb Sichuan [α67(E16)Thr→Ile, HBA2: c.203C>T]: A Novel Hemoglobin Variant That Can Be Detected by Glycated Hemoglobin Electrophoresis
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Ji, Ling
HEMOGLOBIN, 2018, 42 (5-6) : 330 - 332
[3] Hb Kalavasos [HBA2: c.275T>A; p.Leu92His]: a Novel Chain Hemoglobin Variant
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HEMOGLOBIN, 2016, 40 (05) : 345 - 348
[4] A Novel β-Globin Chain Hemoglobin Variant, Hb Allentown [β137(H15)Val→Trp (GTG>TGG) HBB: c.412_413delinsTG, p.Val138Trp], Associated with Low Oxygen Saturation, Intermittent Aplastic Crises and Splenomegaly
Collier, Anderson B., III
Coon, Lea M.
Monteleone, Philip
Umaru, Samuel
Swanson, Kenneth C.
Hoyer, James D.
Oliveira, Jennifer L.
HEMOGLOBIN, 2016, 40 (02) : 130 - 133

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