Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Analysis of rare thalassemia caused by HS-40 regulatory site deletion.

Hematology (Amsterdam, Netherlands) - 1 Dec 2020

Luo Shiqiang, Chen Xingyuan, Zhong Qingyan, Wang Qiuhua, Xu Zehui, Qin Liuqun, Wang Jingren, Yuan Dejian, Yan Tizhen, Tang Ning

Abstract excerpt

ABSTRACT Objectives: To investigate the effect of HS-40 regulatory site deletion on α-globin gene expression and its clinical significance. Methods: Venous blood samples of subjects were analyzed using a hematology analyzer and high- performance liquid chromatography; fetal cord blood was analyzed by a capillary electrophoresis analyzer. Gap-polymerase chain reaction (PCR), reverse dot blot (RDB), and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to alpha-Globins
Share to alpha-Thalassemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Anemia, Hypochromic

Share to Hemoglobins, Abnormal

Share to Heterozygote

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Sequence Deletion

Source

Identifiers

PMID: 32720864
DOI: 10.1080/16078454.2020.1799587

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of rare thalassemia caused by HS-40 regulatory site deletion.PMID 32720864Read ↗

Ancestry of the major long-range regulatory site of the α-globin genes in the Portuguese population with the common 3.7 kb α-thalassemia deletion.Semantic proximity Read ↗

Regulatory Mutation Study in Cases with Unsolved Hypochromic Microcytic Anemia and α-Major Regulatory Element Haplotype Analysis in Iran.Semantic proximity Read ↗

Significance of genetic counseling and prenatal diagnosis on α2 codon 30 (-GAG) (HBA2: c.91_93delGAG) mutationSemantic proximity Read ↗

Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region.Semantic proximity Read ↗

Spectrum of beta-thalassemia mutations and their association with allelic sequence polymorphisms at the beta-globin gene cluster in an Eastern Indian population.Semantic proximity Read ↗

Detection of four rare thalassemia variants using Single-molecule realtime sequencingSemantic proximity Read ↗

Prenatal diagnosis of a rare β-thalassemia gene －90 (C>T) (HBB: c.-140 C>T) mutation associated with deletional Hb H disease (--SEA /-α4.2 ).Semantic proximity Read ↗

Genetic counseling and prenatal decision for hemoglobin H disease caused by the rare α2 codon 30 (-GAG) (HBA2: c.91_93delGAG) mutation and the SEA deletion: Case series study.Semantic proximity Read ↗

First Report of the 3'-Untranslated Region +1506 (A>C) [NM_000518.5: c.*32A>C] mutation on the β-Globin Gene in the Indian Population.Semantic proximity Read ↗

Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression.Semantic proximity Read ↗

Beta 0-thalassemia due to a cytosine deletion in codon 41 associated with hemoglobin E.Semantic proximity Read ↗

Structural switching/polymorphism by sequential base substitution at quasi-palindromic SNP site (G → A) in LCR of human β-globin gene cluster.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.