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

[Association between hemoglobin Groene Hart and hemoglobin J-Paris-I: first case in Spain].

Medicina clinica - 9 Mar 2015

de la Fuente-Gonzalo Félix, Ropero Paloma, Martínez-Nieto Jorge, Villegas Ana, González Fernando A, Díaz-Mediavilla Joaquín

Abstract excerpt

BACKGROUND AND OBJECTIVE: Thalassemias are the most frequent monogenic disorder around the world. α-thalassemias are due to a deficiency of synthesis in the alpha-globin chain of the hemoglobin (Hb). Hb Groene Hart is a hyperunstable variant. In this work, we have studied 24 cases affected by Hb Groene Hart, one of them associated with Hb J-Paris-I. PATIENTS AND METHODS: Twenty-four patients from 17 unrelated...

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 Child, Preschool

Share to Genetic Markers

Share to Hemoglobins, Abnormal

Share to Heterozygote

Source

Identifiers

PMID: 24530052
DOI: 10.1016/j.medcli.2013.10.026

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 10 closest

[Association between hemoglobin Groene Hart and hemoglobin J-Paris-I: first case in Spain].PMID 24530052Read ↗

The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant.Semantic proximity Read ↗

Impaired binding of AHSP to α chain variants: Hb Groene Hart illustrates a mechanism leading to unstable hemoglobins with α thalassemic like syndromeSemantic proximity Read ↗

Description of the phenotypes of 63 heterozygous, homozygous and compound heterozygous patients carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] variant.Semantic proximity Read ↗

Detection of a thalassemic alpha-chain variant (Hemoglobin Groene Hart) by reversed-phase liquid chromatography.Semantic proximity Read ↗

Two new G gamma chain variants: Hb F-Saint-Etienne [G gamma 79(EF3)Asp-->His] and Hb F-Lyon [G gamma 97(FG4)His-->Arg].Semantic proximity Read ↗

α-Hemoglobin stabilizing protein: a modulating factor in thalassemias?Semantic proximity Read ↗

Hb Plasencia [α125(H8)Leu→Arg (α2)] is a frequent cause of α+-thalassemia in the Portuguese population.Semantic proximity Read ↗

Two complex associations of an HBD mutation and a rare α hemoglobinopathy.Semantic proximity Read ↗

Hemoglobin (Hb) Val de Marne (Hb Footscray) in Brazil: the first case report.Semantic proximity Read ↗

Two new mutations in cis on (G)gamma chain of fetal hemoglobin: Hb F-Madrid [G gamma 50(D1)Ser-->Cys] and [G gamma 75(E19)Ile-->Thr].Semantic proximity Read ↗

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