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

Variable presentation of HB H disease due to homozygosity for the rare polyadenylation signal A T(Indian) (AATAAA>AATA- -) mutation in four Indian families.

Hemoglobin - 1 Jan 2013

Nair Sona B, Nadkarni Anita H, Ghosh Kanjaksha, Colah Roshan B

Abstract excerpt

The aim of this study was to identify the molecular defects leading to the variable clinical and hematological presentation of four patients with Hb H disease. Investigations included a complete blood count, high performance liquid chromatography (HPLC) analyses, cellulose acetate electrophoresis (pH 8.9), heat stability test, α genotyping by multiplex gap polymerase chain reaction (gap-PCR) to screen for the...

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 Delete account & data About Contact Helena Bioinformatics

Share to Genetic Heterogeneity

Share to Homozygote

Share to Polyadenylation

Share to Sequence Deletion

Share to Severity of Illness Index

Source

Identifiers

PMID: 23517369
DOI: 10.3109/03630269.2013.774284

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variable presentation of HB H disease due to homozygosity for the rare polyadenylation signal A T(Indian) (AATAAA>AATA- -) mutation in four Indian families.PMID 23517369Read ↗

Characterization of Clinical and Laboratory Profiles of the Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA- -) in an Indian Population.Semantic proximity Read ↗

α-Globin Genotypes Associated with Hb H Disease: A Report from Oman and a Review of the Literature from the Eastern Mediterranean Region.Semantic proximity Read ↗

Homozygosity for the AATAAA > AATA- - Polyadenylation Site Mutation on the α2-Globin Gene Causing Transfusion-Dependent Hb H Disease in an Iranian Patient: A Case Report.Semantic proximity Read ↗

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral centerSemantic proximity Read ↗

Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.Semantic proximity Read ↗

Molecular diversity of hemoglobin H disease in India.Semantic proximity Read ↗

Genotype-Phenotype Correlation of HbH Disease in Northern IraqSemantic proximity Read ↗

Hb E-β-Thalassemia in Five Indian States.Semantic proximity Read ↗

Genotype-phenotype correlation of HbH disease in northern Iraq.Semantic proximity Read ↗

Alpha thalassaemia in Indonesia: phenotypes and molecular defects.Semantic proximity Read ↗

Haemoglobin H hydrops fetalis syndrome associated with homozygosity for the alpha2-globin gene polyadenylation signal mutation AATAAA-->AATA- -.Semantic proximity Read ↗

Alpha-2-globin gene polyadenylation (AATAAA-->AATAAG) mutation in hemoglobin H disease among Kuwaitis.Semantic proximity Read ↗

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