Hb Koya Dora [alpha142, Term-->Ser (TAA>TCA in alpha2)]: a rare mutation of the alpha2 gene stop codon associated with alpha-thalassemia.

doi:10.3109/03630269.2010.486344

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

Back to search

Article

Hb Koya Dora [alpha142, Term-->Ser (TAA>TCA in alpha2)]: a rare mutation of the alpha2 gene stop codon associated with alpha-thalassemia.

Hemoglobin - 1 Jan 2010

Brennan Stephen O, Ryken Sheila, Chan Tim

Abstract excerpt

Hb Constant Spring [(Hb CS) alpha142, Term-->Gln (TAA>CAA in alpha2)] and Hb Koya Dora [alpha142, Term-->Ser (TAA>TCA in alpha2)] both involve mutations of the alpha2 gene stop codon and while Hb CS is the most frequent cause of nondeletional alpha-thalassemia (alpha-thal) in Southeast Asia, Hb Koya Dora is limited to a restricted population from Andhra Pradesh, India. Here we identify a homozygous case of Hb...

Topics

Adult
Chromatography, High Pressure Liquid
Codon, Terminator
Female
Genetic Predisposition to Disease
Hemoglobins, Abnormal
Homozygote
Humans
Mutation
Spectrometry, Mass, Electrospray Ionization
alpha-Thalassemia

Source

Open in PubMed

Identifiers

PMID: 20642339
DOI: 10.3109/03630269.2010.486344

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics