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Article

Unusual molecular basis of Hb H disease in the Azores Islands, Portugal.

Hemoglobin - 1 Jan 1990

Romão L, Olim G, Martins M C, Rodrigues V, Coutinho-Gomes M P, Lavinha J

Abstract excerpt

An Azorean family with Hb H disease (10% Hb H) was studied in order to elucidate its molecular basis. DNA studies on the patient only revealed a 4.2 kb "leftward" deletion of paternal origin which implies the co-inheritance of a nondeletional alpha-thalassemia determinant. Restriction endonuclease and oligonucleotide analysis allowed the exclusion of five point mutations: initiation codon (at both alpha 1- and...

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PMID: 2101837
DOI: 10.3109/03630269009046969

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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.

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