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Article

[Molecular characteristics of the thalassemia syndrome and prenatal diagnosis in a high risk family].

Srpski arhiv za celokupno lekarstvo - 1 Jan 2000

Vujić D, Cvorkov--Drazić M, Pavlović S, Bunjevacki G, Popović Z, Puzigaća Z

Abstract excerpt

The diagnosis of thalassaemia maior has been established in a 6 months old infant by screenig tests. The sick child and his parents were included in the study. Reverse dote blot and allelle-specific PCR confirmed that the mother was heterozygous for mutation in the first intone of beta-globin chain at position 110-beta-IVSI-110. By gap-PCR it was established that the father was heterozygous for haemoglobinopathy...

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PMID: 15637993

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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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