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Article

Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion.

Taiwanese journal of obstetrics & gynecology - 1 Jun 2018

Ly Thi Thanh Ha, Le Thi Thanh Huong, Hoang Luong Long, Huy Tran Thinh, Liu Su-Ching, Truong Hai Nam, Ta Thanh Van, Bui The-Hung, Tran Van Khanh

Abstract excerpt

OBJECTIVE: The thalassemias is a group of hereditary disorders with impaired production of functional hemoglobin. In this report we described a rare case of compound heterozygous mutation of South-East Asia type hereditary persistence of fetal hemoglobin (SEA-HPFH) and β -thalassemia that allowed prenatal diagnosis to be performed in a subsequent pregnancy in the family. CASE REPORT: The father showed a SEA-HPFH...

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Source

Identifiers

PMID: 29880180
DOI: 10.1016/j.tjog.2018.04.019

Genes

SEA
HBB

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.

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