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Article

[Hemoglobin H disease with a rare α-thalassemia gene mutation (--SEA/α*92A>Gα): pedigree analysis and genetic diagnosis].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University - 20 Aug 2016

Yan Shan-Huo, Lao Ke-Gan, Fu Ke-Peng, Gong Fei-Fei, Wen Xiao-Jun, Zhou Wan-Jun

Abstract excerpt

OBJECTIVE: To identify a rare α-thalassemia gene mutation in a family from south China and perform a pedigree analysis and genetic diagnosis of hemoglobin H (HbH) disease caused by this mutation. METHODS: Peripheral blood samples were collected from the family members for analysis of the hematological phenotype and routine test of thalassemia genes. DNA sequencing was carried out for samples that showed genotype...

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PMID: 27687668

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SEA

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

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