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Article

Prenatal diagnosis of a rare β-thalassemia gene －90 (C>T) (HBB: c.-140 C>T) mutation associated with deletional Hb H disease (--SEA /-α4.2 ).

Molecular genetics & genomic medicine - 1 Nov 2020

Qian Hou, Huang Jianlin, Xu Ji, Zhao Weihua, Ye Xiufeng, Liu Wenlan

Abstract excerpt

BACKGROUND: Hemoglobin H (Hb H) disease can be caused by compound heterozygosity for two different mutations or from homozygotes for mutations, and conventional genetic methods may lead to misdiagnosis when Hb H disease is combined with a rare β-thalassemia. METHODS: Hematology parameters and hemoglobin electrophoresis analysis, gap-polymerase chain reaction (gap-PCR) and reverse dot-blot hybridization (RDB-PCR)...

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PMID: 32885601
DOI: 10.1002/mgg3.1472
PMCID: PMC7667371

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