ArticleMolecular genetics & genomic medicine2020
Prenatal diagnosis of a rare β-thalassemia gene －90 (C>T) (HBB: c.-140 C>T) mutation associated with deletional Hb H disease (--
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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- Prenatal diagnosis of a rare β-thalassemia gene －90 (C>T) (HBB: c.-140 C>T) mutation associated with deletional Hb H disease (--Molecular genetics & genomic medicine · 2020Article
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6 authors at 1 institution in 1 country.
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Abstract
backgroundHemoglobin 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.
methodsHematology parameters and hemoglobin electrophoresis analysis, gap-polymerase chain reaction (gap-PCR) and reverse dot-blot hybridization (RDB-PCR) were employed to identify common α-thalassemia and Hb H disease. Rare β-thalassemia mutations were detected by DNA sequencing.
resultsHematological analysis and hemoglobin electrophoresis revealed a mild anemia α
conclusionWe reported a rare －90 (C>T) (HBB: c.-140 C>T) mutation combined with the --
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