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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 (‐‐SEA/‐α 4.2)

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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… Click to show full abstract

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.

Keywords: rare thalassemia; diagnosis rare; thalassemia gene; disease; prenatal diagnosis

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020

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