Two pregnant women with abnormal hemoglobin tests confirmed to have rare mutations for β-thalassemia: A case series study

hunjin Luo; Sainan  Tan; Wenying  Li; Shu-Xiang  Zhou; Liu  Ni; Yi-Qiong  Yang; Xiao-Min  Zhang; Pinghong  Huang; Huijian  Yi; Xiaodong  Yang

doi:10.22541/au.165500141.10145919/v1

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Two pregnant women with abnormal hemoglobin tests confirmed to have rare mutations for β-thalassemia: A case series study

hunjin Luo,
Sainan Tan,
Wenying Li,
Shu-Xiang Zhou,
Liu Ni,
Yi-Qiong Yang,
Xiao-Min Zhang,
Pinghong Huang,
Huijian Yi,
Xiaodong Yang

Abstract

Thalassemia is a well-understood genetic disorder, and routine genetic tests typically cover 95% of known genetic mutations. Discordance between the clinical phenotype and genotypes suggest that expanded genetic studies should be performed to look for rare mutations.We report two pregnant women at 17 week gestations. Routine laboratory and geneti