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 ).

ABSTRACT:

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) were employed to identify common α-thalassemia and Hb H disease. Rare β-thalassemia mutations were detected by DNA sequencing.

Results

Hematological analysis and hemoglobin electrophoresis revealed a mild anemia α⁰ -thalassemia trait (Hb 90 g/L, MCV 71 fL, and MCH 22.7 pg) compound with β⁺ -thalassemia trait (MCV 71 fL, MCH 22.7 pg, and HbA

SUBMITTER: Qian H 

PROVIDER: S-EPMC7667371 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature