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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 /-α4.2 ).


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 HbA2 5.51%) for the pregnant woman. DNA sequencing for the β-globin gene revealed rare a -90 (C>T) (HBB: c.-140 C>T) mutation for the woman. DNA analysis identified that the fetus inherited the α0 -thalassemia mutation [--SEA (Southeast Asian)] and a rare β+ -thalassemia mutation -90 (C>T) (HBB: c.-140 C>T) from the mother, and the α+ -thalassemia mutation [-α4.2 (leftward)] from the father.

Conclusion

We reported a rare -90 (C>T) (HBB: c.-140 C>T) mutation combined with the --SEA /-α4.2 in a family. This finding enriched the mutation spectrum of thalassemia molecular characteristics in China and emphasized the significance in DNA sequencing in mutation screening for the families with thalassemia.

SUBMITTER: Qian H 

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

REPOSITORIES: biostudies-literature

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Publications

Prenatal diagnosis of a rare β-thalassemia gene -90 (C>T) (HBB: c.-140 C>T) mutation associated with deletional Hb H disease (--<sup>SEA</sup> /-α<sup>4.2</sup> ).

Qian Hou H   Huang Jianlin J   Xu Ji J   Zhao Weihua W   Ye Xiufeng X   Liu Wenlan W  

Molecular genetics & genomic medicine 20200903 11


<h4>Background</h4>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.<h4>Methods</h4>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  ...[more]

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