Autor: |
Hou Qian, Jianlin Huang, Ji Xu, Weihua Zhao, Xiufeng Ye, Wenlan Liu |
Jazyk: |
angličtina |
Rok vydání: |
2020 |
Předmět: |
|
Zdroj: |
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020) |
Druh dokumentu: |
article |
ISSN: |
2324-9269 |
DOI: |
10.1002/mgg3.1472 |
Popis: |
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. |
Databáze: |
Directory of Open Access Journals |
Externí odkaz: |
|
Nepřihlášeným uživatelům se plný text nezobrazuje |
K zobrazení výsledku je třeba se přihlásit.
|