scholarly journals 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 )

2020 ◽  
Vol 8 (11) ◽  
Author(s):  
Hou Qian ◽  
Jianlin Huang ◽  
Ji Xu ◽  
Weihua Zhao ◽  
Xiufeng Ye ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Hb H Disease

PRENATAL DIAGNOSIS OF Hb H DISEASE CAUSED BY A HOMOZYGOSITY FOR THEα2 POLY A (AATAAA→ AATAAG) MUTATION

Hemoglobin ◽  
2001 ◽  
Vol 25 (2) ◽  
pp. 255-258 ◽  
Author(s):  
M. Akif Çürük ◽  
Yurdanur Kilinç ◽  
Cüneyt Evrüke ◽  
Fatma T. Ozgünen ◽  
Kýymet Aksoy ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Hb H Disease

Significance of genetic counseling and prenatal diagnosis on α2 codon 30 (-GAG) (HBA2: c.91_93delGAG) mutation

2019 ◽  
Author(s):  
Zhiyang Guan ◽  
Zeyan Zhong ◽  
Hailin He ◽  
Dan Chen ◽  
Guoxing Zhong ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Dna Analysis ◽  
Globin Gene ◽  
Gene Mutations ◽  
Severe Form ◽  
Clinical Severity ◽  
Globin Genes ◽  
Significant Difference ◽  
Hb H Disease

Abstract Background : Non-deletional hemoglobin (Hb) H disease is the severest form of α- thalassemia ( thal ) compatible with post-natal life, which is caused by the interaction of an α-globin gene mutation with α 0 -thal. Therefore, it is important to identify rare α-globin gene mutations for the prevention of severe form of non-deletional Hb H disease . Methods: In all, 61,796 samples were characterized at our center. Common α- and β- thalassemia mutations were detected by routine DNA analysis (gap-PCR and PCR-RDB ). The DNA sequencing of α-globin genes was performed to identify the unknown mutation. Statistical analyses were conducted using SPSS 19.0 statistical software. Results: Of the 61,796 samples, eight were identified as α2 codon 30 (-GAG) ( HBA2 : c.91_93delGAG) mutation s, and of these, four had coinheritance with - - SEA deletion Patients with the heterozygous α2 codon 30 (-GAG) ( HBA2 : c.91_93delGAG) mutation had significantly lower levels of MCV and MCH than healthy individuals ( p < 0.01), and coinheritance with - - SEA deletion aggravated the α-thal phenotype , associated with severe Hb H disease . Moreover, a significant difference in the clinical severity was found in the Hb H disease patients with the same genotype.Conclusions: This finding is of great significance for clinicians to provide accurate genetic counseling , particularly prenatal diagnosis and establish a rigorous diagnostic procedure .

A new strategy for prenatal diagnosis in a sporadic haemophilia B family

Haemophilia ◽  
2001 ◽  
Vol 7 (4) ◽  
pp. 416-418 ◽  
Author(s):  
M. Acquila ◽  
F. Bottini ◽  
A. Valetto ◽  
D. Caprino ◽  
P. G. Mori ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Haemophilia B ◽  
New Strategy

185: Does Prenatal Diagnosis Influence the Morbidity Associated with Left in Non or Poorly-Functioning Renal Moiety After Endoscopoic Puncture of Ureterocele?

2004 ◽  
Vol 171 (4S) ◽  
pp. 49-49
Author(s):  
Boris Chertin ◽  
Ron Rabinowitz ◽  
Avner Polak ◽  
Irit Hadas-Halpren ◽  
Amicur Farkas
Keyword(s):  
Prenatal Diagnosis

Purpura Fulminans in a Patient Homozygous for a Mutation in the Protein C Gene - Prenatal Diagnosis in a Subsequent Pregnancy

1996 ◽  
Vol 75 (03) ◽  
pp. 525-526 ◽  
Author(s):  
M C Alessi ◽  
M F Aillaud ◽  
O Paut ◽  
B Roquelaure ◽  
M Alhenc-Gelas ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Protein C ◽  
Purpura Fulminans ◽  
Subsequent Pregnancy

Prenatal Diagnosis of Compound Heterozygous Deficiency of Protein C by Direct Detection of the Mutation Sites

1996 ◽  
Vol 76 (02) ◽  
pp. 277-278 ◽  
Author(s):  
Masaru Ido ◽  
Tatsuya Hayashi ◽  
Junji Nishioka ◽  
Masazumi Itoh ◽  
Hiroyuki Minoura ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Protein C ◽  
Direct Detection ◽  
Compound Heterozygous ◽  
Heterozygous Deficiency
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