First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family

Hemoglobin ◽  
2019 ◽  
Vol 43 (1) ◽  
pp. 66-68
Author(s):  
Hossam Murad ◽  
Faten Moassas
Keyword(s):  
Compound Heterozygosity ◽  
First Report

Compound Heterozygosity for Hb E and Hb Lepore-Hollandia in India; First Report and Potential Diagnostic Pitfalls

Hemoglobin ◽  
2005 ◽  
Vol 29 (3) ◽  
pp. 221-224 ◽  
Author(s):  
Eunice Sindhuvi Edison ◽  
Ramachandran V. Shaji ◽  
Alok Srivastava ◽  
Mammen Chandy
Keyword(s):  
Compound Heterozygosity ◽  
First Report ◽  
Hb E ◽  
Diagnostic Pitfalls

scholarly journals β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39C→T/−28A→C

2009 ◽  
Vol 2009 ◽  
pp. 1-3 ◽  
Author(s):  
Soledad Gamarra ◽  
Guillermo Garcia-Effron ◽  
Carmen Monteserin ◽  
Isabel Lopez-Villar ◽  
Florinda Gilsanz ◽  
...  
Keyword(s):  
Male Patient ◽  
Globin Gene ◽  
Gene Mutations ◽  
Gene Promoter ◽  
Tata Box ◽  
Spanish Population ◽  
Compound Heterozygosity ◽  
Thalassaemia Major ◽  
Spanish Patient ◽  
First Report

A Spanish male patient withβ-thalassaemia major was studied. Compound heterozygosity was found for one of the most commonβ-globin gene mutations in the Spanish population (codon 39C→T) and for a mutation in the TATA box element of theβ-globin gene promoter (−28 A→Cmutation). To our knowledge this is the first report of a CD39C→Tand−28 A→Cchange association and the first report of the−28 A→Csubstitution in a Spanish patient.

First Report of Compound Heterozygosity for Hb S (HBB: c.20A>T) and Hb Haringey (HBB: c.131A>G)

Hemoglobin ◽  
2021 ◽  
pp. 1-4
Author(s):  
Ugochi O. Ogu ◽  
Morayma Reyes Gil ◽  
Seda S. Tolu ◽  
Seetharama A. Acharya ◽  
Caterina P. Minniti
Keyword(s):  
Compound Heterozygosity ◽  
First Report ◽  
Hb S

A fossil Aspergillus from Eocene Dominican amber

1988 ◽  
Vol 62 (01) ◽  
pp. 141-143 ◽  
Author(s):  
Gerard M. Thomas ◽  
George O. Poinar
Keyword(s):  
Dominican Republic ◽  
Fossil Species ◽  
First Report ◽  
Dominican Amber ◽  
Eocene Amber

A sporulating Aspergillus is described from a piece of Eocene amber originating from the Dominican Republic. The Aspergillus most closely resembles a form of the white spored phase of Aspergillus janus Raper and Thom. This is the first report of a fossil species of Aspergillus.

1392: First Report of a New Transurethral Detaching Prostatectomy of the Prostate (TUDP)

2005 ◽  
Vol 173 (4S) ◽  
pp. 377-378
Author(s):  
Yasunori Hiraoka ◽  
Kazuhiko Yamada ◽  
Yuji Shimizu ◽  
Hiroyuki Abe
Keyword(s):  
First Report
Sign in / Sign up

Export Citation Format

Share Document