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

Compound heterozygosity for Hb Korle-Bu (β 73 ; Asp-Asn) and Hb E (β 26 ; Glu-Lys) with a 3.7-kb deletional α-thalassemia in Thai patients

2002 ◽  
Vol 81 (7) ◽  
pp. 389-393 ◽  
Author(s):  
Changtrakun Y. ◽  
Fucharoen S. ◽  
Ayukarn K. ◽  
Siriratmanawong N. ◽  
Fucharoen G. ◽  
...  
Keyword(s):  
Compound Heterozygosity ◽  
Hb E

HB Hope [B136(H14)GLY→ASP] and HB E [D26 (B8) GLU→LYS] : Compound Heterozygosity in a Thai Mien Family

Hemoglobin ◽  
1992 ◽  
Vol 16 (1-2) ◽  
pp. 81-84 ◽  
Author(s):  
D. M. Pillers ◽  
M. Jones ◽  
C. Head ◽  
R. T. Jones
Keyword(s):  
Compound Heterozygosity ◽  
Hb E

scholarly journals Haemoglobin D Trait-An Uncommon Haemoglobinopathy in Chattogram: A Case Report

2021 ◽  
Vol 20 (1) ◽  
pp. 81-83
Author(s):  
Razia Sultana ◽  
Tani Gosh
Keyword(s):  
Laboratory Medicine ◽  
Blood Film ◽  
Subsequent Pregnancy ◽  
Heterozygous State ◽  
Compound Heterozygosity ◽  
Medicine Department ◽  
Microcytic Hypochromic Anaemia ◽  
Hypochromic Anaemia ◽  
Hb E ◽  
Peripheral Blood Film

This case presents haemoglobin D Trait (Hb-D) which is a rare disease in Bangladesh. It is a heterozygous state for haemoglobin D who came to Laboratory Medicine Department of Chattogram Maa Shishu-O-General Hospital (CMSOGH) for heamoglobin electrophoresis. Our patient was 9 years old girl from Noakhali, Bangladesh. She was clinically silent with no splenomegaly. Her peripheral blood film was microcytic hypochromic anaemia and Capillary Electrophoresis (CE) of Hb revealed Hb D Trait. On family screening her father was Hb E trait, mother was Hb D trait and younger sister turned out normal Hb study. Compound heterozygosity for haemoglobin D and haemoglobin E may be present in subsequent pregnancy of her mother. Chatt Maa Shi Hosp Med Coll J; Vol.20 (1); January 2021; Page 81-83

First Report of Hb E in Italy

1974 ◽  
Vol 51 (4) ◽  
pp. 250-255 ◽  
Author(s):  
G. Ricco ◽  
E. Gallo ◽  
L. Pugliatti ◽  
P.G. Pich ◽  
U. Mazza
Keyword(s):  
First Report ◽  
Hb E

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.

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