First Report of the 3'-Untranslated Region +1506 (A>C) [NM_000518.5: c.*32A>C] mutation on the β-Globin Gene in the Indian Population

Hemoglobin ◽  
2021 ◽  
pp. 1-4
Author(s):  
Aditi Sen ◽  
Venu Seenappa ◽  
Prantar Chakrabarti ◽  
Tuphan Kanti Dolai
Keyword(s):  
Untranslated Region ◽  
Indian Population ◽  
Globin Gene ◽  
First Report

scholarly journals A first case of hemoglobin Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] associated with [IVS-I-1 (G>A); HBB:c.92+1G>A] mutation found in a Syrian betathalassemia patient

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Ahmad Shoujaa ◽  
Yasser Mukhalalaty ◽  
Hossam Murad ◽  
Faizeh Al-Quobaili
Keyword(s):  
Molecular Analysis ◽  
Clinical Case ◽  
Globin Gene ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Blood Transfusions ◽  
Beta Globin ◽  
First Report ◽  
Beta Thalassemia Major ◽  
First Case

Beta thalassemia (β-thal) is one of the most common worldwide inherited hemoglobinopathies. Proper identification and diagnosis of hemoglobin (Hb) variants provide a major challenge. In this report, we describe a 1-year-old boy, presented with the diagnosis of β-TM (beta thalassemia major), has received regular blood transfusions. The molecular analysis revealed the presence of rare Hb Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] variant associated with β0 [IVS-I-1 (G>A); AG^GTTGGT- >AGATTGGT beta0] (HBB:c.92+1G>A) Mutation in beta-globin (β-globin) gene. To our knowledge, this is the first report of Hb Castilla [Beta 32(B14) Leu>Arg] in ExonII of β-globin gene which were found in Syrian male proband. However, we should investigate abnormal hemoglobins in patients with beta thalassemia to determine whether they have involvement with β-thalassemia mutations in the clinical case of the patients or not.

First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations

2014 ◽  
Vol 37 (2) ◽  
pp. 238-243 ◽  
Author(s):  
S. Alkindi ◽  
S. AlZadjali ◽  
S. Daar ◽  
R. Ambusaidi ◽  
D. Gravell ◽  
...  
Keyword(s):  
Globin Gene ◽  
Gene Mutations ◽  
Novel Mutations ◽  
First Report

Sialidosis type I: First report in the Indian population

1991 ◽  
Vol 93 (2) ◽  
pp. 115-118 ◽  
Author(s):  
A.I. Bhigjee ◽  
A.R. Seebaran ◽  
E.M. Petersen ◽  
P.L.A. Bill
Keyword(s):  
Indian Population ◽  
Type I ◽  
First Report

scholarly journals Identification of Two Novel Regulatory Elements within the 5′-Untranslated Region of the HumanSγ-Globin Gene

1995 ◽  
Vol 270 (21) ◽  
pp. 12892-12898 ◽  
Author(s):  
Persis J. Amrolia ◽  
John M. Cunningham ◽  
Paul Ney ◽  
Arthur W. Nienhuis ◽  
Stephen M. Jane
Keyword(s):  
Untranslated Region ◽  
Globin Gene ◽  
Regulatory Elements

Characterization of Clinical and Laboratory Profiles of the Deletionalα2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA– –) in an Indian Population

Hemoglobin ◽  
2015 ◽  
Vol 39 (6) ◽  
pp. 415-418 ◽  
Author(s):  
Prashant Deshpande ◽  
Neelagandan Kamalanathan ◽  
Eswari Sampath ◽  
Biju George ◽  
Ramachandran V. Shaji ◽  
...  
Keyword(s):  
Indian Population ◽  
Signal Sequence ◽  
Globin Gene ◽  
Polyadenylation Signal ◽  
Polyadenylation Signal Sequence

A novel β-thalassaemia mutation in the 5’untranslated region of the β-globin gene

1994 ◽  
Vol 88 (2) ◽  
pp. 307-310 ◽  
Author(s):  
Aglaia Athanassiadou ◽  
Adamandia Papachatzopoulou ◽  
Nicholas Zoumbos ◽  
George M. Maniatis ◽  
Richard Gibbs
Keyword(s):  
Untranslated Region ◽  
Globin Gene

scholarly journals First Report of Genotype E of Hepatitis B Virus in an Indian Population

Intervirology ◽  
2009 ◽  
Vol 52 (5) ◽  
pp. 235-238 ◽  
Author(s):  
Jasbir Singh ◽  
Caroline Dickens ◽  
Vikas Pahal ◽  
Rajesh Kumar ◽  
Rajender Chaudhary ◽  
...  
Keyword(s):  
Hepatitis B Virus ◽  
Hepatitis B ◽  
Indian Population ◽  
First Report ◽  
B Virus ◽  
Genotype E

scholarly journals Identification of a Novel Mutation in the β-Globin Gene 3′ Untranslated Region [+1,506 (A>C)] in a Japanese Male with a Heterozygous β-Thalassemia Phenotype

Hemoglobin ◽  
2012 ◽  
Vol 36 (2) ◽  
pp. 170-176 ◽  
Author(s):  
Minako Hino ◽  
Yasuhiro Yamashiro ◽  
Yukio Hattori ◽  
Hitomi Ito ◽  
Takenori Nitta ◽  
...  
Keyword(s):  
Untranslated Region ◽  
Novel Mutation ◽  
Globin Gene ◽  
Japanese Male
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