First reported case of compound heterozygosity for HbA2-Yialousa (HBD: c.82 G>C) and HbA2-Wrens (HBD: c.295 G>A) in Oman

We report the presence of two different δ-globin gene mutations causing δ + -thalassemia in association with homozygous (−α 3.7 /−α 3.7 ) genotype for the first time in an Omani child with a low hemoglobin A 2 (HbA 2 ) of 0.8 %. Direct nucleotide sequencing revealed compound heterozygote mutations i...

Full description

Saved in:
Bibliographic Details
Published in:International journal of hematology 2013-08, Vol.98 (2), p.240-242
Main Authors: Al Zadjali, Shoaib, Bashir, Wafa, Gravell, David, Al Riyami, Arwa Z., Wali, Yasser, Daar, Shahina
Format: Article
Language:English
Subjects:
Anemias. Hemoglobinopathies
Biological and medical sciences
Case Report
Child, Preschool
delta-Thalassemia - genetics
Diseases of red blood cells
DNA Mutational Analysis
Hematologic and hematopoietic diseases
Hematology
Hemoglobins, Abnormal - genetics
Heterozygote
Humans
Male
Medical sciences
Medicine
Medicine & Public Health
Oman
Oncology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We report the presence of two different δ-globin gene mutations causing δ + -thalassemia in association with homozygous (−α 3.7 /−α 3.7 ) genotype for the first time in an Omani child with a low hemoglobin A 2 (HbA 2 ) of 0.8 %. Direct nucleotide sequencing revealed compound heterozygote mutations in the patient’s δ-globin genes: HbA 2 -Yialousa (HBD: c.82G>C) and HbA 2 -Wrens (HBD: c.295G>A). In Oman, where α and β-thalassemia and HbS are prevalent, an awareness of the presence of different δ-globin gene mutations is important as complex interactions between these hemoglobinopathies can lead to the misdiagnosis of β-thalassemia carriers.
ISSN:0925-5710
1865-3774
DOI:10.1007/s12185-013-1388-7