Hemoglobin Kirklareli [Α2 59(E7) His>Leu; HBA2:c.176A>T] in a Brazilian child with severe dyspnea and low O2 saturation
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DOI: 10.1007/s00277-019-03839-z
Abstract: Dear Editor, Hb Kirklareli was first described—and has to date only been reported—by Bissé et al. in 2017 [1] in a 23-year-old Turkish woman from the city of Kirklareli who presented with anemia associated with… read more here.
Keywords: child; hemoglobin kirklareli; saturation; kirklareli leu ... See more keywords
A Comprehensive Molecular Investigation of α-Thalassemia in an Iranian Cohort from Different Provinces of North Iran
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DOI: 10.1080/03630269.2017.1299753
Abstract: Abstract α-Thalassemia (α-thal) is the most common monogenic disease that is caused by the absence or reduced expression of α-globin genes. The aim of this study was to investigate common α-globin mutations and their associated… read more here.
Keywords: molecular investigation; comprehensive molecular; thalassemia; deletion ... See more keywords
Hb H Disease Caused by Multiple Mutations in the Polyadenylation Signal Site and − −SEA/αα
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DOI: 10.1080/03630269.2017.1366917
Abstract: Abstract Thalassemia is the most common monogenic disease, with the highest incidence in Guangxi Zhuang Autonomous Region, People’s Republic of China (PRC). The blood test result was not consistent with α-globin gene testing in one… read more here.
Keywords: disease caused; hba2 hba2; multiple mutations; signal site ... See more keywords
Novel α-Globin Splice Site Mutation (HBA2: c.96-5C>A) in Combination with Three-Gene Deletion Hb H Disease
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DOI: 10.1080/03630269.2018.1487307
Abstract: Abstract The choice of acceptor splice site during exon-exon splicing by the spliceosome is determined by a variety of factors. We report here a family with a novel acceptor splice site variant within intron 1… read more here.
Keywords: splice site; gene; hba2; disease ... See more keywords
A Unique Interaction of IVS-I-1 (G>A) (HBA2: c.95+1G>A) with Hb Adana (HBA2: c.179G>A) Presenting as Transfusion-Dependent α-Thalassemia
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DOI: 10.1080/03630269.2018.1528985
Abstract: Abstract Nondeletional α-globin mutations are known to cause more serious clinical effects than deletional ones. A rare IVS-I-1 (G>A) (HBA2: c.95+1G>A) donor splice site mutation interferes with normal splicing of pre mRNA and results in… read more here.
Keywords: ivs hba2; adana hba2; hba2 179g; unique interaction ... See more keywords
Effect of megaloblastic anemia on hemoglobin A2 and diagnosis of β-thalassemia trait
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DOI: 10.4103/ijpm.ijpm_233_21
Abstract: Context: β-thalassemia trait is usually diagnosed by raised hemoglobin A2 (HbA2). The presence of megaloblastic anemia can cause an increase in HbA2 and create a diagnostic dilemma. Here, we have analyzed the effect of vitamin… read more here.
Keywords: megaloblastic anemia; thalassemia trait; hba2;