Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review
SA Suhaimi, IN Zulkipli, H Ghani… - Frontiers in …, 2022 - frontiersin.org
Thalassemias are a group of inherited blood disorders that affects 5–7% of the world
population. Comprehensive screening strategies are essential for the management and …
population. Comprehensive screening strategies are essential for the management and …
Borderline HbA2 levels: dilemma in diagnosis of beta-thalassemia carriers
S Colaco, A Nadkarni - Mutation Research/Reviews in Mutation Research, 2021 - Elsevier
There is inconsistency in the exact definition of diagnostic levels of HbA 2 for β thalassemia
trait. While many laboratories consider HbA 2≥ 4.0% diagnostic, still others consider HbA …
trait. While many laboratories consider HbA 2≥ 4.0% diagnostic, still others consider HbA …
Significance of borderline HbA2 levels in β thalassemia carrier screening
S Colaco, R Colah, A Nadkarni - Scientific Reports, 2022 - nature.com
Increased HbA2 levels are the characteristic feature of β-thalassemia carriers. A subset of
carriers however do not show HbA2 levels in the typical carrier range (≥ 4.0%) but show …
carriers however do not show HbA2 levels in the typical carrier range (≥ 4.0%) but show …
[PDF][PDF] Molecular detection of alpha thalassemia: a review of prevalent techniques
D Vijian, WSW Ab Rahman… - Medeniyet medical …, 2021 - jag.journalagent.com
Alpha thalassemia (α-thalassemia) is an autosomal recessive disorder due to the reduction
or absence of α globin chain production. Laboratory diagnosis of α-thalassemia requires …
or absence of α globin chain production. Laboratory diagnosis of α-thalassemia requires …
Application of targeted next-generation sequencing for the investigation of thalassemia in a developing country: A single center experience
Thalassemia is identified as a prevalent disease in Malaysia, known to be one of the
developing countries. Fourteen patients with confirmed cases of thalassemia were recruited …
developing countries. Fourteen patients with confirmed cases of thalassemia were recruited …
[HTML][HTML] Unresolved laboratory issues of the heterozygous state of β-thalassemia: a literature review
S Thilakarathne, UP Jayaweera… - Haematologica, 2024 - ncbi.nlm.nih.gov
Although considered a mild clinical condition, many laboratory issues of the carrier state of β-
thalassemia remain unresolved. Accurate laboratory screening of β-thalassemia traits is …
thalassemia remain unresolved. Accurate laboratory screening of β-thalassemia traits is …
Spectrum of β-thalassemia and other hemoglobinopathies in the Saurashtra Region of Gujarat, India: analysis of a large population screening program
NA Vachhani, DJ Vekariya, RB Colah, HN Kashiyani… - …, 2022 - Taylor & Francis
Hemoglobinopathies are common genetic disorders of the hemoglobin (Hb) molecule.
Globally, 7.0% of the population are carriers of thalassemia with 300,000–400,000 affected …
Globally, 7.0% of the population are carriers of thalassemia with 300,000–400,000 affected …
Molecular Characterization of β- and α-Globin Gene Mutations in Individuals with Borderline Hb A2 Levels
S Satthakarn, S Panyasai, S Pornprasert - Hemoglobin, 2020 - Taylor & Francis
Abstract Elevated Hb A2 level (≥ 4.0%) is considered to be reliable parameter to identify β-
thalassemia (β-thal) carriers. However, some β-thal carriers have been misdiagnosed as …
thalassemia (β-thal) carriers. However, some β-thal carriers have been misdiagnosed as …
Problem of borderline hemoglobin A2 levels in an Iranian population with a high prevalence of α- and β-thalassemia carriers
K Moradi, R Alibakhshi, S Shafieenia… - Egyptian Journal of …, 2022 - Springer
Background It is difficult to classify a small fraction of α-and β-thalassemia (α-and β-thal)
carriers based on their Hb A2 levels. Here, we report the results of a molecular investigation …
carriers based on their Hb A2 levels. Here, we report the results of a molecular investigation …
Mean corpuscular volume/mean corpuscular hemoglobin values are not reliable predictors of the β-thalassemia carrier status among healthy diverse populations of …
OK Bharti, RK Sood, HR Sharma, H Kaur… - Asian Journal of …, 2020 - journals.lww.com
BACKGROUND: Himachal Pradesh is a hill state in North India in the Western Himalayas. β-
thalassemia is a genetic disorder of hemoglobin inherited in an autosomal recessive …
thalassemia is a genetic disorder of hemoglobin inherited in an autosomal recessive …