Haemoglobinopathy diagnosis

BJ Bain - 2020 - books.google.com
An updated, essential guide for the laboratory diagnosis of haemoglobin disorders This
revised and updated third edition of Haemoglobinopathy Diagnosis offers a comprehensive …

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 …

Genotype-phenotype diversity of beta-thalassemia in Malaysia: treatment options and emerging therapies

G Elizabeth, TJAM Ann - Medical Journal of Malaysia, 2010 - eprints.um.edu.my
The haemoglobinopathies and thalassemias represent the most common inherited
monogenic disorders in the world. Beta-thalassaemia major is an ongoing public health …

Prevalence and molecular characterization of common thalassemia among people of reproductive age in the border area of Guangxi-Yunnan-Guizhou province in …

GD Xu, CF Wang, JL Wang, M Lin, ZY Chang… - …, 2022 - Taylor & Francis
Objectives: Thalassemia, the most common global monogenetic disorder, is highly prevalent
in southern China. Epidemiological and molecular characterization of thalassemia is …

Hemoglobin H disease in Guangxi province, Southern China: clinical review of 357 patients

XL Yin, XH Zhang, TH Zhou, TL Zhang, RG Luo… - Acta …, 2010 - karger.com
The clinical characteristics of 357 patients with hemoglobin H (HbH) disease from the
Guangxi province of Southern China were studied. One hundred and ninety-one (53.3%) …

Differential positive selection of malaria resistance genes in three indigenous populations of Peninsular Malaysia

X Liu, Y Yunus, D Lu, F Aghakhanian, WY Saw, L Deng… - Human genetics, 2015 - Springer
The indigenous populations from Peninsular Malaysia, locally known as Orang Asli,
continue to adopt an agro-subsistence nomadic lifestyle, residing primarily within natural …

[HTML][HTML] Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population

S Shahid, M Nadeem, D Zahid, J Hassan… - Pakistan journal of …, 2017 - ncbi.nlm.nih.gov
Methods: The samples were collected in ethylenediaminetetraacetic acid (EDTA)
vacutainers. A total of 156 samples were analyzed for alpha thalassemia mutations. This …

Molecular study and genotype/phenotype correlation of β thalassemia in Malaysia

M Sivalingam, ML Looi, SZS Zakaria… - International Journal …, 2012 - Wiley Online Library
Introduction: To study the ß‐gene mutations spectrum, the genotype/phenotype correlation,
the modulatory effect of co‐inherited factors such as α‐gene mutations and of Xmn1 …

[HTML][HTML] Homozygous deletion of six olfactory receptor genes in a subset of individuals with Beta-thalassemia

J Van Ziffle, W Yang, FF Chehab - PLoS One, 2011 - journals.plos.org
Progress in the functional studies of human olfactory receptors has been largely hampered
by the lack of a reliable experimental model system. Although transgenic approaches in …

[引用][C] 广西地区79 例β-地中海贫血复合α-地中海贫血患者血液学特征分析

熊符, 娄季武, 魏小凤, 孙曼娜, 黄际卫, 商璇, 张新华… - 中华血液学杂志, 2012