[PDF][PDF] Clinical and Haematological Parameters of Commonly Reported Non-deletional α-thalassaemia Mutations in Southeast Asia: A Review.

D Vijian, WSW Ab Rahman… - Malaysian Journal of …, 2022 - medic.upm.edu.my
Alpha (α)-thalassaemia is a common genetic disorder worldwide caused by the deletion and
rarely non-deletional mutations of the α-globin gene. Nearly 70 types of non-deletional …

[PDF][PDF] Molecular characteristic of alpha thalassaemia among patients diagnosed in UKM Medical Centre

RZ Azma, O Ainoon, A Hafiza, I Azlin… - Malays J …, 2014 - mjpath.org.my
Alpha (α) thalassaemia is the most common inherited disorder in Malaysia. The clinical
severity is dependant on the number of α genes involved. Full blood count (FBC) and …

Prevalence and molecular characterization of structural hemoglobin variants in the Dongguan region of Guangdong province, southern China

JW Lou, T Wang, YH Liu, Y He, BM Zhong, JX Liu… - …, 2014 - Taylor & Francis
The aim of the present study was to find the most prevalent structural hemoglobin (Hb)
variants in southern China and to present hematological and molecular data of abnormal …

A comparative evaluation of the analytical performances of premier resolution-high-performance liquid chromatography (PR-HPLC) with capillary zone …

S Laksap, S Suanboon, M Punyamung… - Clinical Chemistry and …, 2024 - degruyter.com
Objectives Hemoglobinopathies, including thalassemia and hemoglobin (Hb) variants, are
common hematological disorders in tropical countries. Accurate and precise separation of …

Co-inheritance of compound heterozygous Hb Constant Spring and a single --α3.7 gene deletion with heterozygous δβ thalassaemia: A diagnostic challenge.

RZ Azma, A Othman, N Azman… - Malaysian Journal …, 2012 - search.ebscohost.com
Abstract Haemoglobin Constant Spring (Hb CS) mutation and single gene deletions are
common underlying genetic abnormalities for alpha thalassaemias. Co-inheritance of …

[HTML][HTML] Uncommon Combination of Hemoglobin Jax and Hemoglobin Constant Spring Leading to Microcytic Anemia

S Srichairatanakool, C Chai-Adisaksopha… - The American Journal …, 2024 - ncbi.nlm.nih.gov
Objective: Rare disease Background: Thalassemia and hemoglobin (Hb) variants are the
most common hereditary red blood cell disorders worldwide. Alpha-thalassemia and alpha …

Hemoglobin constant spring (Hb CS) missed by HPLC in an Hb E trait pregnancy resulting in Hb H-CS disease in a Thai girl: Utility of capillary electrophoresis

S Pornprasert, S Saoboontan, T Wiengkum - Indian Journal of Hematology …, 2016 - Springer
Abstract Hemoglobin Constant Spring [Hb CS; α142, Term→ Gln (TAA> CAA IN α2)] is often
missed by routine laboratory testing, especially in subjects with co-inheritance of β …

Identification of Hb Constant Spring (HBA2: c.427T > C) by an Automated High Performance Liquid Chromatography Method

R Wisedpanichkij, S Jindadamrongwech, P Butthep - Hemoglobin, 2015 - Taylor & Francis
Laboratory investigation of hemoglobinopathies includes complete blood count (CBC),
hemoglobin (Hb) typing by high performance liquid chromatography (HPLC) and DNA …

Detection of compound heterozygous of Hb Constant Spring and Hb Q-Thailand by capillary electrophoresis and high performance liquid chromatography

S Pornprasert, M Punyamung - Indian Journal of Hematology and Blood …, 2015 - Springer
A capillary electrophoresis (CE) has proven to be superior to a high performance liquid
chromatography (HPLC) in the detection of hemoglobin Constant Spring (Hb CS). Thus the …

[PDF][PDF] α-地中海贫血的筛查进展

唐海深, 李东至 - 中国产前诊断杂志(电子版), 2012 - chinjpd.com
α 地中海贫血(简称α 地贫) 是人类最常见的单基因遗传病之一, 严重危害人类健康.
由于静止型和轻型α 地贫可无临床症状, 但按照孟德尔遗传规律, 可能孕育重型地贫的胎儿 …