نتایج جستجو برای: alpha thalassaemia

تعداد نتایج: 203579  

2017
Peifeng Ke Jiawei Liu Yan Chao Xiaobin Wu Yujuan Xiong Li Lin Zemin Wan Xinzhong Wu Jianhua Xu Junhua Zhuang Xianzhang Huang

INTRODUCTION Thalassemia could interfere with some assays for haemoglobin A1c (HbA1c) measurement, therefore, it is useful to be able to screen for thalassemia while measuring HbA1c. We used Capillarys 2 Flex Piercing (Capillarys 2FP) HbA1c programme to simultaneously measure HbA1c and screen for thalassemia. MATERIALS AND METHODS Samples from 498 normal controls and 175 thalassemia patients ...

Journal: :Malaysian Journal of Medicine and Health Sciences 2022

Introduction: In Malaysia, the commonest non-deletional alpha (α) thalassaemia is Haemoglobin Constant Spring (Hb CS) which occurs due to a mutation at termination codon of α2 globin gene (TAA>CAA). Presence an abnormal peak Zone 2 on CE or presence small c-window HPLC can be suggestive Hb CS. The objective this study was determine proportion form four students diagnosed with CS and haematol...

Journal: :Journal of clinical pathology 1983
P Yenchitsomanus P Wasi

Erythrocyte superoxide dismutase activities were measured in 45 subjects, 15 each of beta 0-thalassaemia/haemoglobin (Hb) E disease, Hb H disease, and normal. The erythrocyte superoxide dismutase activities were significantly higher in the patients with beta 0-thalassaemia/Hb E and Hb H diseases than in the normal subjects. The increase of erythrocyte superoxide dismutase activities is most lik...

Journal: :The British journal of ophthalmology 1979
T K Daneshmend

A case is reported of a patient with known haemoglobin H disease who was found to have angioid streaks and retinal detachment. Angioid streaks have not previously been reported in cases of alpha-thalassaemia, and the question whether this is a chance association or otherwise is discussed.

Journal: :International Journal of Human Genetics 2008

2013

ATR-X syndrome is an X-linked mental retardation syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth. Here we report two twins with this syndrome.

Journal: :British journal of haematology 2007
Kenneth I Ataga Maria D Cappellini Eliezer A Rachmilewitz

Thalassaemia and sickle cell disease (SCD) represent the most common forms of hereditary haemolytic anaemia and result from a partial or complete lack of synthesis of one of the major alpha- or beta-globin chains of haemoglobin A or from a single amino acid mutation (beta(6Glu-->Val)) of the beta-globin chain respectively. Although they have different pathophysiologies, patients with these cond...

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