نتایج جستجو برای: hb eβ0 thalassemia

تعداد نتایج: 34487  

Journal: :Blood 2014
Sarah H Atkinson Sophie M Uyoga Emily Nyatichi Alex W Macharia Gideon Nyutu Carolyne Ndila Dominic P Kwiatkowski Kirk A Rockett Thomas N Williams

Haptoglobin (Hp) scavenges free hemoglobin following malaria-induced hemolysis. Few studies have investigated the relationship between the common Hp variants and the risk of severe malaria, and their results are inconclusive. We conducted a case-control study of 996 children with severe Plasmodium falciparum malaria and 1220 community controls and genotyped for Hp, hemoglobin (Hb) S heterozygot...

Journal: :The Southeast Asian journal of tropical medicine and public health 2000
A Jaovisidha S Ajjimarkorn P Panburana O Somboonsub Y Herabutya R Rungsiprakarn

Eight thousand seven hundred and thirty-six pregnant women were screened for thalassemia and hemoglobinopathies by mean corpuscular volume less than 80 femtolitres (fl). Three thousand six hundred and seventy women (42%) were MCV less than 80 fl. In this group there were 2,390 women (70%) who had positive Hb typing by high performance liquid chromatography (HPLC) such as beta-thalassemia major,...

Journal: :Journal of obstetrics and gynaecology of India 2013
Dipal S Bhukhanvala Smita M Sorathiya Pratibha Sawant Roshan Colah Kanjaksha Ghosh Snehalata C Gupte

PURPOSE Our aim was to identify couples at risk of having a homozygous or compound heterozygous child with a severe hemoglobinopathy by antenatal screening and prenatal diagnosis in Surat, South Gujarat. METHOD Pregnant women were screened for hemoglobinopathies by means of red cell indices, the solubility test, cellulose acetate electrophoresis tests, and confirmation by HPLC. Husbands of th...

2002
J. E. R. A. J. J. L. S. L.

A considerable number of deletions of variable size and position that involve the B-globin gene complex on chromosome 1 1 are associated with the clinical entities of hereditary persistence of fetal hemoglobin (HPFH) and a@ thalassemia. Specific deletions appear to be associated with consistent phenotypes and some are known to be recurrent. To facilitate the molecular diagnosis of uncharacte...

2014
Yu-Hua Chao Kang-Hsi Wu Han-Ping Wu Su-Ching Liu Ching-Tien Peng Maw-Sheng Lee

Thalassemia is highly prevalent in Taiwan, but limited data are available about the association between genotypes and clinical manifestations in Taiwanese patients with Hb H disease. Here, we studied α-globin gene abnormalities and clinical features in Taiwanese patients with Hb H disease. Of the 90 patients, sixty-four (71.1%) were deletional and twenty-six (28.9%) were nondeletional Hb H dise...

2005
Mario Baldini Katsuhiro Fukutake Peter C. Reizenstein

S 489 phy. From the Dept. of Medicine, University Hospitals, Cleveland, Ohio. J. Clin. Invest., 47:1483-1495, 1968. Suspensions of erythrocytes from patients with Hb CC disease showed an increased viscosity and decreased filterability suggesting a less deformable cell. Hemolysates prepared from Hb CC erythrocytes had an increased viscosity compared with hemolysates of normal cells, suggesting t...

2002
J. E. R. A. J. J. L. S. L.

A considerable number of deletions of variable size and position that involve the B-globin gene complex on chromosome 1 1 are associated with the clinical entities of hereditary persistence of fetal hemoglobin (HPFH) and a@ thalassemia. Specific deletions appear to be associated with consistent phenotypes and some are known to be recurrent. To facilitate the molecular diagnosis of uncharacte...

2007
R. S. Balgir

BACKGROUND The β-thalassemia syndrome is a genetically inherited commonly encountered hematological disorder in the state of Orissa. It causes high degree of morbidity, mortality and fetal wastage in the poor vulnerable people. AIMS AND OBJECTIVES There is an equal probability (50% chance) in every singleton pregnancy that a carrier parent of β-thalassemia major would either bear normal or ca...

علی بخشی, رضا , زربخش, بهناز , زینلی, سیروس , کریمی پور, مرتضی , کیانی شیرازی, رویا ,

Background and Aim:-thalassemia is the most common inherited disorder of hemoglobin (Hb) synthesis in the world. Alpha thalassemia most frequently results from the loss of one (- ) or both (- -) of the duplicated  genes () on chromosome 16. Carriers of deletional forms of -thalassemia (-/- /-, or --/) are clinically normal but have a mild hypochromic, microcytic anemia. C...

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