scholarly journals Cerebral thrombosis in beta-thalassemia/hemoglobin E disease.

Stroke ◽  
1990 ◽  
Vol 21 (5) ◽  
pp. 812-816 ◽  
Author(s):  
V Wong ◽  
Y L Yu ◽  
R H Liang ◽  
W K Tso ◽  
A M Li ◽  
...  
Keyword(s):  
Beta Thalassemia ◽  
Cerebral Thrombosis ◽  
Hemoglobin E ◽  
Hemoglobin E Disease

scholarly journals DISCREPANCY BETWEEN HAEMOGLOBIN, RDW, AND MEAN CORPUSCULAR VALUES IN PATIENTS WITH BETA THALASSEMIA / HEMOGLOBIN E DISEASE AND BETA THALASSEMIA TRAIT

2019 ◽  
Vol 25 (3) ◽  
pp. 343
Author(s):  
Vinisia Setiadji ◽  
Bidasari Lubis ◽  
Adi Koesoema Aman ◽  
Herman Hariman
Keyword(s):  
Beta Thalassemia ◽  
Hemoglobin E ◽  
Thalassemia Trait ◽  
Hemoglobin E Disease

Thalassemia beta / hemoglobin E adalah suatu kondisi dengan heterozigot ganda gen pembawa thalassemia beta dan hemoglobin E. Hal ini menyebabkan kondisi dengan gambaran fenotip yang berat dibandingkan trait thalassemia beta dan trait hemoglobin E. Secara logika, nilai mean corpuscular dari thalassemia beta / hemoglobin E seharusnya memburuk. Pada penelitian ini, kami meneliti sebelas kasus dari dua keluarga dengan anggota menderita thalassemia beta / hemoglobin E.Pada keluarga-1 dua anggota dengan trait thalassemia beta memiliki nilai MCV 68 fL dan 65 fL, dan nilai MCH 21 pg dan 20 pg. Pada keluarga-2 anggota dengan trait thalassemia beta memiliki nilai MCV 60,2 fL dan MCH 18,8 pg. Anak perempuan dari kedua keluarga dengan thalassemia beta / hemoglobin E memiliki nilai mean ± SD MCV 70,8 ± 4,9 fL dan MCH 22.8 ± 2.3 pg, nilai ini signifikan lebih tinggi daripada trait thalassemia beta (p<0.05). Terdapat perbedaan yang signifikan antara nilai hemoglobin dan RDW antara thalassemia beta / hemoglobin E (p=0.001).Kami juga menemukan bahwa nilai MC dari keadaan post-transfusi signifikan lebih tinggi daripada pre-transfusi (p<0.001)Kami menyimpulkan bahwa nilai MC dari thalassemia beta / hemoglobin E secara persisten lebih tinggi daripada trait thalassemia beta. Peran transfusi darah pada pasien dengan thalassemia beta / hemoglobin E tampak memainkan peran dalam diskrepansi pada kasus ini.

Outcomes of pregnancies complicated by beta-thalassemia/hemoglobin E disease

2008 ◽  
Vol 104 (3) ◽  
pp. 203-205 ◽  
Author(s):  
Suchaya Luewan ◽  
Kasemsri Srisupundit ◽  
Theera Tongsong
Keyword(s):  
Beta Thalassemia ◽  
Hemoglobin E ◽  
Hemoglobin E Disease

scholarly journals Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center

PLoS ONE ◽  
2019 ◽  
Vol 14 (11) ◽  
pp. e0225457 ◽  
Author(s):  
Chonthicha Satirapod ◽  
Matchuporn Sukprasert ◽  
Bhakbhoom Panthan ◽  
Angkana Charoenyingwattana ◽  
Pawares Chitayanan ◽  
...  
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Retrospective Review ◽  
Clinical Utility ◽  
Beta Thalassemia ◽  
Single Center ◽  
Testing Methods ◽  
Preimplantation Genetic Testing ◽  
Hemoglobin E ◽  
Hemoglobin E Disease

scholarly journals Benefits of chronic blood transfusion in hemoglobin E/β thalassemia with pulmonary arterial hypertension

2014 ◽  
pp. 411 ◽  
Author(s):  
Nonlawan Chueamuangphan ◽  
Jayanton Patumanond ◽  
Wattana Wongtheptien ◽  
Weerasak Nawarawong ◽  
Apichard Sukornthasarn ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Blood Transfusion ◽  
Arterial Hypertension ◽  
Beta Thalassemia ◽  
Hemoglobin E ◽  
Pulmonary Arterial

scholarly journals Hemoglobin E disease and glycosylated hemoglobin

2015 ◽  
Vol 19 (5) ◽  
pp. 683 ◽  
Author(s):  
MohammadShafi Kuchay ◽  
Ambrish Mithal ◽  
Niharika Yedla
Keyword(s):  
Glycosylated Hemoglobin ◽  
Hemoglobin E ◽  
Hemoglobin E Disease

scholarly journals Molecular analysis of the beta-thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys).

1981 ◽  
Vol 68 (1) ◽  
pp. 118-126 ◽  
Author(s):  
E J Benz ◽  
B W Berman ◽  
B L Tonkonow ◽  
E Coupal ◽  
T Coates ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Beta Thalassemia ◽  
Hemoglobin E

scholarly journals Correlation of BACH1 and Hemoglobin E/Beta-Thalassemia Globin Expression

2016 ◽  
Vol 33 (1) ◽  
pp. 15-20 ◽  
Author(s):  
Tze Yan Lee ◽  
Logeswaran Muniandy ◽  
Lai Kuan Teh ◽  
Maha Abdullah ◽  
Elizabeth George ◽  
...  
Keyword(s):  
Beta Thalassemia ◽  
Hemoglobin E

scholarly journals Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency

Blood ◽  
1996 ◽  
Vol 88 (7) ◽  
pp. 2761-2767 ◽  
Author(s):  
DC Rees ◽  
J Duley ◽  
HA Simmonds ◽  
B Wonke ◽  
SL Thein ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Beta Thalassemia ◽  
Hemoglobin E ◽  
Oxidant Damage ◽  
Hb E ◽  
Hb Variant ◽  
Chain Synthesis ◽  
The Stability ◽  
Enzyme Deficient ◽  
Globin Chain Synthesis

A Bangladeshi family is described in which the genes for both hemoglobin E (Hb E) and pyrimidine 5′ nucleotidase deficiency are segregating. An individual homozygous for both these conditions has a severe hemolytic anemia, whereas family members who are homozygous for Hb E are asymptomatic and those homozygous for pyrimidine 5′ nucleotidase deficiency have the mild hemolytic anemia that is characteristic of this disorder. Globin-chain synthesis experiments have shown that the mechanism underlying the interaction between these two genotypes is a marked decrease in the stability of Hb E in pyrimidine 5′ nucleotidase-deficient red blood cells (RBCs). It has also been found that in the enzyme-deficient RBCs in which Hb E is highly unstable, free alpha-chains, though not beta E-chains, acoumulate on the membrane. In view of the increasing evidence that the hemolysis associated with pyrimidine 5′ nucleotidase deficiency results not only from an increase in the level of erythrocyte pyrimidines, but also from inhibition of the hexose monophosphate shunt activity in young erythrocytes, it is likely that the marked instability of Hb E in the enzyme-deficient cells results from oxidant damage acting on a mildly unstable Hb variant. These observations may have important implications for the better understanding of the pathophysiology of Hb E/beta-thalassemia, globally the commonest important form of thalassemia.

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