نتایج جستجو برای: hb e mutation

تعداد نتایج: 1303862  

2003
SUPAN FUCHAROEN KANOKWAN SANCHAISURIYA

Background and Objectives. This study aimed to describe hematologic and molecular characterization of the interaction of hemoglobin (Hb) E and several forms of α-thalassemia causing complex thalassemia syndromes in two Cambodian families as well as to establish a rapid polymerase chain reaction (PCR) assay for simultaneous detection of Hb Constant Spring (CS) and Hb Pakse’ (PS). Design and Meth...

2015
XIAOJUN FU PEIYUAN CUI FANGFANG CHEN JIANZHONG XU LI GONG LEI JIANG DAKUN ZHANG YONGTAO XIAO

Hepatoblastoma (HB) is the most common malignant hepatic tumor in children and complete surgical resection offers the highest possibility for cure in this disease. Tumor metastasis is the principle obstacle to the development of efficient treatments for patients with HB. The present study aimed to measure the expression levels of thymosin β4 (Tβ4) in liver samples from patients with HB and to i...

Journal: :Thalassemia Reports 2022

This is a report of novel variant the α1-globin gene—(α1) α51 Gly > Cys (CE9), c.154 GGC TGC, named Hb Mazandaran, which was observed in an Iranian family. gives rise to previously undescribed haemoglobin that undetectable by capillary electrophoresis (CE). detected two cases combination with β-globin mutation, and it does not seem be associated severe haematological abnormalities carriers.

Journal: :Blood 1981
R M Baine J M Benson

To be useful in the study of mechanisms controlling hemoglobin synthesis. erythroid bursts cloned from peripheral blood burst-forming units (BFU-E) must be shown to perform functions characteristic of bone marrow erythroid cells. To this end. peripheral blood BFU-E were cloned from two carriers of Hb Lepore. This globin chain has the N-terminal sequence of the #{246} chain and C-terminal sequen...

Journal: :The Southeast Asian journal of tropical medicine and public health 2006
Peerapon Wong Piriya Thanormrat Suchila Srithipayawan Nangnoy Jermnim Sukumarn Niyomthom Nungruethai Nimnuch Torpong Sanguansermsri

Thalassemia screening in pregnant women and their spouses was performed at Buddhachinaraj Provincial Hospital and 8 community hospitals in Phitsanulok; lower northern Thailand. The prevalence of thalassemic carrier state was determined of 1,198 couples. Of these, 4.8% had heterozygous alpha thalassemia-1, 1.6% had heterozygous beta thalassemia, 12.4% had heterozygous hemoglobin (Hb) E, 2.7% had...

Journal: :acta medica iranica 0
a. massoud

cell-mediated immune (cmi) s t a t us and sub- popul at i ons o f pe r ipheral b l ood lymphocytes were investigated in one hundre d volunt a ry blood donors who were car r ier s of ag • he s a signi f i c ant decr e ase of t otal t-cells observed in hb ag carri e rs as compared t o normal controls. the percens t age o f active t-cells a nd b-lymphocytes did not d i f f e r signi f icant ly bet...

2012
Marcos José Cataldo Ana Carolina Bonini-Domingos Claudia Regina Bonini-Domingos

Hemoglobin (Hb) Porto Alegre is a beta globin chain mutant [beta 9 (A6) Ser>Cys] that was initially described in a Caucasian Brazilian family in 1963(1). It was subsequently identified in other families in Brazil and in other places such as Cuba and the Canary Islands. The origin of the mutation was reported as Portuguese by the co-inheritance of an intragenic polymorphism characteristic of the...

2015
Daehyun Chu Young-Uk Cho Seongsoo Jang Eul-Ju Seo Chan-Jeoung Park

Dear Editor Some cases of polycythemia vera (PV) may mimic essential thrombocythemia (ET) owing to prominent thrombocytosis [1]. A recently proposed revision of the WHO diagnostic criteria for BCR-ABL1-negative myeloproliferative neoplasms (MPNs) has highlighted the diagnostic pitfalls of these cases and reintroduced the clinical entity of “masked” PV, which has been identified in patients with...

Journal: :Blood 1991
G L Kropp S Fucharoen S H Embury

Hemoglobin (Hb) Constant Spring is an alpha-thalassemic hemoglobinopathy that is a major cause of severe alpha-thalassemia in Southeast Asians. The difficulty of diagnosing Hb Constant Spring using standard electrophoretic methods has led to interest in DNA-dependent diagnostic methods. The methods developed have had to contend with the high degree of homology of the alpha 2-globin gene (the si...

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